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Ramirez A, Vyzas CA, Zhao H, Eng K, Degenhardt K, Astrof S. Buffering Mechanism in Aortic Arch Artery Formation and Congenital Heart Disease. Circ Res 2024; 134:e112-e132. [PMID: 38618720 PMCID: PMC11081845 DOI: 10.1161/circresaha.123.322767] [Citation(s) in RCA: 2] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/08/2023] [Accepted: 03/27/2024] [Indexed: 04/16/2024]
Abstract
BACKGROUND The resiliency of embryonic development to genetic and environmental perturbations has been long appreciated; however, little is known about the mechanisms underlying the robustness of developmental processes. Aberrations resulting in neonatal lethality are exemplified by congenital heart disease arising from defective morphogenesis of pharyngeal arch arteries (PAAs) and their derivatives. METHODS Mouse genetics, lineage tracing, confocal microscopy, and quantitative image analyses were used to investigate mechanisms of PAA formation and repair. RESULTS The second heart field (SHF) gives rise to the PAA endothelium. Here, we show that the number of SHF-derived endothelial cells (ECs) is regulated by VEGFR2 (vascular endothelial growth factor receptor 2) and Tbx1. Remarkably, when the SHF-derived EC number is decreased, PAA development can be rescued by the compensatory endothelium. Blocking such compensatory response leads to embryonic demise. To determine the source of compensating ECs and mechanisms regulating their recruitment, we investigated 3-dimensional EC connectivity, EC fate, and gene expression. Our studies demonstrate that the expression of VEGFR2 by the SHF is required for the differentiation of SHF-derived cells into PAA ECs. The deletion of 1 VEGFR2 allele (VEGFR2SHF-HET) reduces SHF contribution to the PAA endothelium, while the deletion of both alleles (VEGFR2SHF-KO) abolishes it. The decrease in SHF-derived ECs in VEGFR2SHF-HET and VEGFR2SHF-KO embryos is complemented by the recruitment of ECs from the nearby veins. Compensatory ECs contribute to PAA derivatives, giving rise to the endothelium of the aortic arch and the ductus in VEGFR2SHF-KO mutants. Blocking the compensatory response in VEGFR2SHF-KO mutants results in embryonic lethality shortly after mid-gestation. The compensatory ECs are absent in Tbx1+/- embryos, a model for 22q11 deletion syndrome, leading to unpredictable arch artery morphogenesis and congenital heart disease. Tbx1 regulates the recruitment of the compensatory endothelium in an SHF-non-cell-autonomous manner. CONCLUSIONS Our studies uncover a novel buffering mechanism underlying the resiliency of PAA development and remodeling.
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Affiliation(s)
- AnnJosette Ramirez
- Department of Cell Biology and Molecular Medicine, New Jersey Medical School, Rutgers Biomedical and Health Sciences, Newark, NJ, 07103
- Multidisciplinary Ph.D. Program in Biomedical Sciences: Cell Biology, Neuroscience and Physiology Track, New Jersey Medical School, Rutgers Biomedical and Health Sciences, Newark, NJ, 07103
| | - Christina A. Vyzas
- Department of Cell Biology and Molecular Medicine, New Jersey Medical School, Rutgers Biomedical and Health Sciences, Newark, NJ, 07103
- Multidisciplinary Ph.D. Program in Biomedical Sciences: Cell Biology, Neuroscience and Physiology Track, New Jersey Medical School, Rutgers Biomedical and Health Sciences, Newark, NJ, 07103
| | - Huaning Zhao
- Department of Cell Biology and Molecular Medicine, New Jersey Medical School, Rutgers Biomedical and Health Sciences, Newark, NJ, 07103
| | - Kevin Eng
- Department of Statistics, Rutgers University, School of Arts and Sciences, Piscataway, NJ 08854
| | - Karl Degenhardt
- Children's Hospital of Pennsylvania, University of Pennsylvania, Philadelphia, PA 19107
| | - Sophie Astrof
- Department of Cell Biology and Molecular Medicine, New Jersey Medical School, Rutgers Biomedical and Health Sciences, Newark, NJ, 07103
- Multidisciplinary Ph.D. Program in Biomedical Sciences: Cell Biology, Neuroscience and Physiology Track, New Jersey Medical School, Rutgers Biomedical and Health Sciences, Newark, NJ, 07103
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Caniza H, Cáceres JJ, Torres M, Paccanaro A. LanDis: the disease landscape explorer. Eur J Hum Genet 2024; 32:461-465. [PMID: 38200084 PMCID: PMC10999415 DOI: 10.1038/s41431-023-01511-9] [Citation(s) in RCA: 2] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/13/2023] [Revised: 11/01/2023] [Accepted: 11/23/2023] [Indexed: 01/12/2024] Open
Abstract
From a network medicine perspective, a disease is the consequence of perturbations on the interactome. These perturbations tend to appear in a specific neighbourhood on the interactome, the disease module, and modules related to phenotypically similar diseases tend to be located in close-by regions. We present LanDis, a freely available web-based interactive tool ( https://paccanarolab.org/landis ) that allows domain experts, medical doctors and the larger scientific community to graphically navigate the interactome distances between the modules of over 44 million pairs of heritable diseases. The map-like interface provides detailed comparisons between pairs of diseases together with supporting evidence. Every disease in LanDis is linked to relevant entries in OMIM and UniProt, providing a starting point for in-depth analysis and an opportunity for novel insight into the aetiology of diseases as well as differential diagnosis.
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Affiliation(s)
- Horacio Caniza
- Universidad Paraguayo Alemana de Ciencias Aplicadas, Facultad de Ciencias de la Ingeniería, San Lorenzo, Paraguay
- Department of Computer Science, Centre for Systems and Synthetic Biology, Royal Holloway University of London, Egham, UK
| | - Juan J Cáceres
- Department of Computer Science, Centre for Systems and Synthetic Biology, Royal Holloway University of London, Egham, UK
| | - Mateo Torres
- Escola de Matemática Aplicada, Fundação Getúlio Vargas, Rio de Janeiro, Brazil
| | - Alberto Paccanaro
- Department of Computer Science, Centre for Systems and Synthetic Biology, Royal Holloway University of London, Egham, UK.
- Escola de Matemática Aplicada, Fundação Getúlio Vargas, Rio de Janeiro, Brazil.
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Ramirez A, Vyzas CA, Zhao H, Eng K, Degenhardt K, Astrof S. Identification of novel buffering mechanisms in aortic arch artery development and congenital heart disease. BIORXIV : THE PREPRINT SERVER FOR BIOLOGY 2024:2023.03.02.530833. [PMID: 38370627 PMCID: PMC10871175 DOI: 10.1101/2023.03.02.530833] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 02/20/2024]
Abstract
Rationale The resiliency of embryonic development to genetic and environmental perturbations has been long appreciated; however, little is known about the mechanisms underlying the robustness of developmental processes. Aberrations resulting in neonatal lethality are exemplified by congenital heart disease (CHD) arising from defective morphogenesis of pharyngeal arch arteries (PAA) and their derivatives. Objective To uncover mechanisms underlying the robustness of PAA morphogenesis. Methods and Results The second heart field (SHF) gives rise to the PAA endothelium. Here, we show that the number of SHF-derived ECs is regulated by VEGFR2 and Tbx1 . Remarkably, when SHF-derived EC number is decreased, PAA development can be rescued by the compensatory endothelium. Blocking such compensatory response leads to embryonic demise. To determine the source of compensating ECs and mechanisms regulating their recruitment, we investigated three-dimensional EC connectivity, EC fate, and gene expression. Our studies demonstrate that the expression of VEGFR2 by the SHF is required for the differentiation of SHF-derived cells into PAA ECs. The deletion of one VEGFR2 allele (VEGFR2 SHF-HET ) reduces SHF contribution to the PAA endothelium, while the deletion of both alleles (VEGFR2 SHF-KO ) abolishes it. The decrease in SHF-derived ECs in VEGFR2 SHF-HET and VEGFR2 SHF-KO embryos is complemented by the recruitment of ECs from the nearby veins. Compensatory ECs contribute to PAA derivatives, giving rise to the endothelium of the aortic arch and the ductus in VEGFR2 SHF-KO mutants. Blocking the compensatory response in VEGFR2 SHF-KO mutants results in embryonic lethality shortly after mid-gestation. The compensatory ECs are absent in Tbx1 +/- embryos, a model for 22q11 deletion syndrome, leading to unpredictable arch artery morphogenesis and CHD. Tbx1 regulates the recruitment of the compensatory endothelium in an SHF-non-cell-autonomous manner. Conclusions Our studies uncover a novel buffering mechanism underlying the resiliency of PAA development and remodeling. Nonstandard Abbreviations and Acronyms in Alphabetical Order CHD - congenital heart disease; ECs - endothelial cells; IAA-B - interrupted aortic arch type B; PAA - pharyngeal arch arteries; RERSA - retro-esophageal right subclavian artery; SHF - second heart field; VEGFR2 - Vascular endothelial growth factor receptor 2.
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Shakerian B, Jebelli M, Mandegar MH. Type B Interrupted Aortic Arch With a Very Large Right Subclavian Artery Aneurysm in an Adult. CLINICAL MEDICINE INSIGHTS-CASE REPORTS 2022; 15:11795476221091408. [PMID: 35418793 PMCID: PMC8998364 DOI: 10.1177/11795476221091408] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/19/2021] [Accepted: 03/09/2022] [Indexed: 11/21/2022]
Abstract
Interruption of the aortic arch and right subclavian artery aneurysm is a rare congenital malformation. Survival in adults depends on the formation of collaterals to supply the descending aorta. The interruption of the aortic arch must be taken into account, particularly in patients with hypertension and weak pulses in the lower extremities. We present a case of aortic arch interruption and a right subclavian artery aneurysm in a woman who survived to adulthood.
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Affiliation(s)
- Behnam Shakerian
- Department of Cardiovascular Surgery, Tehran University of Medical Sciences, Tehran, Iran
- Department of Cardiovascular Surgery, Shahrekord University of Medical Sciences, Shahrekord, Iran
| | - Mohammad Jebelli
- Department of Cardiovascular Surgery, Tehran University of Medical Sciences, Tehran, Iran
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Jeon KH, Kim KH. Diagnosis of Interrupted Aortic Arch in an Adult during Coronary Artery Evaluation. J Cardiovasc Imaging 2021; 29:295-298. [PMID: 34080330 PMCID: PMC8318814 DOI: 10.4250/jcvi.2020.0240] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/21/2020] [Revised: 01/06/2021] [Accepted: 01/10/2021] [Indexed: 12/04/2022] Open
Affiliation(s)
- Ki Hyun Jeon
- Cardiovascular Center, Incheon Sejong Hospital, Incheon, Korea
| | - Kyung Hee Kim
- Cardiovascular Center, Incheon Sejong Hospital, Incheon, Korea.
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Dong SW, Di DD, Cheng GX. Isolated interrupted aortic arch in an adult: A case report. World J Clin Cases 2021; 9:992-998. [PMID: 33585649 PMCID: PMC7852638 DOI: 10.12998/wjcc.v9.i4.992] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/17/2020] [Revised: 12/08/2020] [Accepted: 12/16/2020] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Interrupted aortic arch (IAA) is a rare congenital heart disease defined by an interruption of the lumen and anatomical continuity between the ascending and descending major arteries. It is usually found within a few hours or days of birth. Without surgery, the chances of survival are low. If IAA patients have an effective collateral circulation established, they can survive into adulthood. However, IAA in adults is extremely rare, with few reported cases.
CASE SUMMARY A 27-year-old woman presented with a 6-year history of progressively worsening shortness of breath and chest tightness on exertion. She had cyanotic lips and clubbing of the fingers. A transthoracic echocardiogram revealed an enlarged heart and dilation of the main pulmonary artery. There was an abnormal 9 mm passage between the descending aorta and pulmonary artery. The ventricular septal outflow tract had a 14 mm defect. Doppler ultrasound suggested a patent ductus arteriosus and computed tomographic angiography showed the absence of the aortic arch. The diagnoses were ventricular septal defect, patent ductus arteriosus, and definite interruption of the aortic arch. Although surgical correction was recommended, the patient declined due to the surgical risks and was treated with medications to reduce pulmonary artery pressure and treat heart failure. Her condition has been stable for 12 mo of follow-up.
CONCLUSION Although rare, IAA should be considered in adults with refractory hypertension or unexplained congestive heart failure.
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Affiliation(s)
- Shu-Wen Dong
- Medical Imaging Department, Peking University Shenzhen Hospital, Shenzhen 518000, Guangdong Province, China
- Medical Imaging Department, Anhui Medical University, Hefei 230000, Anhui Province, China
| | - Duo-Duo Di
- Medical Imaging Department, Peking University Shenzhen Hospital, Shenzhen 518000, Guangdong Province, China
- Medical Imaging Department, Anhui Medical University, Hefei 230000, Anhui Province, China
| | - Guan-Xun Cheng
- Medical Imaging Department, Peking University Shenzhen Hospital, Shenzhen 518000, Guangdong Province, China
- Medical Imaging Department, Anhui Medical University, Hefei 230000, Anhui Province, China
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Augustine-Rauch K, Liaw JJ, Graziano M. T4-mediated rescue of aortic malformations in hypothyroid rats indicates maternal thyroid status can affect great vessel development. Toxicol Appl Pharmacol 2020; 411:115367. [PMID: 33340518 DOI: 10.1016/j.taap.2020.115367] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/01/2020] [Revised: 12/07/2020] [Accepted: 12/11/2020] [Indexed: 11/30/2022]
Abstract
Pexacerfont is a corticotrophin-releasing factor subtype 1 receptor (CRF-1) antagonist developed for potential treatment of anxiety and stress-related disorders. In male rats, pexacerfont caused hepatic enzyme induction leading to increased thyroxine (T4) clearance. When administered to pregnant rats on gestation day 6 to 15, pexacerfont at 300 mg/kg/day (30× mean AUC in humans at 100 mg/day) produced similar effects on thyroid homeostasis with serum T4 and thyroid-stimulating hormone levels that were 0.3-0.5× and 3.3-3.7× of controls, respectively. At this dose, fetuses of pexacerfont-treated dams presented findings associated with maternal hypothyroidism including growth retardation and increased skeletal alterations. Additionally, there were unexpected great vessel malformations that were mostly derived from the 4th pharyngeal arch artery in 5 (4.3%) fetuses from 3 (15.8%) litters. The etiology was unclear whether the vascular malformations were related to insufficient thyroid hormones or another mechanism. To better understand this relationship, pregnant rats were implanted with a subcutaneous L-thyroxine pellet designed to provide a sustained release of T4 throughout organogenesis in rat embryos (GD 6 to 15; the dosing period of pexacerfont). T4 supplementation produced a near euthyroid state in pexacerfont-treated dams and completely prevented the fetal vascular malformations. These results suggest maternal T4 levels during organogenesis may have a role in great vessel morphogenesis associated with patterning and/or regression of pharyngeal arch arteries. Although previous clinical reports have speculated a potential relationship between thyroid hormone homeostasis and early cardiovascular development, this is the first report to experimentally demonstrate this relationship in great vessel morphogenesis.
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Affiliation(s)
| | - Jiin-Jia Liaw
- Non Clinical Safety, Bristol Myers Squibb, New Brunswick, NJ, USA
| | - Michael Graziano
- Non Clinical Safety, Bristol Myers Squibb, New Brunswick, NJ, USA
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Bedayat A, Jalili MH, Hassani C, Chalian H, Reuhm S, Moriarty J. CT evaluation of unrepaired/incidental congenital cardiovascular diseases in adults. Diagn Interv Imaging 2020; 102:213-224. [PMID: 34102129 DOI: 10.1016/j.diii.2020.09.011] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/09/2020] [Revised: 09/29/2020] [Accepted: 09/30/2020] [Indexed: 11/25/2022]
Abstract
Congenital heart disease (CHD) affects approximately one million people in the USA with the number increasing by 5% each year. Patients are usually both diagnosed and treated in infancy, however many of them may have subclinical CHD that remains undiagnosed until late adulthood. Patients with complex CHD tend to be symptomatic and are diagnosed at a younger age than those with a single defect. CHDs can be divided into three categories, including cardiac, great vessels and coronary artery anomalies. Recent advances in computed tomography (CT) technology with faster acquisition time and improved spatial resolution allow for detailed evaluation of cardiac morphology and function. The concomitant increased utilization of CT has simultaneously led to more sensitive detection and more thorough diagnosis of CHD. Recognition of and understanding the imaging attributes specific to each anomaly is important for radiologists in order to make a correct and definite diagnosis. This article reviews the spectrum of CHDs, which persist into adulthood that may be encountered by radiologists on CT.
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Affiliation(s)
- Arash Bedayat
- Department of Radiological Sciences, Thoracic and Diagnostic Cardiovascular Imaging, David Geffen School of Medicine, 90095 Los Angeles, CA, USA.
| | - Mohammad H Jalili
- Department of Radiological Sciences, Thoracic and Diagnostic Cardiovascular Imaging, David Geffen School of Medicine, 90095 Los Angeles, CA, USA
| | - Cameron Hassani
- Department of Radiological Sciences, Thoracic and Diagnostic Cardiovascular Imaging, David Geffen School of Medicine, 90095 Los Angeles, CA, USA
| | - Hamid Chalian
- Department of Radiology, Duke University Medical Center, 27710 Durham, NC, USA
| | - Stefan Reuhm
- Department of Radiological Sciences, Thoracic and Diagnostic Cardiovascular Imaging, David Geffen School of Medicine, 90095 Los Angeles, CA, USA
| | - John Moriarty
- Department of Radiological Sciences, Thoracic and Diagnostic Cardiovascular Imaging, David Geffen School of Medicine, 90095 Los Angeles, CA, USA
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Alnasser SA, Martin AH, Preventza OA, Coselli JS, de la Cruz KI. Proximal Descending Thoracic Aortic Pseudoaneurysm in a 24-Year-Old Man after 2 Childhood Repairs of Interrupted Aortic Arch. Tex Heart Inst J 2020; 47:27-29. [PMID: 32148449 DOI: 10.14503/thij-17-6252] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/23/2022]
Abstract
Improved management of interrupted aortic arch has increased long-term survival rates. Longer life expectancies in neonates and children surgically treated for interrupted aortic arch may necessitate complex reinterventions when sequelae develop in adulthood. We report the case of a 24-year-old man who had undergone initial repair of interrupted aortic arch type B at one week and reintervention at 6 years of age. He presented with a 5.5 × 9-cm pseudoaneurysm of the proximal descending thoracic aorta. He underwent surgical replacement of his distal aortic arch and proximal descending thoracic aorta, with a bypass to his left subclavian artery. In addition to our patient's case, we discuss considerations in treating recipients of early interrupted aortic arch repairs as they live longer and undergo multiple reinterventions.
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Neonatal Death Caused by Interrupted Aortic Arch Associated With 22q11.2 Deletion Syndrome: An Autopsy Case Report. Am J Forensic Med Pathol 2018; 40:178-182. [PMID: 30562178 DOI: 10.1097/paf.0000000000000454] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/26/2022]
Abstract
A case of clinically unsuspected fatal interrupted aortic arch (IAA) is described. A 17-day-old Japanese girl unexpectedly entered respiratory arrest at home. On autopsy, the heart was hypertrophic, with no apparent connection between the ascending and descending aortas. The ascending aorta branched into common carotid and right subclavian arteries, whereas the left subclavian artery arose from the descending aorta, which was supplied by the ductus arteriosus, indicating type B IAA. In addition, ventricular septal defect, bicuspid aortic valve, patent foramen ovale, and thymic aplasia were identified. The immediate cause of death was assumed to be "ductal shock." Because of the known strong association between type B and 22q11.2 deletion, her parents received genetic counseling and requested chromosomal analysis of the child. Fluorescence in situ hybridization worked well on a frozen blood sample, identifying the suspected deletion. This case was thus diagnosed as 22q11.2 deletion syndrome exhibiting IAA and thymic defect.
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Burbano-Vera N, Zaleski KL, Latham GJ, Nasr VG. Perioperative and Anesthetic Considerations in Interrupted Aortic Arch. Semin Cardiothorac Vasc Anesth 2018; 22:270-277. [DOI: 10.1177/1089253218775954] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022]
Abstract
Interrupted aortic arch (IAA) is defined as the loss of luminal continuity between the ascending and descending aorta and is classified based on the anatomic level of interruption. IAA is associated with a number of intracardiac anomalies with the most common being patent ductus arteriosus, ventricular septal defect, and left ventricular outflow obstruction. There is also a strong association between type B interruption and 22q11 deletion syndrome. The perioperative management of the neonate with IAA begins in the intensive care unit with optimization of end-organ perfusion and function. Survival depends on the prompt initiation of prostaglandin E1 in order to maintain ductal patency, careful management of the patient’s ratio of pulmonary to systemic blood flow (Qp:Qs), and a thorough understanding of the physiologic implications of the surgical plan, type of interruption, and associated syndromes and anomalies. This review will focus on the anatomy, physiology, and perioperative anesthetic management considerations specific to the management of IAA.
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Affiliation(s)
- Nelson Burbano-Vera
- Boston Children’s Hospital, Boston, MA, USA
- Harvard Medical School, Boston, MA, USA
| | - Katherine L. Zaleski
- Boston Children’s Hospital, Boston, MA, USA
- Harvard Medical School, Boston, MA, USA
| | - Gregory J. Latham
- Seattle Children’s Hospital, Seattle, WA, USA
- University of Washington, Seattle, WA, USA
| | - Viviane G. Nasr
- Boston Children’s Hospital, Boston, MA, USA
- Harvard Medical School, Boston, MA, USA
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Salehi F, Hosseinzadeh-Maleki M, Mirza-Aghaian MR, Shabanian R. Right-Sided Interrupted Aortic Arch Repair. Ann Thorac Surg 2017; 104:2128-2129. [PMID: 29153804 DOI: 10.1016/j.athoracsur.2017.01.086] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/16/2017] [Accepted: 01/19/2017] [Indexed: 11/30/2022]
Affiliation(s)
- Forod Salehi
- Birjand Cardiovascular Diseases Research Center, Birjand University of Medical Sciences, Valiassr Hospital, Ghaffari Street, Birjand, Iran
| | - Mahmood Hosseinzadeh-Maleki
- Department of Cardiac Surgery, Cardiovascular Diseases Research Center, Birjand University of Medical Sciences, Valiassr Hospital, Ghaffari Street, Birjand, Iran.
| | - Mohamad Reza Mirza-Aghaian
- Tehran University of Medical Sciences, Department of Pediatric Cardiac Surgery, Children's Medical Center, Tehran, Iran
| | - Reza Shabanian
- Tehran University of Medical Sciences, Department of Pediatric Cardiac Surgery, Children's Medical Center, Tehran, Iran
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Tajdini M, Sardari A, Forouzannia SK, Baradaran A, Hosseini SMR, Kassaian SE. Asymptomatic Interrupted Aortic Arch, Severe Tricuspid Regurgitation, and Bicuspid Aortic Valve in a 76-Year-Old Woman. Tex Heart Inst J 2016; 43:437-440. [PMID: 27777532 DOI: 10.14503/thij-15-5320] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/23/2022]
Abstract
Interrupted aortic arch is a rare congenital abnormality with a high infancy mortality rate. The principal finding is loss of luminal continuity between the ascending and descending portions of the aorta. Because of the high mortality rate in infancy, interrupted aortic arch is very rare among adults. In this report, we describe the case of a 76-year-old woman with asymptomatic interrupted aortic arch, severe tricuspid regurgitation, and bicuspid aortic valve. To our knowledge, she is the oldest patient ever reported with this possibly unique combination of pathologic conditions. In addition to reporting her case, we review the relevant medical literature.
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15
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Varghese R, Saheed SB, Omoregbee B, Ninan B, Pavithran S, Kothandam S. Surgical Repair of Interrupted Aortic Arch and Interrupted Pulmonary Artery. Ann Thorac Surg 2015; 100:e139-40. [DOI: 10.1016/j.athoracsur.2015.07.064] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/30/2015] [Revised: 07/21/2015] [Accepted: 07/22/2015] [Indexed: 10/22/2022]
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Takahashi M, Kondo T, Morichika M, Kuse A, Nakagawa K, Sugimoto M, Asano M, Ueno Y. Unexpected neonatal death caused by interrupted aortic arch, an uncommon congenital great vessel malformation: An autopsy case report. Leg Med (Tokyo) 2015; 17:340-2. [PMID: 25922087 DOI: 10.1016/j.legalmed.2015.03.008] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/24/2014] [Revised: 03/23/2015] [Accepted: 03/23/2015] [Indexed: 10/23/2022]
Abstract
A 21-day-old Japanese male infant became inactive and then collapsed unexpectedly. On autopsy, there was no connection between the ascending and descending thoracic aorta. The site of interruption was the aortic isthmus. The heart showed hypertrophy and exhibited intracardiac malformations, including subaortic valve stenosis resulting from posterior deviation of the ventricular outlet septum and ventricular septal defect. The cause of death was diagnosed as prolonged physiological closure of the ductus arteriosus complicated by interrupted aortic arch and followed by assumed ductal shock.
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Affiliation(s)
- Motonori Takahashi
- Division of Legal Medicine, Department of Community Medicine and Social Health Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo 650-0017, Japan.
| | - Takeshi Kondo
- Division of Legal Medicine, Department of Community Medicine and Social Health Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo 650-0017, Japan
| | - Mai Morichika
- Division of Legal Medicine, Department of Community Medicine and Social Health Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo 650-0017, Japan
| | - Azumi Kuse
- Division of Legal Medicine, Department of Community Medicine and Social Health Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo 650-0017, Japan
| | - Kanako Nakagawa
- Division of Legal Medicine, Department of Community Medicine and Social Health Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo 650-0017, Japan
| | - Marie Sugimoto
- Division of Legal Medicine, Department of Community Medicine and Social Health Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo 650-0017, Japan
| | - Migiwa Asano
- Department of Legal Medicine, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime 791-0295, Japan
| | - Yasuhiro Ueno
- Division of Legal Medicine, Department of Community Medicine and Social Health Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo 650-0017, Japan
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Ozkara A, Ezelsoy M, Onat L, Sanisoglu I. Type B interrupted aorta in an adult patient. Heart Surg Forum 2014; 17:E80-1. [PMID: 24808446 DOI: 10.1532/hsf98.2013309] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/20/2022]
Abstract
INTRODUCTION Interrupted aortic arch is a rare congenital malformation characterized by a complete loss of luminal continuity between the ascending and descending aorta. It is often diagnosed during the neonatal period. CASE PRESENTATION We presented a 51-year-old male patient with interrupted aortic arch type B who was treated successfully with posterolateral thoracotomy without using cardiopulmonary bypass. CONCLUSION The prognosis for interrupted aortic arch depends on the associated congenital anomalies, but the outcome is usually very poor unless there is surgical treatment. Survival into adulthood depends on the development of collateral circulation.
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Affiliation(s)
- Ahmet Ozkara
- Department of Cardiothoracic Surgery, Istanbul Liv Hospital, Istanbul, Turkey
| | - Mehmet Ezelsoy
- Department of Cardiothoracic Surgery, Istanbul Florence Nightingale Hospital, Istanbul, Turkey
| | - Levent Onat
- Department of Radiology, Istanbul Florence Nightingale Hospital, Istanbul, Turkey
| | - Ilhan Sanisoglu
- Department of Cardiothoracic Surgery, Istanbul Florence Nightingale Hospital, Istanbul, Turkey
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Centella Hernández T, Stanescu D, Stanescu S. Coartación aórtica. Interrupción del arco aórtico. CIRUGIA CARDIOVASCULAR 2014. [DOI: 10.1016/j.circv.2014.03.007] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/28/2023] Open
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19
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Interrupted aortic arch beyond adolescence repaired by prosthetic vestibule from common carotid-to-descending thoracic aorta. J Vasc Surg 2013; 59:246-7. [PMID: 24370085 DOI: 10.1016/j.jvs.2012.08.098] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/02/2011] [Revised: 08/26/2012] [Accepted: 08/26/2012] [Indexed: 11/23/2022]
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20
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Isolated interrupted aortic arch in adulthood. Herz 2013; 40:549-51. [DOI: 10.1007/s00059-013-4023-8] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/03/2013] [Accepted: 11/02/2013] [Indexed: 01/08/2023]
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21
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Liu XR, Miao Q, Ma GT, Zhang CJ, Cao LH. Isolated Type C Interrupted Aortic Arch in Adult: Extra-anatomic Repair Using Circulatory Arrest. ACTA ACUST UNITED AC 2013; 28:239-41. [DOI: 10.1016/s1001-9294(14)60010-9] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/25/2022]
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22
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Garcipérez de Vargas FJ, Marcos G, Mogollón MV, Gomez-Barrado JJ. Isolated interrupted aortic arch in an adult male. J Vasc Surg 2013; 58:1399. [DOI: 10.1016/j.jvs.2012.04.047] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/18/2011] [Revised: 08/19/2011] [Accepted: 04/10/2012] [Indexed: 10/26/2022]
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23
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Interrupted aortic arch in an adult with polycystic kidney disease. Case Rep Med 2013; 2013:404710. [PMID: 23840219 PMCID: PMC3690743 DOI: 10.1155/2013/404710] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/02/2013] [Revised: 05/08/2013] [Accepted: 05/20/2013] [Indexed: 11/21/2022] Open
Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and is responsible for 8–10% of patients with end-stage renal failure. The major extrarenal complications of ADPKD are cardiovascular abnormalities. Interrupted aortic arch (IAA) is a lethal congenital cardiac abnormality seen with a frequency of 3/1000000 births and is defined as a segment of the arcus aorta being atresic. In the literature, there are no any reports showing that polycystic kidney disease and interrupted aortic arch occur together. In this study, we present a rare case in which the patient has polycystic kidney disease and IAA together and discuss whether IAA is a complication of ADPKD.
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24
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Computational fluid dynamic simulations for determination of ventricular workload in aortic arch obstructions. J Thorac Cardiovasc Surg 2013; 145:489-495.e1. [DOI: 10.1016/j.jtcvs.2012.03.051] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/10/2011] [Revised: 03/13/2012] [Accepted: 03/19/2012] [Indexed: 11/19/2022]
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25
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Erkanli K, Onan B, Akt�rk IF, Bakir I. Surgical Repair for Isolated Aortic Interruption in a Young Adult. Heart Surg Forum 2012; 15:E289-91. [DOI: 10.1532/hsf98.20111192] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/20/2022]
Abstract
Interrupted aortic arch (IAA), a rare congenital malformation of the aortic arch, is defined as a loss of luminal continuity between the ascending and descending portions of the aorta. It is rarely diagnosed as an isolated anomaly in adulthood. Surgical repair is feasible through a sternotomy or thoracotomy incision. In this report, we describe the surgical repair of an isolated IAA in a 29-year-old patient by performing an ascending-to-descending aortic bypass via a sternotomy with cardiopulmonary bypass.
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26
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Vural A, Arsava EM, Ozgen B, Oguz KK, Efe O, Demircin M, Topcuoglu MA. Aortic Interruption Presenting with Recurrent Ischemic Strokes in an Adult. J Neuroimaging 2012; 23:234-6. [DOI: 10.1111/j.1552-6569.2011.00691.x] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/28/2022] Open
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27
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Congenital Thoracic Vascular Anomalies: Evaluation with State-of-the-Art MR Imaging and MDCT. Radiol Clin North Am 2011; 49:969-96. [DOI: 10.1016/j.rcl.2011.06.013] [Citation(s) in RCA: 38] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/23/2022]
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28
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Isolated interrupted aortic arch: unexpected diagnosis in a 63-year-old male. Case Rep Crit Care 2011; 2011:989621. [PMID: 24826328 PMCID: PMC4010033 DOI: 10.1155/2011/989621] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/04/2011] [Accepted: 05/25/2011] [Indexed: 01/08/2023] Open
Abstract
A 63-year-old male with history of hypertension, dyspnea on exertion, and chronic chest pain was admitted for elective cardiac angiography. Arterial blood pressure was 160/90 mmHg in both arms. Femoral and popliteal pulses were extremely weak, and third (S3) and fourth (S4) heart sounds were audible. Aortography showed a mildly dilated aortic root with double brachiocephalic trunk and interruption of aortic arch at isthmus. Profuse and well-developed collaterals appeared at neck and thorax. The patient was recommended to take medical treatment for his hypertension and advanced heart failure. The aim of this paper, is to review the diagnostic and therapeutic options for treatment of the interrupted aortic arch.
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29
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High-definition Power Doppler Ultrasound Facilitates Prenatal Diagnosis of Interrupted Aortic Arch. J Med Ultrasound 2011. [DOI: 10.1016/j.jmu.2011.05.005] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/18/2022] Open
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30
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Hypertension artérielle révélant une coarctation aortique serrée chez l’enfant : à propos d’un cas. Arch Pediatr 2011; 18:405-7. [DOI: 10.1016/j.arcped.2011.01.027] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/01/2010] [Revised: 08/01/2010] [Accepted: 01/19/2011] [Indexed: 11/20/2022]
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31
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Newborn with persistent truncus arteriosus and interrupted aortic arch demonstrating reverse left subclavian artery flow. Pediatr Cardiol 2010; 31:1254-6. [PMID: 20957476 DOI: 10.1007/s00246-010-9817-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/04/2010] [Accepted: 09/18/2010] [Indexed: 10/18/2022]
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32
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Baker-Smith CM, Milazzo AS, Frush DP, Jaggers J, Kirby ML, Kanter RJ, Barker PC. Double aortic arch with aortic atresia and left-sided type B interruption. CONGENIT HEART DIS 2010; 5:316-20. [PMID: 20576054 DOI: 10.1111/j.1747-0803.2009.00341.x] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/27/2022]
Abstract
Aortic valve atresia with interruption of the aortic arch is an extremely rare anomaly; only eleven cases of this anomaly have been reported to date. In the absence of additional sources of blood flow to the ascending aorta, aortic valve atresia with interruption of the aortic arch is fatal. We present, to the best of our knowledge, the first case of a live birth with aortic valve atresia and interrupted left aortic arch (type B) without evidence of an aorticopulmonary communication or ductal supply to the native ascending aorta. Instead, blood flow to the native aortic root was derived from a persistent right embryonic dorsal aorta.
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33
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Ghosh A, Liu A, Mora B, Agarwala B. Giant aortic arch aneurysm after interrupted aortic arch repair. Pediatr Cardiol 2010; 31:1104-6. [PMID: 20697703 DOI: 10.1007/s00246-010-9756-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/31/2010] [Accepted: 07/14/2010] [Indexed: 11/30/2022]
Abstract
An 8-year-old boy developed a large aneurysm of the aortic arch after neonatal complete repair of interrupted aortic arch type B and closure of a perimembranous ventricular septal defect. To our knowledge, this unusual complication has not been previously reported in the English literature.
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Affiliation(s)
- Alakananda Ghosh
- Section of Pediatric Cardiology, Department of Pediatrics, Comer Children's Hospital, University of Chicago, Chicago, IL, 60637-1470, USA
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34
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Frank L, Dillman JR, Parish V, Mueller GC, Kazerooni EA, Bell A, Attili AK. Cardiovascular MR Imaging of Conotruncal Anomalies. Radiographics 2010; 30:1069-94. [DOI: 10.1148/rg.304095158] [Citation(s) in RCA: 49] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
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35
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Isolated interrupted aortic arch: In a 40-year-old adult. Int J Cardiol 2010; 138:e39-41. [DOI: 10.1016/j.ijcard.2008.06.059] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/02/2008] [Accepted: 06/28/2008] [Indexed: 11/24/2022]
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36
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Celebi A, Yalcin Y, Polat TB, Akdeniz C, Zeybek C, Erdem A, Salih Bilal M. Late presentation of interrupted aortic arch in childhood. Pediatr Int 2009; 51:152-4. [PMID: 19371299 DOI: 10.1111/j.1442-200x.2008.02781.x] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/30/2022]
Affiliation(s)
- Ahmet Celebi
- Department of Pediatric Cardiology, Dr Siyami Ersek Thoracic and Cardiovascular Surgery Center, Istanbul, Turkey
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37
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Yildirim N, Aydin M, Hekimoglu K, Gungorduk A. Isolated interrupted aortic arch, a rare cause of hypertension in adults. Int J Cardiol 2008; 127:e52-3. [PMID: 17555833 DOI: 10.1016/j.ijcard.2007.04.008] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/06/2007] [Accepted: 04/01/2007] [Indexed: 10/23/2022]
Abstract
Interrupted aortic arch (IAA) is a rare and usually lethal congenital malformation. Patients with complete IAA very rarely do reach adult age without previous surgical intervention. The present report describes a 26-year-old asymptomatic isolated IAA case with hypertension that was incidentally diagnosed. IAA just distal to the left subclavian artery and a markedly developed collateral circulation was demonstrated by cardiac catheterization and thoracic 3D magnetic resonance angiography. This case report was also interesting that only mild arterial hypertension of the upper extremities was incidentally found in the patient.
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38
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39
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Matsui H, Adachi I, Uemura H, Gardiner H, Ho SY. Anatomy of coarctation, hypoplastic and interrupted aortic arch: relevance to interventional/surgical treatment. Expert Rev Cardiovasc Ther 2008; 5:871-80. [PMID: 17867917 DOI: 10.1586/14779072.5.5.871] [Citation(s) in RCA: 19] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/30/2022]
Abstract
Obstructive lesions in the aortic arch are comprised of discrete coarctation, tubular hypoplasia and interruption. This review discusses the anatomy of the lesions relevant to interventional treatment. Catheter intervention, using not only balloon angioplasty but also stent implantation for coarctation, has been developed over the past couple of decades as an alternative treatment to surgery. Several studies have reported long-term outcome and the benefits of surgery and catheter intervention for treating obstructive lesions in the aortic arch but more studies are needed for comparable evaluations. The development of imaging and further improvement of surgical and catheter intervention, such as hybrid intervention or new devices, will help in removing the obstruction safely.
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Affiliation(s)
- Hikoro Matsui
- Imperial College London and Royal Brompton and Harefield NHS Trust, UK
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40
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Atresia of the aortic arch, with a collateral artery from the right subclavian artery supplying the descending aorta. Cardiol Young 2008; 18:105-7. [PMID: 18093355 DOI: 10.1017/s1047951107001655] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/07/2022]
Abstract
An infant of 2 months presented with absence of the femoral pulses, albeit with no signs of cardiac failure. The mother was known to have ingested Valproate during pregnancy. Echocardiography showed the aortic arch to be interrupted between the left common carotid and left subclavian arteries, so-called type B interruption, in the setting of an intact ventricular septum. Angiography, and multislice computed tomography, revealed the descending aorta to be supplied by a collateral artery originating from the right subclavian artery. Corrective surgery was successfully performed, but revealed an atretic segment of the arch at the site of interruption of flow.
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41
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Sim MM, Chen CC. Transthoracic Echocardiographic Diagnosis of a Type C Interrupted Aortic Arch in an Adult. J Am Soc Echocardiogr 2007; 20:1418.e1-4. [PMID: 17683905 DOI: 10.1016/j.echo.2007.05.040] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/24/2007] [Indexed: 10/23/2022]
Abstract
Interrupted aortic arch is the complete loss of luminal continuity between the ascending aorta and the descending aorta and accounts for 1% of all congenital heart disease. Of the affected patients, 75% die within the first month of life and about 90% within the first year if not surgically treated. We report a case of an echocardiographic diagnosis of a type C interrupted aortic arch in an adult who presented with exertional dyspnea and angina after a recent coronary event.
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Affiliation(s)
- Ming-Ming Sim
- Department of Cardiology, Li Shin Hospital, Ping-Chen City, Taiwan.
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42
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Tanindi A, Tavil Y, Mutluay R, Taktak H, Cengel A. An unusual case of multiple aortic abnormalities: total occlusion of aortic arch, left external iliac artery, and bicuspid aortic valve in a 21-year-old man. Heart Vessels 2007; 22:131-5. [PMID: 17390210 DOI: 10.1007/s00380-006-0947-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/02/2006] [Accepted: 08/23/2006] [Indexed: 10/23/2022]
Abstract
An unusual case of total occlusion of aorta just distal to the left subclavian artery, bicuspid aortic valve, and occluded left external iliac artery in a 21-year-old man who was admitted with headache and severe hypertension is presented. We wish to report this case because so far there have been none reported with such multiple aortic abnormalities, although several documented cases of isolated total occlusion of aorta exist. Our patient underwent a successful surgical correction, i.e., patch plasty to the coarcted segment and end to side - end to side aortal-aortal bypass with Dacron graft.
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Affiliation(s)
- Asli Tanindi
- Department of Cardiology, Gazi University School of Medicine, Besevler, Ankara, Turkey.
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43
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Hsieh YC, Wu TJ, Wang KY, Liang KW, Lin WW, Chen YT, Ting CT. An adult with aortic arch interruption associated with sinus venosus atrial septal defect and partial anomalous pulmonary venous connection. J Chin Med Assoc 2007; 70:30-2. [PMID: 17276930 DOI: 10.1016/s1726-4901(09)70297-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 10/20/2022] Open
Abstract
Interruption of the aortic arch is a rare and usually lethal congenital anomaly that is often associated with multiple cardiac malformations. Most neonates with aortic arch interruption perish once the ductus arteriosus closes after birth. However, sporadic cases have been reported to survive into adulthood uneventfully. Here, we report a 19-year-old male with a 3-month history of exertional dyspnea. A series of cardiovascular studies confirmed the presence of aortic arch interruption in conjunction with sinus venosus atrial septal defect and partial anomalous pulmonary venous connection. To the best of our knowledge, such an association has not been previously reported in adults.
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Affiliation(s)
- Yu-Cheng Hsieh
- Cardiovascular Center, Taichung Veterans General Hospital, Taichung, Taiwan, R.O.C
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44
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Lai YQ, Zhou QW, Wei H, Zhang C, Zhang ZG. Intrapulmonary channel for one-stage correction of aortic arch obstruction. Asian Cardiovasc Thorac Ann 2006; 14:402-6. [PMID: 17005888 DOI: 10.1177/021849230601400511] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022]
Abstract
There are several methods of surgical repair of aortic coarctation or interruption; the optimal technique is still controversial. The purpose of this study was to assess a new surgical method: intrapulmonary channel for one-stage repair of aortic coarctation or interruption associated with intracardiac anomalies. Between 1993 and 1995, 4 patients with aortic coarctation or interruption and intracardiac anomalies received one-stage surgical correction. Their ages ranged from 5 to 26 years (mean, 16 years). The aortic arch lesions were preductal coarctation in 2, and type B interruption in 2. Coexisting anomalies consisted of patent ductus arteriosus in 4, ventricular septal defect in 3, and aortopulmonary window in 1. An intrapulmonary channel was constructed in all patients, and co-existing anomalies were corrected simultaneously. There was no hospital death or late mortality. A cerebral complication occurred in one patient because of air embolism. Mean follow-up was 9.5 years (range, 8.5-11.5 years). There was no evidence of recoarctation or late aneurysm formation. For selected patients with aortic coarctation or interruption and intracardiac anomalies, an intrapulmonary channel might be an option for one-stage correction.
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Affiliation(s)
- Yong-Qiang Lai
- Division of Cardiac Surgery, Beijing Anzhen Hospital, Capital University of Medical Sciences, 36 Wuluju, Chaoyang District, Beijing 100 029, China.
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45
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Affiliation(s)
- Vladimiro L Vida
- Paediatric Cardiac Surgery Unit, University of Padua Medical School, Italy.
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46
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Koşucu P, Koşucu M, Dinç H, Korkmaz L. Interrupted aortic arch in a adult: diagnosis with MSCT. Int J Cardiovasc Imaging 2006; 22:735-9. [PMID: 16683093 DOI: 10.1007/s10554-006-9099-2] [Citation(s) in RCA: 15] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/21/2006] [Accepted: 04/18/2006] [Indexed: 10/24/2022]
Abstract
Interrupted aortic arch (IAA) is a rare severe congenital heart defect defined as a complete loss of luminal and anatomic continuity between ascending and descending aorta. It is important that we made a good diagnosis and accurate evaluation of their morphologic conditions before a heart operation. We presented an 18-year-old girl of interrupted IAA diagnosed by multi-slice computed tomography angiography.
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Affiliation(s)
- Polat Koşucu
- Radiology, Medical School of Karadeniz Technical University, KTU Farabi Hospitol, Trabzon, 610800, Turkey.
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47
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Ng'walali PM, Ohtsu Y, Tsunenari S. Interrupted aortic arch with ventricular septal defect: an unsuspected fatal congenital anomaly in forensic pathology. ACTA ACUST UNITED AC 2004; 9:185-8. [PMID: 15274935 DOI: 10.1016/s1353-1131(02)00125-6] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/03/2002] [Indexed: 10/27/2022]
Abstract
Interrupted aortic arch (IAA) is a relatively rare cardiovascular anomaly worldwide and is very rarely encountered in forensic pathology. A case of clinically unsuspected fatal IAA in a 5-day old neonate is described. A full term female baby was declared dead on arrival at an emergency hospital few hours after having been discharged from a maternity hospital following delivery. There were no noticeable signs and symptoms reported during the short postnatal period. Antenatal medical history was unremarkable and there were no abnormalities noticed at birth. Autopsy revealed an unsuspected IAA arch with ventricular septal defect (VSD) as cause of sudden unexpected death. Although amenable to surgical intervention, IAA may not produce obvious clinical symptoms as was the case for this baby. Such sudden unexpected deaths raise medico-legal questions as to the manner and the precise cause of death. The importance of a full forensic autopsy to clarify such a sudden death was re-emphasized.
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Affiliation(s)
- P M Ng'walali
- Department of Forensic Medicine, Kumamoto University School of Medicine, Kumamoto, Japan.
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48
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Takabayashi S, Shomura S, Yokoyama K, Miyake Y, Shimpo H, Yada I. Spontaneous closure of ductus arteriosus in interrupted aortic arch with ventricular septal defect. ACTA ACUST UNITED AC 2004; 52:98-100. [PMID: 14997983 DOI: 10.1007/s11748-004-0095-y] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/21/2022]
Abstract
A 2-month-old boy diagnosed with interrupted aortic arch type B was treated with a two-stage procedure. His ductus arteriosus had closed spontaneously. Collaterals via both vertebral arteries developed. A 15-mm stenotic segment existed between the left subclavian artery and the descending aorta. The direct anastomosis between the common carotid artery and the descending aorta was performed as a first palliation at the age of 3 months. The left subclavian artery was reconstructed by end-to-side anastomosis to the descending aorta. The postoperative course was uneventful. The closure of ventricular septal defect and pulmonary artery debanding were performed as a second operation 4 months after the first palliation. The patient is alive and well 7 months after the second operation.
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Affiliation(s)
- Shin Takabayashi
- Department of Thoracic and Cardiovascular Surgery, Mie University School of Medicine, Tsu, Mie, Japan
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49
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Abstract
Interruption of the aortic arch is defined as absence of luminal continuity between the ascending and the descending aorta. This is not an isolated defect; it occurs in conjunction with other cardiac defects such as ventricular septal defect and patent ductus arteriosus. It is a rare malformation. It occurs in about 1% of the patients with congenital heart defects.
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Affiliation(s)
- Satinder K. Sandhu
- Pediatric Cardiology, Louisiana State University Medical Center, Children's Hospital, 200 Henry Clay Avenue, New Orleans, LA 70118, USA.
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50
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Alabdulkarim N, Knudson OA, Shaffer E, Macheras J, Degroff C, Valdes-Cruz L. Three-dimensional imaging of aortic arch anomalies in infants and children with intravascular ultrasound catheters from a transesophageal approach. J Am Soc Echocardiogr 2000; 13:924-31. [PMID: 11029717 DOI: 10.1067/mje.2000.107795] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/22/2022]
Abstract
Aortic arch anomalies usually require surgical intervention preceded by precise anatomic definition. We studied 20 patients to evaluate the feasibility and accuracy of using intravascular ultrasound catheters from a transesophageal approach with 3-dimensional image reconstruction for the diagnosis of aortic arch anomalies in infants and children. All patients had transthoracic echocardiograms and/or angiograms or magnetic resonance imaging. A 12.5-MHz intravascular ultrasound catheter was positioned in the esophagus and withdrawn by using an electrocardiogram and a respiratory gated pullback device to acquire the mediastinal images. All patients with arch anomalies underwent surgical repair. Reconstructed images were analyzed in the "anyplane" mode and with surface rendering. Intravascular ultrasound 3-dimensional imaging was successfully accomplished without complications. Anatomy was correctly identified in all patients by both blinded and unblinded observers, thus confirming the sensitivity and accuracy of the technique. We foresee this new technique to be useful as an adjunctive imaging modality applicable at the bedside or in the cardiac imaging laboratory.
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Affiliation(s)
- N Alabdulkarim
- Children's Hospital, University of Colorado Health Sciences Center, Denver, Colorado 80218, USA
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