Przytuła N, Dziewięcka E, Winiarczyk M, Graczyk K, Stępień A, Rubiś P. Hypertrophic cardiomyopathy and left ventricular non-compaction: Distinct diseases or variant phenotypes of a single condition? World J Cardiol 2024; 16(9): 496-501 [PMID: 39351333 DOI: 10.4330/wjc.v16.i9.496]
Corresponding Author of This Article
Ewa Dziewięcka, MD, PhD, Doctor, Department of Cardiac and Vascular Diseases, Institute of Cardiology, Jagiellonian University Collegium Medicum, Saint John Paul II Hospital, 80 Prądnicka Street, Krakow 31-202, MA, Poland. ewa@dziewiecka.pl
Research Domain of This Article
Cardiac & Cardiovascular Systems
Article-Type of This Article
Editorial
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Cardiol. Sep 26, 2024; 16(9): 496-501 Published online Sep 26, 2024. doi: 10.4330/wjc.v16.i9.496
Hypertrophic cardiomyopathy and left ventricular non-compaction: Distinct diseases or variant phenotypes of a single condition?
Natalia Przytuła, Ewa Dziewięcka, Mateusz Winiarczyk, Katarzyna Graczyk, Agnieszka Stępień, Paweł Rubiś
Natalia Przytuła, Ewa Dziewięcka, Mateusz Winiarczyk, Katarzyna Graczyk, Agnieszka Stępień, Paweł Rubiś, Department of Cardiac and Vascular Diseases, Saint John Paul II Hospital, Krakow 31-202, MA, Poland
Ewa Dziewięcka, Mateusz Winiarczyk, Katarzyna Graczyk, Agnieszka Stępień, Paweł Rubiś, Department of Cardiac and Vascular Diseases, Institute of Cardiology, Jagiellonian University Collegium Medicum, Saint John Paul II Hospital, Krakow 31-202, MA, Poland
Author contributions: Dziewięcka E and Rubiś P were responsible for conceptualization, methodology, and funding acquisition; Rubiś P was responsible for validation and supervision; Dziewięcka E was responsible for formal analysis, writing review, editing, and project administration; Przytuła N, Dziewięcka E, Winiarczyk M, Graczyk K, and Stępień A were responsible for investigation and data curation; Przytuła N was responsible for writing original draft preparation; all authors have read and agreed to the published version of the manuscript.
Supported byThe Department of Scientific Research and Structural Funds of Medical College, Jagiellonian University, No. N41/DBS/000594.
Conflict-of-interest statement: The Authors declare no conflict of interest.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Ewa Dziewięcka, MD, PhD, Doctor, Department of Cardiac and Vascular Diseases, Institute of Cardiology, Jagiellonian University Collegium Medicum, Saint John Paul II Hospital, 80 Prądnicka Street, Krakow 31-202, MA, Poland. ewa@dziewiecka.pl
Received: May 27, 2024 Revised: August 2, 2024 Accepted: August 21, 2024 Published online: September 26, 2024 Processing time: 114 Days and 14.4 Hours
Abstract
Hypertrophic cardiomyopathy (HCM) is a genetically determined myocardial disease characterized by an increased thickness of the left ventricle (LV) wall that cannot be solely attributed to abnormal loading conditions. HCM may present with an intraventricular or LV outflow tract obstruction, diastolic dysfunction, myocardial fibrosis and/or ventricular arrhythmias. Differentiating HCM from other diseases associated with LV hypertrophy, such as hypertension, aortic stenosis, or LV non-compaction (LVNC), can at times be challenging. LVNC is defined by excessive LV trabeculation and deep recesses between trabeculae, often accompanied by increased LV myocardial mass. Previous studies indicate that the LVNC phenotype may be observed in up to 5% of the general population; however, in most cases, it is a benign finding with no impact on clinical outcomes. Nevertheless, LVNC can occasionally lead to LV systolic dysfunction, manifesting as a phenotype of dilated or non-dilated left ventricular cardiomyopathy, with an increased risk of thrombus formation and arterial embolism. In extreme cases, where LVNC is associated with a very thickened LV wall, it can even mimic HCM. There is growing evidence of an overlap between HCM and LVNC, including similar genetic mutations and clinical presentations. This raises the question of whether HCM and LVNC represent different phenotypes of the same disease or are, in fact, two distinct entities.
Core Tip: Hypertrophic cardiomyopathy (HCM) is a genetic myocardial disease marked by increased left ventricle (LV) wall thickness in the absence of abnormal loading conditions. Differentiating HCM from other conditions with LV hypertrophy, such as hypertension, aortic stenosis, or LV non-compaction (LVNC), can be challenging. LVNC is characterized by excessive LV trabeculation and deep recesses, affecting up to 5% of the general population. While typically benign, LVNC can occasionally lead to systolic dysfunction and arterial embolism. The overlap between HCM and LVNC, including genetic mutations and clinical features, raises the question of whether they are distinct diseases or variations of the same condition.
