Pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia and family gene analysis: A case report

Table 1 Cardiac ultrasound data of the proband

	February 11, 2019, A	April 16, 2019, B	November 8, 2019, C
ID of aortic root in mm	30	31	26
ID of left atrium in mm	31	35	36
ID of right ventricle in mm	43	57	54
Interventricular septum thickness in mm	8	8	8
Left ventricular end diastolic diameter in mm	49	40	45
Left ventricular posterior wall thickness in mm	8	8	8
ID of pulmonary artery in mm	33	37	34
Forward peak velocity in m/s
Peak E of mitral valve	1.01	0.6	0.8
Peak A of mitral valve		0.8	1.2
Tricuspid valve		1.3	0.8
Aortic valve	1.1	1.2	1.2
Pulmonary valve	0.96	1.0	0.8
EDV in mL	118	52	127
ESV in mL	31	23	58
SV in mL	87	29	69
EF, %	73	56	55
Peak velocity of tricuspid regurgitation in m/s	4.1	3.9	3.6
Pulmonary artery systolic pressure in mmHg	77	75	72
Depth of pericardial effusion in mm	12	11-14	21
ID of inferior vena cava in mm		25	19
Variation of inferior vena cava ID with respiration, %		< 20	< 20

ID: Inner diameter; EDV: Left ventricular end diastolic volume; ESV: Left ventricular end systolic volume; SV: Stroke volume; EF: Left ventricular ejection fraction.

Table 2 Summary of gene mutations associated with pulmonary arterial hypertension in the family

Pulmonary arterial hypertension-related gene mutation	Mutation site dbSNP	Subjects with the positive gene mutation1
ACVRL1	rs121909284	β, γ, δ, ε, ζ
	rs706815	α, β, γ, δ, ε, ζ
BMPR2	rs11390605	α, β, γ, δ, ε, ζ
SMAD4	rs57847829	β, γ
BMPR1B	rs1365691	β, δ
CAV1	rs1997623	α, β, γ, δ, ε, ζ
	rs2742125	α, β, γ, δ, ε, ζ
KCNK3	rs1275920	α, β, γ, δ, ε, ζ
	rs1663002	α, β, γ, δ, ε, ζ
TBX2	rs35619711	α, β, γ, δ, ε, ζ
	rs9891115	α, β, γ, δ, ε, ζ
	rs2240736	α, β, γ, δ, ε, ζ
	rs1057987	α, β, γ, δ, ε, ζ
TBX4	rs3744447	α, β, γ, δ, ε, ζ
CBLN2	rs59751882	β, ζ
	rs17853471	β, ζ
	rs7237888	α, β, γ, δ, ε, ζ
CYP1B1	rs1056837	α, β, γ, δ, ε, ζ
	rs1056836	α, β, γ, δ, ε, ζ
BAX	rs4645881	α, β, γ, δ, ε, ζ
	rs1805419	α, β, γ, δ, ε, ζ
STAT3	rs3830585	α, β, γ, δ
	rs199748968	α, β
	rs2293152	α, β, γ, δ, ε, ζ

¹Refer to the pedigree chart (Figure 3) for family members corresponding to Greek letters. dbSNP: Single-nucleotide polymorphism database.