SMAD1 Loss-of-Function Variant Responsible for Congenital Heart Disease

Table 1

Clinical characteristic data and SMAD1 variation status of the pedigree members suffering from congenital heart disease.

Individual (family 1)	Gender	Age (years)	Cardiac structural defects	SMAD1 variation (Tyr88)
I-1	Male	69	PDA, VSD, PS	NA
II-3	Male	55	PDA
II-5	Male	52	PDA, VSD, PS
III-5	Male	29	PDA
III-8	Female	27	PDA
III-12	Female	26	PDA, VSD, PS
IV-4	Male	6	PDA
IV-5	Female	4	PDA
IV-7	Male	3	PDA, VSD

NA: not available; PDA: patent ductus arteriosus; PS: pulmonary arterial stenosis; VSD: ventricular septal defect; : heterozygote for the SMAD1 variation. Age at death.