TABLE 1.

Characteristics of family members and genotypes

Case number	Sex	Age	Symptoms	Defect size (cm)	Cardiac structure	Cardiac Shunts	Gene type of SLC2A3 (rs3931701)
Family A Ⅰ‐1	Male	65	‐	‐	Normal	No	CT
Family A Ⅰ‐2	Female	63	Died due to heart disease	‐	Normal	No	‐
Family A Ⅱ‐1	Male	40	secundum ASD	1.53/1.85	Right heart enlargement with pulmonary hypertension	Left to right	TT
Family A Ⅱ‐2	Female	36	‐	‐	Normal	No	CT
Family A Ⅱ‐3	Male	32	‐	‐	Normal	No	CT
Family A Ⅱ‐4	Female	32	‐	‐	Normal		CC
Family A Ⅲ‐1	Male	14	multi‐hole PmVSD	0.26/0.17/0.12	Tricuspid regurgitation	Left to right	TT
Family A Ⅲ‐2	Male	10	‐	‐	Normal	No	CT
Family A Ⅲ‐3	Female	13	‐	‐	Normal	No	CC
Family B Ⅰ‐1	Male	62	Died due to heart disease	‐	Normal	No	‐
Family B Ⅰ‐2	Female	59	‐	‐	Normal	No	CC
Family B Ⅱ‐1	Female	31	secundum ASD	1.5/2	Right heart enlargement with pulmonary hypertension	Left to right	CT
Family B Ⅱ‐2	Male	30	‐	‐	Normal	No	CT
Family B Ⅲ‐1	Male	4	secundum ASD	0.3/0.35	Normal	Left to right	TT

Abbreviations: ASD, atrial septal defect; VSD, ventricular septal defect.