Table 1 CHD and extracardiac phenotypes in patients with syndromic CHD
From: Copy number variant analysis for syndromic congenital heart disease in the Chinese population
CHD phenotypes | Total N (%) | Neurodevelopmental disorders n (%) | Genitourinary defects n (%) | Craniofacial defects n (%) | Digestive system defects n (%) | Limbs defects n (%) | Musculoskeletal disorders n (%) | Respiratory system defects n (%) | Endocrine system disorders n (%) | Others n (%) |
|---|---|---|---|---|---|---|---|---|---|---|
A. Septal defects | 72 (66.1) | 30 (41.7) | 10 (13.9) | 7 (9.7) | 7 (9.7) | 4 (5.6) | 7 (9.7) | 2 (2.8) | 4 (5.6) | 1 (1.4) |
B. Isolated abnormities of valves | 3 (2.8) | 0 (0.0) | 1 (33.3) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 1 (33.3) | 1 (33.3) |
C. Septal defects with abnormities of valves | 5 (4.6) | 2 (40.0) | 0 (0.0) | 2 (40.0) | 0 (0.0) | 1 (20.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) |
D. Obstruction of left ventricular outflow tract | 8 (7.3) | 2 (25.0) | 1 (12.5) | 1 (12.5) | 2 (25) | 0 (0.0) | 0 (0.0) | 1 (12.5) | 1 (12.5) | 0 (0.0) |
E. Isolated conotruncal defects | 3 (2.8) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 1 (33.3) | 0 (0.0) | 1 (33.3) | 0 (0.0) | 0 (0.0) | 1 (33.3) |
F. Compound conotruncal defects | 11 (10.1) | 3 (27.3) | 0 (0.0) | 2 (18.2) | 1 (9.1) | 0 (0.0) | 3 (27.3) | 0 (0.0) | 0 (0.0) | 2 (18.2) |
G. Heterotaxy syndrome | 1 (0.9) | 0 (0.0) | 0 (0.0) | 1 (100.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) |
H. Others | 6 (5.5) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 1 (16.7) | 0 (0.0) | 4 (66.7) | 0 (0.0) | 1 (16.7) |
Total | 109 | 37 (33.9) | 12 (11.0) | 13 (11.9) | 11 (10.1) | 6 (5.5) | 11 (10.1) | 7 (6.4) | 6 (5.5) | 6 (5.5) |