TABLE 4.
Pathogenic/Likely Pathogenic Variants Identified in the 36 Cardiovascular Disease–Related Genes and Prevalence of Expected Traits in Participants With These Variants
| Disease | Genes | Variants (No.) | P/LP variants | P/LP carriers | Expected traits (%) |
||
|---|---|---|---|---|---|---|---|
| Yes | No | Uncertaina | |||||
| Aortopathy/aneurysmal disease | |||||||
| Ehlers-Danlos syndrome | COL5A1, COL3A1 | 1796, 523 | 1 | 1 | 0 | 0 | 1 |
| Familial thoracic aortic aneurysm | MYH11, ACTA2, MYLK | 1178, 133, 700 | 0 | 0 | 0 | 0 | 0 |
| Loeys-Dietz syndrome | TGFBR1, TGFBR2, SMAD3 | 153, 228, 319 | 2 | 2 | 0 | 0 | 2 |
| Marfan syndrome | FBN1 | 1024 | 3 | 5 | 1 | 0 | 4 |
| Arrhythmia | |||||||
| Catecholaminergic polymorphic ventricular tachycardia | RYR2, TMEM43 | 2591, 179 | 2 | 2 | 0 | 2 | 0 |
| Long QT syndrome/Brugada syndrome | SCN5A, KCNQ1, KCNH2, KCNE1, KCNJ2 | 663, 760, 359, 125, 38 | 8 | 8 | 2 | 3 | 3 |
| Cardiomyopathy | |||||||
| Arrhythmogenic cardiomyopathy | DSG2, DSC2, DSP, PKP2 | 269, 280, 462, 311 | 6 | 6 | 0 | 1 | 5 |
| Dilated cardiomyopathy | LMNA | 208 | 1 | 1 | 0 | 1 | 0 |
| Hypertrophic cardiomyopathy | MYBPC3, MYH7, MYL2, ACTC1, TPM1, PRKAG2, TNN13, MYL3, TNNT2, GLA | 401, 407, 125, 81, 288, 617, 123, 69, 261, 132 | 7 | 9 | 1 | 3 | 5 |
| Metabolic | |||||||
| Familial hypercholesterolemia | LDLR, APOB, PCSK9 | 440, 574, 285 | 19 | 28 | 27 | 1 | 0 |
| Diabetes | HNF1A, HNF1B | 198, 209 | 11 | 11 | 2 | 9 | 0 |
a
Uncertain includes those with a borderline abnormal trait or absence of key phenotype data (eg, electrocardiogram/echocardiogram).