Secondary/incidental findings are becoming particularly relevant because patients are increasingly undergoing genetic testing with exome or genome sequencing in order to maximize the chance of identifying causal pathogenic variants and because costs between gene panels and exomes/genomes are narrowing.
List of Genes Associated With Cardiovascular Disorders in Which Secondary/Incidental Findings Are Reportable
| Condition | Gene |
|---|---|
| Ehlers-Danlos syndrome, vascular type | COL3A1 |
| Marfan syndrome, Loeys-Dietz syndromes, and familial thoracic aortic aneurysms and dissections | FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYH11 |
| HCM, DCM | MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, GLA, MYL2, LMNA |
| Catecholaminergic polymorphic ventricular tachycardia | RYR2 |
| ARVC | PKP2, DSP, DSC2, TMEM43, DSG2 |
| Romano-Ward long-QT syndrome types 1, 2, and 3, Brugada syndrome | KCNQ1, KCNH2, SCN5A |
| FH | LDLR, APOB, PCSK9 |
