What is genetic testing yield in DCM?

Overall genetic testing yield in DCM is 20-35%. Yield is higher in familial DCM (30-50%) than sporadic cases (15-25%). TTN truncating variants account for ~25% of familial DCM.

Which genes cause DCM?

Major DCM genes include TTN (titin, most common), LMNA (laminopathy, high arrhythmia risk), SCN5A, MYH7, MYBPC3, PLN, RBM20, and FLNC. LMNA DCM has distinct high-risk arrhythmia phenotype.

How should family members be screened?

First-degree relatives of DCM probands should have ECG and echocardiography every 3-5 years. Genetic cascade testing is recommended when a pathogenic variant is identified.

DLD DCM Familial Testing Yield

Estimate the genetic testing yield in dilated cardiomyopathy (DCM) for familial vs sporadic cases and guide cascade family testing based on index case genetic result.

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