Poor Prognosis of Rare Sarcomeric Gene Variants in Patients With Dilated Cardiomyopathy

摘要: Background In dilated cardiomyopathy (DCM), the clinical and prognostic implications of rare variants in sarcomeric genes remain poorly understood. To address this question, we analyzed outcome gene patients enrolled our Familial Cardiomyopathy Registry. Methods DCM families harboring MYH6, MYH7, MYBPC3, TNNT2, TTN were identified. Genotype-phenotype association analysis was performed, long-term survival-free from death or heart transplant compared between carriers noncarriers. Results We found 24 (3 3 2 13 TTN) affecting 52 subjects 25 families. The phenotypes variant severe sudden deaths, 6 failure 8 transplants, ventricular fibrillations). There no difference overall survival 33 noncarriers (p = 0.322). However after 50 years age, combined endpoint decreased as to 0.026). Conclusions Patients with carrying manifest a poorer prognosis age years. These data further support role genetic testing for risk stratification.