Genetic risk of arrhythmic phenotypes in patients with dilated cardiomyopathy
Journal of the American College of Cardiology Sep 17, 2019
Gigli M, Merlo M, Graw SL, et al. - In an extensive cohort of dilated cardiomyopathy patients (n = 487), researchers assessed the prognostic role of genetic variant carrier status. They performed next-generation sequencing and classified the disease genes into functional gene groups. In 178 patients (37%), they discovered 183 pathogenic/likely pathogenic variants: 54 (11%) Titin; 19 (4%) Lamin A/C (LMNA); 24 (5%) structural cytoskeleton-Z disk genes; 16 (3.5%) desmosomal genes; 46 (9.5%) sarcomeric genes; 8 (1.6%) ion channel genes; and 11 (2.5%) other genes. Variant carriers and noncarriers demonstrated no difference in all-cause mortality. Carriers showed a trend towards worse sudden cardiac death/sustained ventricular tachycardia/ventricular fibrillation (SCD/VT/VF) and heart failure–related death, heart transplantation, or destination left ventricular assist device implantation. The highest rate of SCD/VT/VF was found in carriers of desmosomal and LMNA variants, independently of the left ventricular ejection fraction.
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