Value of Genetic Testing for the Prediction of Long-Term Outcome in Patients with Hypertrophic Cardiomyopathy

Abstract Pathogenic gene mutations are found in about 50 % of hypertrophic cardiomyopathy (HC) patients. Previous studies have shown an association between sarcomere mutations and medium-term outcome. The association with long-term outcome has not been described. The aim of this cohort study was to assess the long-term outcomes of genotype positive (G+) and genotype negative (G-) HC patients. The study population consisted of 626 HC patients (512 probands, and 114 relatives) who underwent phenotyping and genetic testing between 1985 and 2014. End points were: all-cause mortality, cardiovascular (CV) mortality, heart failure (HF) related mortality and sudden cardiac death/aborted sudden cardiac death (SCD/aborted SCD). Kaplan Meier and multivariate cox regression analyses were performed. A pathogenic mutation was detected in 327 (52%) patients. G+ probands were younger than G- probands (46±15 vs 55±15 years, p