Objectives Hypertrophic cardiomyopathy (HC) is a hereditary heterogeneous cardiovascular disorder. Data published to date was mainly in Caucasians and large study is needed in Chinese population. We were aimed to explore the genetic basis and the clinical characteristics correlate with different genotypes in a large cohort of Chinese patients.
Methods Direct sequencing of β-myosin heavy chain (MYH7), myosin binding protein-C (MYBPC3) and cardiac troponin T (TNNT2) genes was performed in 136 unrelated Chinese HC patients. Clinical evaluation was assessed in all patients.
Results In total, 32 mutations were identified in 36 patients (27%), including 10 novel ones. Distribution of mutations was 56% (MYBPC3), 31% (MYH7) and 13% (TNNT2). Double mutations were identified in 3% patients. The occurrence of HC-associated sarcomeric mutations were associated with an earlier age of onset, increased left ventricular hypertrophy, a higher incidence of syncope, family history and sudden cardiac death. No statistical difference was identified in patients carrying MYBPC3 and MYH7 mutations with regard to the clinical characteristics and outcome. Patients with double mutations were associated with malignant clinical process in the study.
Conclusions In conclusion, MYBPC3 is the most predominant gene. Multiple mutations were common in MYH7, MYBPC3 and TNNT2. This study suggested the diversity of HC and a prognostic role of genotype.