TNNT2 5 bp deletion, sedentary lifestyle & abdominal adiposity accentuate the phenotypic severity in hypertrophic cardiomyopathy patients

Abstract

Hypertrophic cardiomyopathy (HCM) is a common cardiac genetic disorder having phenotypic heterogeneity, which can be attributed to interaction of certain environmental risk factors and lifestyle modifications. HCM cases and clinically evaluated controls were evaluated for lifestyle, anthropometric, physiological and biochemical variables, followed by screening of HCM associated genetic variations (5bpDel in TNNT2, 25bpDel in MYBPC3, 287bpDel in ACE and T-786C in eNOS). Sedentary lifestyle, waist-hip ratio, total serum cholesterol and triglycerides along with 5bpDel in TNNT2 gene were found to be significantly associated with the disease condition (p < 0.05; adjusted for age and sex). Further analysis of these significant risk factors in cases shows that sedentary lifestyle, waist-hip ratio along with 5 bp Del in TNNT2 gene had an added effect on disease severity. Among HCM patients, we found that LV and IVS wall thickness are more regulated by physical activity as compared to genetic defects. This study infers that these modifiable risk factors may not express independently but plays an important role in disease phenotype as a contributor, with major/minor risk stratification. Management of risk factors such as physical activity and eating habit may benefit HCM patients having TNNT2 deletion polymorphism in living a quality life with good prognosis.