Since the initial description of hypertrophic cardiomyopathy (HCM), sudden cardiac death (SCD) occurring in young and usually asymptomatic patients has received substantial attention in the literature as the most devastating consequence of the disease. Present data from non-referral centres show a benign course of the disease with a subgroup of high risk patients.1
Molecular genetics have reconfirmed familial HCM as being an autosomal dominant disease with hundreds of mutations in 10 genes encoding sarcomeric proteins.1 Cardiac troponin T (TNNT2) gene mutations have been reported to be consistently associated with a malignant clinical prognosis and the prevalence has been reported to be in the region of 15–20%.2 Recent epidemiological studies in unselected HCM populations lower this percentage dramatically.3 Clinical expression and prognosis of HCM in Greece seems to have a benign course and a moderate morphologic expression.4
So far, the prevalence and type of mutations for any HCM associated gene has not been reported in Greece. Screening the Greek HCM probands for TNNT2 mutations is the first step to assess the occurrence and overall prevalence of the supposed more aggressive and malignant subset of HCM mutations.