Background—The penetrance of hypertrophic cardiomyopathy (HCM) during childhood and
adolescence has been only sparsely described. We studied the penetrance of HCM and the
short-and long-term outcomes of clinical screening and predictive genetic testing of child
relatives of patients with HCM. Methods and Results—Ninety probands and 361 relatives
were included in a family screening program for HCM (1994–2001). Eleven sarcomere
genes, CRYAB, α-GAL, and titin were screened. Sixty-six relatives and 4 probands were< 18 …

Objectives To investigate the presence of hypertrophic cardiomyopathy (HCM) at first
cardiac evaluation and during follow-up and cardiac events in predictively tested children
who are mutation positive. Study design The study included 119 predictively tested children
who were mutation positive, with a mean age of 12.1 years. A family history and clinical
variables from all cardiac evaluations after predictive genetic testing were recorded.
Outcome measures were a clinical diagnosis of HCM, death, and cardiac events. Results No …