Hypertrophic cardiomyopathy in children

Hypertrophic cardiomyopathy (HCM) is a genetic condition causing unexplained left ventricular hypertrophy. The diagnosis management and risk stratification in the pediatric ages is often a challenge. At present the pillars of the diagnosis are echocardiography, electrocardiography and comprehensive family screening. The genetic diagnosis still only available in research units allows the diagnosis of those carrying a mutation. HCM is however characterized by broad heterogeneity as well a variable penetrance. It is important to stress the importance diagnosis of HCM within the spectrum of other conditions different than the typical HCM originated in mutation in the genes encoding the sarcomeric proteins. Other causes of unexplained left ventricular hypertrophy like mitochondrial diseases, Noonan syndrome, Danon's disease, Anderson-Fabry disease, metabolic syndrome and storage disease need to be excluded in order to improve the management and genetic counseling advice. HCM is a recognized cause of sudden cardiac death, therefore routine follow up need to ensure the identification of the subjects at high risk of sudden cardiac death. Severe left ventricular hypertrophy and non sustained ventricular tachycardia are amongst the risk markers for sudden cardiac death the ones with stronger predicted value in childhood. ICD implantation is effective in preventing sudden cardiac death in children with HCM. There is increasing evidence and experience to support the decision process leading to safe implantation of an ICD. Management of symptomatic patients with HCM requires identification of those with left ventricular outflow tract gradient.