Martina Útla1, Michal Jánoš1, Ivana Staňová2
Hypertrophic cardiomyopathy (HCMP) is the most common genetic heart disease. It’s a primary and familiar cardiac disorder with heterogeneous expression and diverse clinical course. HCMP is characterized by thickening of the left or right ventricular wall, contractile dysfunction and potentially fatal arrhythmias. HCMP has a considerable genotypic an phenotypic heterogenity. Over 1400 mutations have been identified, classically in genes encoding sarcomeric proteins. The clinical picture may be very different among the patients- ranging from asymptomatic mutation carriers to sudden death as the first manifestation of the disease. The patients are mostly asymptomatic, but some of them suffer from dyspnea, syncope and palpitations. Treatment to relieve the symptoms consist of medications such as β-blockers and calcium channel blockers. Sudden death is the most common cause of sudden death in children with HCMP. The authors refer the case report about sudden death of 9-days old infant caused by hypertrophic cardiomyopathy.