Cardiomiopatia hipertrofică neonatală în asociere cu alte manifestări clinice

Abstract

Hypertrophic cardiomyopathy (CMH) is a primary heart disease characterized by unexplained left ventricular hypertrophy. Medical statistics estimate a rate of 3-5 cases per 1 million children. Infantile CMH is often caused by a genetic syndrome, with cardiac hypertrophy being only part of the full phenotypic expression. The authors present a clinical case of a newborn with hypertrophic cardiomyopathy diagnosed with EcoCg and CT angiography. A wide range of molecular-genetic tests, clinical and paraclinical investigations were performed in the child to identify the cause of CMH.