0066 : Clinical outcomes of childhood hypertrophic cardiomyopathy associated with RASopathy: the Necker Sick Children Hospital experience

Abstract

Because it represents few patients and a heterogeneous group of disorders, the natural outcomes for children with hypertrophic cardiomyopathy (HCM) are unclear; even more with regard to RASopathies. The aim of this study was to determinate outcomes of children with hypertrophic cardiomyopathy associated with RASopathy according to their therapeutic strategy. Patients in this study were identified between December 1980 and December 2012 in the Congenital and Pediatric Cardiology Unit of Necker Sick Children Hospital in Paris (France). The RASopathy cohort consisted of 81 children with clinical phenotypic diagnostic and echocardiographic hypertrophy cardiomyopathy. The median age at diagnosis of cardiomyopathy was 11,5 +/- 8 months without expecting 9 antenatal diag 46% and 75% of all RASopathy children were diagnosed with cardiomyopathy respectively before 1 months and 1 year. The duration of median follow-up was 8,2 +/- 7,7 years after date of birth. 35% of the study cohort required at least 1 surgical procedure. 82% of deaths occurred before 1 year of life in children with RASopathy and HCM. Risk factors for mortality in the first year of life were antenatal diagnosis (HR=3,38), surgery before 1 year of life (HR=3,38), HCM diagnosed before 2 months of life (HR=2,85), and male (HR=1,21). All deaths after 1 year of life were due to sudden death. 4 children had regressive hypertrophy. At the latest follow-up, 37% (n=11/28) children survived. The outcome of children with hypertrophic cardiomyopathy due to RASopathy is frightful and early with 80% of survey at 1 year of life. Main risk factors seem to be antenatal diagnosis, surgery before 1 year of life, and HCM diagnosed before 2 months of life.