Hypertrophic Cardiomyopathy in an 8 Year Old Boy: A Case Report

Abstract

Background: Hypertrophic cardiomyopathy is the second most common form of heart muscledisease that affects children and adolescents. It is also a leading cause of sudden death in youngathletes. It is usually under-recognised or clinical diagnosis is delayed. The etiology of HCM isheterogeneous in the paediatric population, and includes inborn errors of metabolism, neuromuscular disorders and malformation syndromes. However, most cases of HCM inchildhood are caused by mutations in cardiac sarcomere protein genes. HCM can causearrhythmic sudden death, heart failure and atrial fibrillation with embolic stroke. Clinicaldiagnosis is based on otherwise unexplained left-ventricular hypertrophy identified byechocardiography or cardiovascular MRI. Case report: An 8 year old boy was hospitalised to LUHS Kauno Klinikos Pediatric cardiology Department due to intermittent paleness of skin which quickly resolves itself. There were no syncopes or palpitations. The patient is being monitored from May 2019 because of WPW syndrome and hypertrophic cardiomyopathy. In 2019 radiofrequency ablation (RFA) was performed however the bundle of Kent was not fully eliminated. Also the mutation of PRKA G2 gene was diagnosed. During inspection a rough systolic murmur was heard, ECG and echocardiogram were performed. The results showed signs of WPW and HCM. The patient was released home with recommendations to limit physical activity and continue treatment with propranolol. Conclusions: It is important to early diagnose hypertrophic cardiomyopathy and prescribe appropriate treatment.