Family screening of hypertrophic cardiomyopathy in children: a case report

Abstract

Background Paediatric hypertrophic cardiomyopathy (HCM) caused by sarcomere protein gene mutations is more common than previously thought. We present the case of a 9-year-old boy that was diagnosed with HCM during family screening. Case Summary We present a case of a 9-year-old boy with a family history of sarcomeric HCM who was diagnosed with HOCM (hypertrophic obstructive cardiomyopathy) during clinical screening. Echocardiography and cardiovascular magnetic resonance (CMR) imaging revealed asymmetric left ventricular hypertrophy with a maximum wall thickness of 18-19 mm. CMR late gadolinium enhancement imaging showed patchy fibrosis within the area of maximum wall thickness. Genetic testing confirmed the presence of the familial mutation in the MYL2 gene. The patient was started on bisoprolol. Furthermore, risk stratification was performed and a recommendation for ICD implantation was made. Discussion This case demonstrates that significant HCM can already start in childhood and discusses the recommendations for family screening on thebasis of recently published studies and the present ESC guideline.