Key result
Clinical family screening identifies significant childhood-onset obstructive HCM linked to a MYL2 mutation.
Why the study?
Paediatric hypertrophic cardiomyopathy caused by sarcomere protein gene mutations is more common than previously thought.
Case Report (n=1)
This case demonstrates that significant hypertrophic cardiomyopathy can manifest in early childhood, highlighting the clinical importance of early family screening in affected pedigrees.
May support early family screening in HCM pedigrees; hypothesis-generating for childhood penetrance and management of MYL2 variants.
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 hypertrophic obstructive cardiomyopathy (HOCM) during clinical screening. Echocardiography and cardiovascular magnetic resonance imaging revealed asymmetric left ventricular hypertrophy with a maximum wall thickness of 18–19 mm. Cardiovascular magnetic resonance 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 implantable cardioverter-defibrillator implantation was made. Discussion This case demonstrates that significant HCM can already start in childhood and discusses the recommendations for family screening on the basis of recently published studies and the present European Society of Cardiology guideline.
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Voges et al. (2022) conducted a case report in Hypertrophic obstructive cardiomyopathy (HOCM) (n=1). Family screening was evaluated. Clinical family screening of a 9-year-old boy with a family history of HCM successfully identified significant childhood-onset hypertrophic obstructive cardiomyopathy caused by a MYL2 mutation.
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