ArticleEuropean heart journal. Case reports2022
Family screening of hypertrophic cardiomyopathy in children: a case report.
Article in European heart journal. Case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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 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 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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