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( Gallo G , MastromarinoV, LimongelliG, CalcagniG, MaruottiA, RagniL, ValenteF, MusumeciMB, AdorisioR, RubinoM, AutoreC, MagrìD. Insights from cardiopulmonary exercise testing in pediatric patients with hypertrophic cardiomyopathy. Biomolecules2021;11:376.33801562)
Gallo G , MastromarinoV, LimongelliG, CalcagniG, MaruottiA, RagniL, ValenteF, MusumeciMB, AdorisioR, RubinoM, AutoreC, MagrìD. Insights from cardiopulmonary exercise testing in pediatric patients with hypertrophic cardiomyopathy. Biomolecules2021;11:376.33801562Gallo G , MastromarinoV, LimongelliG, CalcagniG, MaruottiA, RagniL, ValenteF, MusumeciMB, AdorisioR, RubinoM, AutoreC, MagrìD. Insights from cardiopulmonary exercise testing in pediatric patients with hypertrophic cardiomyopathy. Biomolecules2021;11:376.33801562, Gallo G , MastromarinoV, LimongelliG, CalcagniG, MaruottiA, RagniL, ValenteF, MusumeciMB, AdorisioR, RubinoM, AutoreC, MagrìD. Insights from cardiopulmonary exercise testing in pediatric patients with hypertrophic cardiomyopathy. Biomolecules2021;11:376.33801562
- Publisher
- Oxford University Press
- Copyright
- © The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology.
- eISSN
- 2514-2119
- DOI
- 10.1093/ehjcr/ytac360
- Publisher site
- See Article on Publisher Site
Abstract
BackgroundPaediatric 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 summaryWe 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.DiscussionThis 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.
Journal
European Heart Journal - Case Reports – Oxford University Press
Published: Sep 3, 2022
Keywords: Hypertrophic cardiomyopathy; Sarcomeric protein mutations; Childhood-onset inherited disease; Case report