Key result
Pathogenic MYBPC3 mutation linked to severe childhood obstructive HCM via abnormal papillary muscle insertion.
Highlights the importance of careful subvalvular assessment for surgical planning in pediatric patients with MYBPC3 mutations progressing to severe obstructive HCM.
A child with a pathogenic MYBPC3 gene mutation progressed from normal to severe obstructive hypertrophic cardiomyopathy with dynamic outflow obstruction from septal hypertrophy and abnormal papillary muscle insertion, highlighting careful subvalvular assessment for surgical planning.
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Panatpur et al. (2026) studied this question. A pathogenic MYBPC3 gene mutation in a child caused progression to severe obstructive hypertrophic cardiomyopathy with dynamic outflow obstruction from abnormal papillary muscle insertion.
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