Key result
Rare MYH6 and MYH7 deletion linked to pediatric HCM highlights value of genomic evaluation.
Why the study?
Pediatric hypertrophic cardiomyopathy exhibits phenotypic variability driven by incomplete penetrance and variable expressivity, presenting significant challenges in diagnosis and clinical management.
Case Report (n=1)
This case highlights the clinical and genetic heterogeneity of pediatric HCM and the importance of evaluating genomic deletions involving key sarcomeric genes like MYH6 and MYH7.
Answers are grounded in this paper and cite their sources.
Should not yet change HCM genetic testing; hypothesis-generating for deletion screening in pediatric sarcomeric cardiomyopathy.
BACKGROUND/OBJECTIVES: Pediatric hypertrophic cardiomyopathy (HCM) is the most common genetic myocardial disorder in children and a leading cause of sudden cardiac death (SCD) among the young. Its phenotypic variability, driven by incomplete penetrance and variable expressivity, presents significant challenges in diagnosis and clinical management. METHODS: In this study, we report a unique case of a 16-month-old female diagnosed with HCM caused by a rare genetic deletion. Molecular analysis was performed using a multigene panel and chromosomal microarray analysis (CMA). RESULTS: genes. These genes are critical components of sarcomeric architecture, with known associations to HCM and other cardiomyopathies. CONCLUSIONS: This case underscores the clinical and genetic heterogeneity of HCM, highlighting the importance of considering genomic deletions involving key sarcomeric genes in the diagnostic evaluation.
No takes yet. Share an insight, caveat, or question.
Mancuso et al. (2025) conducted a case report in Pediatric hypertrophic cardiomyopathy (HCM) (n=1). Molecular analysis (multigene panel and chromosomal microarray analysis) was evaluated. A 16-month-old female with hypertrophic cardiomyopathy was found to have a rare genetic deletion involving MYH6 and MYH7, highlighting the importance of evaluating genomic deletions in HCM.
Synapse has enriched 10 related papers. Consider them for comparative context: