Clinical and Genetic Heterogeneity of HCM: The Possible Role of a Deletion Involving MYH6 and MYH7.

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

Molecular tests identified a 30 kb deletion encompassing the MYH6 and MYH7 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.