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.
Clinical and Genetic Heterogeneity of HCM: The Possible Role of a Deletion Involving MYH6 and MYH7
Mancuso, Giancarlo;Marsan, Marina
;Soddu, Consolata;Lai, Francesco;Serventi, Laura;Cau, Milena;Coiana, Alessandra;Incani, Federica;Savasta, Salvatore
2025-01-01
Abstract
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.File | Dimensione | Formato | |
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2025 genes-16-00212-v2.pdf
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