Hypertrophic Cardiomyopathy Mimicking a Primary Cardiac Tumor: Case Report and Review of Molecular Genetic Findings

Area of Science:

• Cardiology
• Genetics
• Pathology

Background:

• Sudden cardiac death (SCD) is a significant risk in hypertrophic cardiomyopathy (HCM), particularly in young, asymptomatic individuals.
• Common genetic causes of HCM include mutations in MYBPC3 and MYH7 genes.
• The ALPK3 gene is implicated in HCM, often associated with late-onset disease or pediatric cases with distinct deformities.

Purpose of the Study:

• To report a unique case of SCD in a young, asymptomatic patient with hypertrophic cardiomyopathy.
• To investigate the role of a specific ALPK3 gene mutation in this case.
• To describe novel gross pathological findings associated with ALPK3-related HCM.

Main Methods:

• Case report and clinical data review.
• Genetic sequencing to identify mutations.
• Gross pathological examination of cardiac tissue.

Main Results:

• The patient experienced SCD due to HCM.
• A specific ALPK3 gene mutation was identified.
• Unusual gross pathological features of the heart were observed, not previously documented in literature.

Conclusions:

• This case expands the understanding of ALPK3 gene mutations in HCM and SCD.
• It highlights the potential for severe cardiac events even in the absence of typical symptoms or deformities.
• The findings underscore the importance of genetic testing and detailed pathological analysis in HCM cases.