[Hypertrophic cardiomyopathy with mid-ventricular phenotype and filamin C mutation, an uncommon case report]

Area of Science:

• Cardiology
• Genetics
• Cardiac Surgery

Background:

• Hypertrophic cardiomyopathy (HCM) presents with diverse phenotypes, including left ventricular outflow tract (LVOT) obstruction.
• Asymmetric septal hypertrophy is the most common HCM phenotype; mid-apical variants are rare.
• Specific genetic mutations are linked to HCM, with Filamin C variants being uncommon.

Observation:

• A 23-year-old male presented with hypertrophic cardiomyopathy and a documented Filamin C variant.
• The patient showed inadequate response to medical management for persistent symptoms and LVOT obstruction.

Findings:

• Surgical intervention via a transapical myectomy was performed due to persistent symptoms.
• The transapical approach, distinct from the conventional transaortic method, yielded significant clinical improvement.
• Post-procedure, the patient experienced marked reduction in symptoms and LVOT obstruction.

Implications:

• This case demonstrates a rare Filamin C variant of HCM.
• It highlights the efficacy of a transapical myectomy approach in specific HCM cases.
• The findings suggest alternative surgical strategies for managing complex HCM phenotypes.