Clinical Characteristics and Cardiac Magnetic Resonance Profile of PKP2 Variant–Positive Patients With a Hypertrophic Cardiomyopathy Phenotype

Key Points

• The aim is to investigate the clinical features and cardiac MRI findings of patients with PKP2 variants presenting with hypertrophic cardiomyopathy.
• Participants with PKP2 variants were identified and underwent cardiac MRI assessments.
• Clinical data was collected, including symptoms and family histories.
• Comparative analysis was performed between participants with and without PKP2 variants.
• Patients with PKP2 variants showed distinct patterns on cardiac MRI, with a higher incidence of specific features than those without variants.
• Increased left ventricular wall thickness was observed in 82% of PKP2 variant-positive patients, indicating a strong association with hypertrophic cardiomyopathy.
• Clinical symptoms varied significantly, underlining the importance of genetic testing in management.