Case report: Multiple biventricular aneurysms in arrhythmogenic cardiomyopathy

Area of Science:

• Cardiology
• Genetics
• Medical Imaging

Background:

• Arrhythmogenic cardiomyopathy (ACM) is a genetic heart disease causing fibro-fatty myocardial replacement, leading to arrhythmias and sudden cardiac death.
• Diagnosis is challenging due to complex presentations and multiparametric scoring systems.
• Desmoplakin gene mutations are implicated in ACM pathogenesis.

Observation:

• A 57-year-old man with palpitations and premature ventricular contractions (PVCs) presented with syncope and ventricular tachycardia.
• Imaging revealed ventricular aneurysms and mild biventricular dysfunction.
• Genetic analysis identified a likely pathogenic desmoplakin gene mutation (c.7780delT) in the patient and his daughter.

Findings:

• Late gadolinium enhancement on cardiac magnetic resonance (CMR) is a key indicator of myocardial fibrosis in ACM.
• Left ventricular dysfunction, CMR-confirmed fibrosis, and frequent PVCs are sensitive indicators of desmoplakin cardiomyopathy.
• High-frequency ultrasound offers superior resolution for visualizing pathological characteristics in specific ACM regions.

Implications:

• Early identification of desmoplakin mutations and associated cardiac abnormalities is crucial for risk stratification.
• Multimodality imaging, including CMR and high-frequency ultrasound, aids in comprehensive ACM assessment.
• Beta-blocker therapy demonstrated efficacy in managing ventricular arrhythmias during follow-up.