Noninvasive Multimodality Imaging in ARVD/C

Area of Science:

• Cardiology
• Genetics
• Medical Imaging

Background:

• Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a genetic heart disease characterized by progressive right ventricular dysfunction and malignant ventricular arrhythmias.
• Pathogenic mutations in genes encoding cardiac desmosomes have been identified as a primary cause of ARVD/C.
• Structural changes include ventricular enlargement, impaired contraction, RV aneurysms, and fibrofatty replacement, often in specific ventricular regions.

Purpose of the Study:

• To review the current diagnostic role of key cardiac imaging modalities in suspected ARVD/C.
• To highlight the importance of structural and functional abnormalities in ARVD/C diagnosis.
• To discuss the application of echocardiography, cardiac MRI, and CT in evaluating patients with ARVD/C.

Main Methods:

• Review of current literature on ARVD/C diagnosis.
• Discussion of the established and emerging roles of echocardiography, cardiac magnetic resonance imaging (CMR), and computed tomography (CT).
• Focus on imaging findings indicative of ARVD/C pathology.

Main Results:

• Cardiac imaging reveals characteristic structural and functional abnormalities in ARVD/C.
• Echocardiography, CMR, and CT provide complementary information for diagnosis.
• Imaging findings are crucial for establishing diagnostic criteria for ARVD/C.

Conclusions:

• Advanced cardiac imaging techniques are essential for the diagnosis of ARVD/C.
• Understanding the specific imaging patterns associated with ARVD/C improves diagnostic accuracy.
• Multimodality imaging approaches are key to managing this inherited cardiomyopathy.