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Danon Disease Manifesting as Arrhythmogenic Right Ventricular Cardiomyopathy: A Case Report

Year: 2025

Type: article

Abstract: Danon disease is a rare X-linked genetic disorder, manifesting as cardiac hypertrophy, myopathy, and intellectual disability. We report a rare case of arrhythmogenic right ventricular cardiomyopathy (ARVC) in a 28-year-old female with Danon disease. An electrocardiogram (ECG) showed sinus bradycardia and first-degree atrioventricular block; echocardiography revealed a right atrial thrombus, and computed tomography (CT) scan displayed an enlarged right ventricular outflow tract and right atrial thrombosis. Genetic testing identified a novel Lysosomal Associated Membrane Protein 2 (LAMP2) gene variant, confirming the diagnosis of Danon disease. The patient was administered anticoagulants and heart failure medications. This case underscores the importance of considering family history and genetic testing in diagnosing Danon disease with ARVC. This expands the disease's phenotypic spectrum beyond its conventional cardiac manifestations.

Source: The Heart Surgery Forum

DOI: 10.59958/hsf.8125

Authors: Di Shen, Jing Yang, Guowei Tu, Yuanhua Xu, Gang Pan

Institutions: Westlake University, Affiliated Hangzhou First People's Hospital, Westlake University, School of Medicine, Fudan University, Zhongshan Hospital

Language: English

Topic: Cardiovascular Effects of Exercise

Subfield: Cardiology and Cardiovascular Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4409620227

FWCI: 0.649

Cites:

Cited by: 1

Related to: 10