Authors
Natália Quintella Sangiorgi Olivetti, Giovana Pereira Belitardo, Felipe Cerqueira Matheus, Deborah Belfort, Luiz Alberto Benvenuti, Luciana Sacilotto, Edimar Bocchi, Giovanna Napolitano, José Eduardo Krieger, Silvia Ayub
Published in
JACC. Case reports. Pages 110385. Sep 23, 2026. Epub Sep 23, 2026.
Abstract
Pathogenic variants in lysosome-associated membrane protein 2 (LAMP2) gene cause X-linked Danon disease, associated with hypertrophic cardiomyopathy. Arrhythmogenic cardiomyopathy is characterized by myocardial fibrofatty replacement and ventricular arrhythmias.
A 30-year-old woman presented with a hypertrophic phenotype and a short PR interval. At 40 years of age, she developed progressive diffuse low QRS complex voltages and recurrent ventricular arrhythmias. Cardiac magnetic resonance showed extensive ring-like late gadolinium enhancement and biventricular systolic dysfunction, consistent with biventricular arrhythmogenic cardiomyopathy. Genetic testing identified a pathogenic LAMP2 variant (LAMP2:c.928G>A; p.Val310Ile) associated with Danon disease. Despite optimized medical therapy, she progressed to advanced heart failure requiring heart transplantation. The explanted heart demonstrated severe fibrofatty myocardial replacement, with thinning of the right ventricular wall and vacuolated cardiomyocyte, which were strongly stained by periodic acid-Schiff.
Danon disease is characterized by myocardial hypertrophy, but not by fibrofatty replacement, which is a hallmark of arrhythmogenic cardiomyopathy. This case demonstrates a rare phenotypic evolution in LAMP2 cardiomyopathy.
PMID:
42776111
Bibliographic data and abstract were imported from PubMed on 23 Sep 2026.
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