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Article

A case of Carvajal syndrome presenting with dilated cardiomyopathy.

Cardiology in the young - 1 May 2024

Arıcı Sule, Akalın Figen, Geckinli Bilgen Bilge

Abstract excerpt

OBJECTIVES: Carvajal syndrome is a very rare autosomal recessive cardiocutaneous disorder caused by a desmosomal mutation in exon 24 of the desmoplakin gene. It manifests with woolly hair, epidermolytic palmoplantar keratoderma, and arrhythmogenic right ventricular cardiomyopathy. We herein present a patient with heart failure and dilated cardiomyopathy who was diagnosed with Carvajal syndrome because of...

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Identifiers

PMID: 38433550
DOI: 10.1017/S1047951124000222

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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