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Desmin-related cardiomyopathy in a young woman presented with an infra-Hisian atrioventricular block

Published online by Cambridge University Press:  04 December 2024

Margarida Cabral Open the ORCID record for Margarida Cabral [Opens in a new window] ,
Catarina Ruivo  and
Hélia Martins
Margarida Cabral*
Affiliation:
Department of Cardiology, Leiria Local Health Unit, Leiria, Portugal
Catarina Ruivo
Affiliation:
Department of Cardiology, Leiria Local Health Unit, Leiria, Portugal
Hélia Martins
Affiliation:
Department of Cardiology, Leiria Local Health Unit, Leiria, Portugal
*
Corresponding author: Margarida Cabral; Email: [email protected]
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Abstract

A 17-year-old woman was admitted due to a complete atrioventricular block. Comprehensive analytic and imaging studies were conducted to determine the aetiology. Cardiac magnetic ressonance imaging revealed concentric hypertrophy of the left ventricle and diffuse intramural late enhancement gadolinium. Genetic testing identified a heterozygous pathogenic variant in the desmin gene. To manage atrioventricular block, a dual-chamber pacemaker was implanted. During follow-up, no spontaneous ventricular activity was detected.

Keywords

desmincardiomyopathyleft ventricular hypertrophyatrioventricular block
Type
Brief Report
Information
Cardiology in the Young , Volume 34 , Issue 12 , December 2024 , pp. 2688 - 2690
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Copyright
© The Author(s), 2024. Published by Cambridge University Press

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