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Case Reports
. 2013 Feb;34(2):467-70.
doi: 10.1007/s00246-012-0312-x. Epub 2012 Apr 7.

Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes

Alexandra Gudkova  1 , Anna Kostareva, Gunnar Sjoberg, Natalia Smolina, Marinan Turalchuk, Irina Kuznetsova, Margarita Rybakova, Lars Edstrom, Eugene Shlyakhto, Thomas Sejersen
Affiliations
Case Reports

Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes

Alexandra Gudkova et al. Pediatr Cardiol. 2013 Feb.

Abstract

Desmin cardiomyopathy is a rare cause of congestive heart failure. Its clinical manifestation in adulthood often is associated with conduction disorders and a neuromuscular phenotype. Only a few cases have been reported, with early manifestation in childhood mostly due to severe cardiomyopathy dilation and conduction abnormalities. However, the disease can result in the variety of clinical phenotypes, including hypertrophic, restrictive, and arrhythmogenic cardiomyopathy. This report describes the first case of desmin cardiomyopathy with early manifestation in adolescence and transformation of several clinical phenotypes over time, representing sufficient difficulties for the correct clinical diagnosis and treatment of the disease at an early stage.

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