期刊
PEDIATRIC CARDIOLOGY
卷 34, 期 2, 页码 467-470出版社
SPRINGER
DOI: 10.1007/s00246-012-0312-x
关键词
Cardiomyopathy; Desmin; Myocarditis; Pericarditis
资金
- Swedish Heart-Lung Foundation
- StiftelsenFrimurareBarnhuset
- King Gustav V and Queen Victoria Foundation
- SallskapetBarnavard
- StiftelsenSamariten
- Ronald MacDonald Child Fund
- SunnerdahlsHandikappfond
- Swedish Research Council
- United Mitochondrial Disease Foundation
- Russian federal program Scientific and Educational Recourses of a Russian Innovation
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 dilationand conduction abnormalities. However, the disease can result in the variety of clinical phenotypes, including hypertrophic, restrictive, and arrthythmogenic 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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