AI Article Synopsis
- - Desmin cardiomyopathy is a rare form of heart failure that often presents with conduction issues and symptoms related to muscle disorders, mainly observed in adults.
- - While most cases appear in childhood with severe heart dilation and electrical conduction problems, the disease can have multiple forms, such as hypertrophic and restrictive cardiomyopathy.
- - This report details the first case of desmin cardiomyopathy emerging in adolescence, showcasing evolving clinical symptoms over time, which complicates early diagnosis and treatment.
Article 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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| http://dx.doi.org/10.1007/s00246-012-0312-x | DOI Listing |
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