Article
Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.
Pediatric cardiology - 1 Feb 2013
Gudkova Alexandra, Kostareva Anna, Sjoberg Gunnar, Smolina Natalia, Turalchuk Marinan, Kuznetsova Irina, Rybakova Margarita, Edstrom Lars, Shlyakhto Eugene, Sejersen Thomas
Abstract excerpt
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...
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