title: Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.
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.
authors.affiliation: Almazov Federal Centre for Heart, Blood and Endocrinology, St Petersburg 197341, Russia.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Gudkova
authors.forename: Anna
authors.initials: A
authors.lastname: Kostareva
authors.forename: Gunnar
authors.initials: G
authors.lastname: Sjoberg
authors.forename: Natalia
authors.initials: N
authors.lastname: Smolina
authors.forename: Marinan
authors.initials: M
authors.lastname: Turalchuk
authors.forename: Irina
authors.initials: I
authors.lastname: Kuznetsova
authors.forename: Margarita
authors.initials: M
authors.lastname: Rybakova
authors.forename: Lars
authors.initials: L
authors.lastname: Edstrom
authors.forename: Eugene
authors.initials: E
authors.lastname: Shlyakhto
authors.forename: Thomas
authors.initials: T
authors.lastname: Sejersen
mesh_terms: D000293:Adolescent; D001706:Biopsy; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D003893:Desmin / Q000235:genetics* / Q000378:metabolism; D003937:Diagnosis, Differential; D004576:Electromyography; D006801:Humans; D019028:Magnetic Resonance Imaging, Cine / Q000379:methods; D008297:Male; D009154:Mutation; D009206:Myocardium / Q000473:pathology*; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: D003893:Desmin; D004247:DNA