Gudkova Alexandra, Kostareva Anna, Sjoberg Gunnar, Smolina Natalia, Turalchuk Marinan, Kuznetsova Irina, Rybakova Margarita, Edstrom Lars, Shlyakhto Eugene, Sejersen Thomas
Almazov Federal Centre for Heart, Blood and Endocrinology, St Petersburg 197341, Russia.
Pediatr Cardiol. 2013 Feb;34(2):467-70. doi: 10.1007/s00246-012-0312-x. Epub 2012 Apr 7.
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.
结蛋白心肌病是导致充血性心力衰竭的罕见病因。其在成年期的临床表现常与传导障碍及神经肌肉表型相关。仅有少数病例被报道，儿童期的早期表现大多是由于严重的心肌病扩张和传导异常。然而，该疾病可导致多种临床表型，包括肥厚型、限制型和致心律失常型心肌病。本报告描述了首例青春期早期表现的结蛋白心肌病病例，以及随着时间推移出现的几种临床表型转变，这对该疾病早期的正确临床诊断和治疗造成了极大困难。
