G.P.24

• Published in: Neuromuscular disorders : NMD Vol. 24; no. 9; p. 801
• Main Authors: Batu, E, Pehlivanturk, M, Haliloglu, G, Utine, E, Tekerek, N. Ulgen, Eroglu, F. Kara, Ertugrul, I, Hizal, G, Boduroglu, K, Topaloglu, H, Coskun, T, Ozen, H, Kale, G, Alehan, D
• Format: Journal Article
• Language: English
• Published: 01-10-2014
• Subjects: Neurology
• ISSN: 0960-8966
• DOI: 10.1016/j.nmd.2014.06.038

Cardiomyopathy (CMP) in childhood is an etiologically heterogeneous group of cardiac disease, including many genetic, metabolic, neuromuscular and environmental causes. The goal of this study is to determine the underlying causes and clinical characteristics of children presenting with CMP to a tertiary medical center in Turkey. We analyzed the data of 109 patients retrospectively, who presented with CMP as an initial feature, and without a specific diagnosis, between May 2007 and May 2012. Patients who already developed CMP during the course of a diagnosed disease were excluded from the study. Among 109 patients, 57 were male, and 52 were female. Most of the patients were symptomatic ( n = 59) in the first year of life (54.1%). The patients were subdivided into three groups, as dilated CMP ( n = 69, 63.3%), hypertrophic CMP ( n = 32, 9.4%), and restrictive CMP ( n = 8, 7.3%). The etiology remained unknown in 68.8% of all cases. Inborn errors of metabolism ( n = 16) and cardiac diseases ( n = 10) comprised the main etiological diagnosis, while dysmorphic syndromes ( n = 4), immunological diseases ( n = 2), neuromuscular diseases ( n = 2) were responsible from minority of cases. Cardiac transplantation was possible for 4.6% of patients ( n = 5), whereas 29.4% of all patients died during a median of 13-month follow-up. In the era of advanced molecular genetic testing, approach to CMP in childhood is still challenging, and 57–68% patients remain idiopathic. The reported success rate of finding an etiology of CMP is around 30% in literature, and 31.2% in this group. This study highlights the importance of detailed clinical evaluation as a first-step.