![]() Notably, the term ‘idiopathic DCM’ refers to a clinical diagnosis in which all identifiable causes were excluded, and was coined before genetic data became available. 1,4,7–9,11–13 This reflects advances in the differential diagnosis, particularly after the implementation of DNA sequencing technology, mostly high throughput next-generation sequencing. 1,6,8,9 The percentage of the diverse forms of DCM is variable and different estimates have been reported between 20. 1,9–11 Clinical and echocardiographic screening of first-degree relatives indicates that the 30–50% of IDC can be classified as familial DCM (FDC). 4,7–9 Features secondary to thyroid disease, iron overload, exposure to cardiotoxic drugs, chest radiation, inflammatory arthritis, infections (viral, bacterial, parasitic and fungal forms) or including structural heart disease (congenital or valvular) are less frequent causes of nonischemic DCM. 4–7 The remaining cases are usually nonischemic DCM, most of which (50–70%) are idiopathic DCM (IDC) due to an incomplete knowledge about the etiopathogenetic background. 3,4 The most common DCM cause is ischemic heart disease, secondary to coronary artery disease (up to 70% of DCM cases). 2 However, population-based studies suggest that this prevalence may be underestimated. Our study demonstrates an association between familial DCM and the rs1805124 polymorphism in the SCN5A gene, which may unravel additional genetic predisposition to the development of a multifactorial disease as DCM.ĭilated cardiomyopathy (DCM OMIM 115200) is the most common cardiomyopathy worldwide, with a prevalence of 40/100 000, 1 and men are affected more frequently than women. No association was observed between the rs1805124 and DCM risk in postischemic DCM patients. Moreover, logistic regression analysis showed that GG carriers had a higher risk of DCM than AA + AG carriers (odds ratio = 5.45, 95% CI = 2.23–13.35 P < 0.001). Our results showed that the rs1805124 polymorphism was significantly associated with DCM, and the association was more significant in patients with FDC furthermore, in these individuals, the less frequent GG genotype was associated with a 7.39-fold increased risk of disease compared with the AA genotype. ![]() We genotyped 185 DCM cases (familial DCM, idiopathic DCM and postischemic DCM) and 251 controls for the p.H558R polymorphism in the SCN5A gene, to test the association of the molecular epidemiology of the individuals with the presence/absence of various types of DCM. We examined the possible association between a common polymorphism in the SCN5A gene (c.1673A>G-p.H558R rs1805124) and the risk of dilated cardiomyopathy (DCM) occurrence. SCN5A is a disease-causing gene associated with familial dilated cardiomyopathy (FDC). The work cannot be changed in any way or used commercially without permission from the journal. This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. Monaldi, Azienda dei ColliĭDipartimento di Scienze Mediche Traslazionali, Università di Napoli ‘Federico II’Ĭorrespondence to Francesco Salvatore, MD, PhD, CEINGE-Biotecnologie Avanzate, Naples 80145, Italy Tel: +39 0 fax: +39 0 e-mail: ACEINGE-Biotecnologie Avanzate s.c.a r.l.īDipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli ‘Federico II’ĬDipartimento di Scienze Cardiotoraciche e Respiratorie, Università degli Studi della Campania ‘Luigi Vanvitelli’, A.O.
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