Role of Genetic Factors in Dilated Cardiomyopathy
ثبت نشده
چکیده
Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by cardiac chamber enlargement and impaired systolic (and almost always diastolic) function. It is usually associated with heart failure, arrhythmias and/or conduction system disease and thromboembolic disease but may also be asymptomatic. DCM is diagnosed in the presence of left ventricular enlargement and systolic dysfunction (left ventricular ejection fraction less than 50% or fractional shortening of less than 25-30%). It is considered one of the most common causes of heart failure, resulting in considerable morbidity and mortality. Patients with DCM suffer from heart failure, arrhythmia and are at risk of premature death. The prevalence of dilated cardiomyopathy is one case out of 2500 patients with an incidence of 7/100 000/year and it is 3 times more frequent in blacks and males than whites and females (Bender et al., 2011, Hershberger et al., 2007, Taylor et al., 2006). DCM may appear sporadic in a single member of family and is called then idiopathic DCM (IDC). Dilated cardiomyopathy may be also inherited and is termed familial DCM (FDC), contributing for 20-48 % of DCM. According to Mestroni et al. (1999), the diagnosis of FDC is made in the presence of two or more affected individuals in a single family or in the presence of a first-degree relative of a dilated cardiomyopathy patient with well documented unexplained sudden death at < 35 years of age. The principle causes of FDC are genetic mutations affecting cardiac myocytes (Taylor et al., 2006). Knowledge about genes involved in development of dilated cardiomyopathy can be used to create genetic tests for assessing the risk of DCM. As DCM is a multigenic disorder, there are many genes contributing to development of this disease. More than 30 genes, coding a variety of proteins such as nuclear envelope proteins, cardiac sarcomere units, ion channels, transcription factors, or dystrophin-associated cytoskeletal complex, were identified as causes of dilated cardiomyopathy (Hershberger et al., 2009a). Some of these genes (discussed in this chapter) are presented in Table 1. For additional information see Hershberger et al. (2010) and UpToDate® website.
منابع مشابه
The value of myocardial perfusion imaging in differentiating between idiopathic dilated cardiomyopathy from the ischemic form [Persian]
Introduction: Differentiating between ischemic cardiomyopathy (ICM) and idiopathic dilated cardiomyopathy (IDCM) is important as coronary revascularization can improve prognosis in the ischemic subgroup. Due to inherent problems of coronary angiography in patients with depressed ejection fraction (EF) introducing a noninvasive tool to diagnose those who will benefit from angiography seems...
متن کاملComparison between Brain Natriuretic Peptide and Calcitonin Gene Related Peptide in Children with Dilated Cardiomyopathy
Background: Dilated cardiomyopathy (DCM) is revealed with the left ventricular dilatation and systolic dysfunction. This study was performed to determine the level of Calcitonin Gene Related Peptide (CGRP) and Brain Natriuretic Peptide (BNP) in children with dilated cardiomyopathy and controls and comparison of these two biomarkers in patients. Materials and Methods: This case-control study was...
متن کاملComparative assessment of N-terminal pro-B-type natriuretic peptide, nitric oxide and echocardiography for diagnosis of dilated cardiomyopathy in dogs
The aim of the study was to evaluate the clinical usefulness of N-terminal pro-brain natriuretic peptide (NT-Pro BNP) and nitric oxide (NO) with echocardiography (gold standard test) in diagnosis of canine cardiomyopathy. Out of 374 cases, 82 cases showing cardiovascular abnormalities including 16 cases of cardiomyopathy were further selected for standardization of biomarkers. Significant (P
متن کاملA predictive model for canine dilated cardiomyopathy—a meta-analysis of Doberman Pinscher data
Dilated cardiomyopathy is a prevalent and often fatal disease in humans and dogs. Indeed dilated cardiomyopathy is the third most common form of cardiac disease in humans, reported to affect approximately 36 individuals per 100,000 individuals. In dogs, dilated cardiomyopathy is the second most common cardiac disease and is most prevalent in the Irish Wolfhound, Doberman Pinscher and Newfoundla...
متن کاملSimpson, Siobhan and Edwards, Jennifer and Emes, Richard D. and Cobb, Malcolm A. and Mongan, Nigel P. and Rutland, Catrin S. (2015) A predictive model for canine dilated cardiomyopathy: a meta-analysis of Doberman Pinscher
Dilated cardiomyopathy is a prevalent and often fatal disease in humans and dogs. Indeed dilated cardiomyopathy is the third most common form of cardiac disease in humans, reported to affect approximately 36 individuals per 100,000 individuals. In dogs, dilated cardiomyopathy is the second most common cardiac disease and is most prevalent in the Irish Wolfhound, Doberman Pinscher and Newfoundla...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2012