منابع مشابه
Infiltrative Cardiomyopathies
Infiltrative cardiomyopathies can result from a wide spectrum of both inherited and acquired conditions with varying systemic manifestations. They portend an adverse prognosis, with only a few exceptions (ie, glycogen storage disease), where early diagnosis can result in potentially curative treatment. The extent of cardiac abnormalities varies based on the degree of infiltration and results in...
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An increasing number of genetic tests for cardiomyopathies are becoming available for clinical use. This commentary will give a short overview of indications and challenges concerning genetic testing for these conditions.
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Despite the striking advances in medical and surgical therapy, the morbidity, mortality, and economic burden of heart failure (HF) remain unacceptably high. There is increasing evidence that the risk and course of HF depend on genetic predisposition; however, the genetic contribution to HF is heterogeneous and complex. At one end of the spectrum are the familial monogenic HF syndromes in which ...
متن کاملGenetic spectrum of cardiomyopathies with neuromuscular phenotype.
Neuromuscular disorders are known to be associated with cardiac disease but often the cardiovascular symptoms can be difficult to unravel due to low physical activity in this patient group and thereby low strain on the heart. On the other hand, cardiomyopathy or cardiac arrhythmogenic disease may be the first sign of an underlying neuromuscular disorder. Indeed, of the more than 40 genes that h...
متن کاملGenetic predisposition to respiratory diseases: infiltrative lung diseases.
The availability of high-throughput genotyping and large collaborative clinical networks creating well-characterized patient populations with DNA repositories has facilitated genome-wide scans and candidate gene studies to identify susceptibility alleles for the development of interstitial lung disease. The association of pulmonary fibrosis with rare inherited disorders, and the variable suscep...
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ژورنال
عنوان ژورنال: Heart Failure Clinics
سال: 2018
ISSN: 1551-7136
DOI: 10.1016/j.hfc.2017.12.003