HCN4 mutation in bradycardia – non compaction cardiomyopathy association: a new potentially lethal clinical entity.
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چکیده
منابع مشابه
Right Ventricular Non-Compaction Cardiomyopathy in Children: Brief Review Literature
Right ventricular non-compaction cardiomyopathy (RVNC) is a genetic heterogeneous cardiomyopathy. Despite the increasing number of RVNC cases, the classification and natural history of this disorder are not completely clear. Also, because the pathogenic non-compaction cannot be easily differentiated from normal trabeculations, it is usually hard to accurately measure the prevalence of RV ...
متن کاملBiventricular Non-Compaction Cardiomyopathy.
Left ventricular non-compaction (spongy myocardium) is one of the most misclassified cardiomyopathies. It is characterised by an excessively prominent trabecular meshwork of myocardium and deep intertrabecular myocardium due to an arrest in the compaction process of the myocardial fibres. It could be isolated i.e. without any other structural heart defects or associated with congenital heart de...
متن کاملVentricular non-compaction cardiomyopathy.
Non-compaction of the left ventricle is an extremely rare cardiomyopathy resulting from a defective morphogenesis of the endomyocardium. It results in an architecturally aberrant ventricular wall consisting of two layers: a compacted layer and a loose interwoven meshwork with prominent trabeculae and deep intertrabecular recesses that communicate with the left ventricular cavity. This report de...
متن کاملIsolated non-compaction cardiomyopathy.
BACKGROUND Isolated non-compaction cardiomyopathy (NCCM) was first described in 1984. This disorder, a primary genetic cardiomyopathy, is now attracting increased attention. METHOD The current state of the epidemiology, pathogenesis, pathophysiology, clinical features, diagnosis, treatment, and prognosis of NCCM are discussed on the basis of a review of selected literature as well as the auth...
متن کاملThe HCN4 channel mutation D553N associated with bradycardia has a C-linker mediated gating defect.
BACKGROUND/AIMS The D553N mutation located in the C-linker of the cardiac pacemaker channel HCN4 is thought to cause sino-atrial dysfunction via a pronounced dominant-negative trafficking defect. Since HCN4 mutations usually have a minor defect in channel gating, it was our aim to further characterize the disease causing mechanism of D553N. METHODS Fluorescence microscopy, FACS, TEVC and patc...
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ژورنال
عنوان ژورنال: Archives of Cardiovascular Diseases Supplements
سال: 2016
ISSN: 1878-6480
DOI: 10.1016/s1878-6480(16)30568-7