RBM20 mutations in left ventricular non‐compaction cardiomyopathy
نویسندگان
چکیده
منابع مشابه
Nexilin mutations are associated with left ventricular noncompaction cardiomyopathy
s of the 51st Workshop for Pediatric Research 51st Workshop for Pediatric Research Göttingen, Germany 16-17 April 2015 This supplement has not been sponsored. Meeting abstracts Introduction Left Ventricular Noncompaction Cardiomyopathy (LVNC) is a very rare congenital heart disease. LVNC is a form of cardiomyopathy in which the fetal myocardium fails to "compact" during cardiac development and ...
متن کاملLeft Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy?
Left ventricular noncompaction (LVNC) describes a ventricular wall anatomy characterized by prominent left ventricular (LV) trabeculae, a thin compacted layer, and deep intertrabecular recesses. Individual variability is extreme, and trabeculae represent a sort of individual "cardioprinting." By itself, the diagnosis of LVNC does not coincide with that of a "cardiomyopathy" because it can be ob...
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BACKGROUND Left ventricular noncompaction of the myocardium (LVNC) has been recognized as a cardiomyopathy with a genetic etiology. Mutations in genes encoding sarcomere proteins were shown to be associated with LVNC. We evaluated the potential clinical impact of genetic analysis of sarcomere genes in patients with LVNC. METHODS AND RESULTS We identified 5 mutations in cardiac myosin-binding ...
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Isolated left ventricular noncompaction cardiomyopathy (IVNC) is a cardiomyopathy thought to be caused by arrest of normal embryogenesis of the endocardium and myocardium. This abnormality is often associated with other congenital cardiac defects. A 21-year-old man presented to the emergency department with worsening exertional dyspnea during the previous 2 months. Two-dimensional and Doppler e...
متن کاملIsolated Left Ventricular Noncompaction Cardiomyopathy diagnosed by Transesophageal Echocardiography
Isolated noncompaction of the ventricular myocardium has often been misdiagnosed as other cardiomyopathies because it is a relatively recently described cardiomyopathy with literature limited to case reports and case series and little awareness among physicians. We are reporting a case of isolated left ventricular noncompaction cardiomyopathy that was misdiagnosed for over two decades.
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ژورنال
عنوان ژورنال: PEDIATRIC INVESTIGATION
سال: 2020
ISSN: 2574-2272,2574-2272
DOI: 10.1002/ped4.12184