HCN4 Mutations in Multiple Families With Bradycardia and Left Ventricular Noncompaction 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...
متن کاملSick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction.
BACKGROUND Familial sick sinus syndrome (SSS) is often attributable to mutations in genes encoding the cardiac Na channel SCN5A and pacemaker channel HCN4. We previously found that SSS with SCN5A mutations shows early onset of manifestations and male predominance. Despite recent reports on the complications of atrial fibrillation (AF) and left ventricular noncompaction (LVNC) in patients with S...
متن کاملFamilial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.
LMNA mutations have been associated with familial or sporadic dilated cardiomyopathy (DC), with or without conduction system disease. We studied the LMNA gene in 67 consecutive patients with DC (18 had familial DC, 17 had possible familial DC, and 32 sporadic DC). From genomic DNA, coding regions of the LMNA gene were amplified by polymerase chain reaction, studied by single-strand conformation...
متن کاملNoncompaction cardiomyopathy is frequently associated with myopathy (left ventricular noncompaction with hypothyroidism and sensorineural hearing loss).
Ventricular myocardial “noncompaction” (MN), which is also called honeycomb or spongy myocardium, is a rare type of cardiomyopathy characterized by a hypertrophic left ventricle with deep trabeculations and poor systolic function, with or without associated left ventricle dilatation (1-3). It has been thought that the basic morphogenetic abnormality may be the arrest of normal compaction of the...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of the American College of Cardiology
سال: 2014
ISSN: 0735-1097
DOI: 10.1016/j.jacc.2014.05.045