Identification by Whole Genome Sequencing of a New Gene Causing Hereditary Sinus Node and Atrioventricular Conduction Dysfunction
نویسندگان
چکیده
منابع مشابه
A Mutation in the G-Protein Gene GNB2 Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction.
RATIONALE Familial sinus node and atrioventricular conduction dysfunction is a rare disorder that leads to paroxysmal dizziness, fatigue, and syncope because of a temporarily or permanently reduced heart rate. To date, only a few genes for familial sinus and atrioventricular conduction dysfunction are known, and the majority of cases remain pathogenically unresolved. OBJECTIVE We aim to ident...
متن کاملElectrocardiographic manifestations of dual atrioventricular node conduction during sinus rhythm.
OBJECTIVES The objective of this study was to correlate electrocardiographic (ECG) PR interval changes during normal sinus rhythm with recent observations regarding the anatomy and physiology of the dual, slow and fast atrioventricular (AV) pathways. BACKGROUND The least common manifestation of dual AV conduction is an abrupt PR interval change in the setting of sinus rhythm. Whereas isolated...
متن کاملAssociation of sinus node dysfunction, atrioventricular node conduction abnormality and ventricular arrhythmia in patients with Kawasaki disease and coronary involvement.
BACKGROUND This study was performed to investigate the incidence of arrhythmias in patients with Kawasaki disease (KD). METHODS AND RESULTS Electrophysiologic studies (EPS) were performed in 40 patients (mean age: 10.3+/-5.1 years; 30 males, 10 females) with KD who had severe to moderate coronary artery disease. Clinical arrhythmias were documented in 4 patients (premature ventricular contrac...
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Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. We identified a new variation in SERAC1 as the cause of 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L), MEGDEL syndrome using WES. We found an insertion, rs797045105 (chr6, 158571484, C>CCATG), in the SERAC1 gene with homozygous genotype in ...
متن کاملPreoperative secundum atrial septal defect with coexisting sinus node and atrioventricular node dysfunction.
Sinus node dysfunction in patients after repair of the secundum atrial septal defect has been ascribed to surgical damage. We studied 15 consecutive patients with secundum atrial septal defect before operative intervention. Noninvasive testing included 34-hour electrocardiographic monitoring and a standard 13-lead ECG. Intracardiac electrophysiologic techniques included corrected sinus node rec...
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ژورنال
عنوان ژورنال: Archives of Cardiovascular Diseases Supplements
سال: 2020
ISSN: 1878-6480
DOI: 10.1016/j.acvdsp.2020.03.152