A Gain-of-Function TBX5 Mutation Is Associated With Atypical Holt–Oram Syndrome and Paroxysmal Atrial Fibrillation
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چکیده
منابع مشابه
A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation.
Holt-Oram syndrome (HOS) is a heart/hand syndrome clinically characterized by upper limb and cardiac malformations. Mutations in T-box transcription factor 5 (TBX5) underlie this syndrome. Here, we describe a large atypical HOS family in which affected patients have mild skeletal deformations and paroxysmal atrial fibrillation, but few have congenital heart disease. Sequencing of TBX5 revealed ...
متن کاملA novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation.
AIMS Atrial fibrillation (AF) is the most common cardiac arrhythmia, and early-onset lone AF has been linked to mutations in genes encoding ion channels. Mutations in the pore forming subunit KV4.3 leading to an increase in the transient outward potassium current (Ito) have previously been associated with the Brugada Syndrome. Here we aim to determine if mutations in KV4.3 or in the auxiliary s...
متن کاملA novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation.
OBJECTIVES This study describes a novel heterozygous gain-of-function mutation in the cardiac sodium (Na+) channel gene, SCN5A, identified in a Japanese family with lone atrial fibrillation (AF). BACKGROUND SCN5A mutations have been associated with a variety of inherited arrhythmias, but the gain-of-function type modulation in SCN5A is associated with only 1 phenotype, long-QT syndrome type 3...
متن کاملDisturbed Left Atrial Function is Associated with Paroxysmal Atrial Fibrillation in Hypertension
BACKGROUND Hypertension is the most prevalent and modifiable risk factor for atrial fibrillation. The pressure overload in the left atrium induces pathophysiological changes leading to alterations in contractile function and electrical properties. OBJECTIVE In this study our aim was to assess left atrial function in hypertensive patients to determine the association between left atrial functi...
متن کاملS4153R is a gain-of-function mutation in the cardiac Ca(2+) release channel ryanodine receptor associated with catecholaminergic polymorphic ventricular tachycardia and paroxysmal atrial fibrillation.
Mutations in ryanodine receptor 2 (RYR2) gene can cause catecholaminergic polymorphic ventricular tachycardia (CPVT). The novel RYR2-S4153R mutation has been implicated as a cause of CPVT and atrial fibrillation. The mutation has been functionally characterized via store-overload-induced Ca(2+) release (SOICR) and tritium-labelled ryanodine ([(3)H]ryanodine) binding assays. The S4153R mutation ...
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ژورنال
عنوان ژورنال: Circulation Research
سال: 2008
ISSN: 0009-7330,1524-4571
DOI: 10.1161/circresaha.107.168294