Sex‐Dependent Phenotypic Variability of an SCN5A Mutation: Brugada Syndrome and Sick Sinus Syndrome
نویسندگان
چکیده
منابع مشابه
A Double SCN5A Mutation Underlying Asymptomatic Brugada Syndrome
Objective/Background: Patients with the Brugada syndrome who experience syncope or aborted sudden death are at high risk for recurrent lethal arrhythmias. However, the prognosis and the therapeutic approaches in asymptomatic individuals with a Brugada-type ECG (asymptomatic Brugada syndrome) are controversial. Methods/ Results: We genetically screened 30 asymptomatic probands (male 29, female 1...
متن کاملCardiac conduction defects and Brugada syndrome: A family with overlap syndrome carrying a nonsense SCN5A mutation☆
BACKGROUND Phenotypes often differ even within family members carrying the same SCN5A mutation. We aimed to evaluate the genetic modifiers in a family with Brugada syndrome (BrS) and sick sinus syndrome (SSS) with an SCN5A mutation that causes the truncated alpha-subunit of cardiac Na channel protein. METHODS To detect the genetic modifiers, we performed targeted panel sequencing of the codin...
متن کاملPrevalence of the Brugada-type electrocardiogram and incidence of Brugada syndrome in patients with sick sinus syndrome.
BACKGROUND In the present study, clarification of the prevalence of the Brugada-type electrocardiogram (ECG) and the incidence of spontaneous ventricular fibrillation (VF) that occurred with the Brugada-type ECG in patients with sick sinus syndrome (SSS) was determined. METHODS AND RESULTS A total of 487 consecutive patients (men 45%, mean age 69.9+/-12.3 years), who were defined as having an...
متن کاملThe sick sinus syndrome.
1. a. SSS b. SA block c. SA arrest Sick sinus syndrome is a disorder characterized by a dysfunctional sinus node. It is often idiopathic and a result of degenerative fibrosis of nodal tissue. Certain disorders such as amyloidosis, connective tissue disease, Chagas disease, and hemochromatosis are examples of intrinsic causes. Hypertensive heart disease and cardiomyopathies account for a smaller...
متن کاملIatrogenic sick sinus syndrome.
A 50-year-old university professor originally from South America had a 3-day history of paroxysmal attacks of rapid palpitations accompanied by near syncope and followed by transient flushing of her head and neck. She had a history of rheumatic mitral valve stenosis due to rheumatic fever at age 15, for which successful mitral commissurotomy was performed at age 36. Subsequently, recurrent atta...
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ژورنال
عنوان ژورنال: Journal of the American Heart Association
سال: 2018
ISSN: 2047-9980
DOI: 10.1161/jaha.118.009387