Inaccurate diagnosis of Brugada syndrome in a healthy woman based on SCN5A mutation classification
نویسندگان
چکیده
From the *Mayo Clinic School of Medicine, Department of Pediatric and Adolescent Medicine/Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota, Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota, and xDepartment of Cardiovascular Diseases/Division of Heart Rhythm Services, Mayo Clinic, Rochester, Minnesota.
منابع مشابه
The Relationship Between Gastric Myoelectric Activity and SCN5A Mutation Suggesting Sodium Channelopathy in Patients With Brugada Syndrome and Functional Dyspepsia - A Pilot Study
BACKGROUND/AIMS SCN5A encodes the cardiac-specific Na(V)1.5 sodium channel, and Brugada syndrome is a cardiac conduction disorder associated with sodium channel α-subunit (SCN5A) mutation. The SCN5A-encoded Na(V)1.5 channel is also found on gastrointestinal smooth muscle and interstitial cells of Cajal. We investigated the relationship between functional dyspepsia (FD) and SCN5A mutation to eva...
متن کاملGenetic analysis of Brugada syndrome and congenital long-QT syndrome type 3 in the Chinese
BACKGROUND Brugada syndrome and congenital long-QT syndrome (LQTS) type 3 (LQT3) are 2 inherited conditions of abnormal cardiac excitability characterized clinically by an increased risk of ventricular tachyarrhythmias. SCN5A gene that encodes the cardiac sodium channel α subunit is responsible for the 2 diseases, and more work is needed to improve correlations between SCN5A genotypes and assoc...
متن کاملSCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.
BACKGROUND Brugada syndrome is associated with a high risk of sudden cardiac death and is caused by mutations in the cardiac voltage-gated sodium channel gene. Previously, the R282H-SCN5A mutation in the sodium channel gene was identified in patients with Brugada syndrome. In a family carrying the R282H-SCN5A mutation, an asymptomatic individual had a common H558R-SCN5A polymorphism and the mut...
متن کاملValue of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations.
BACKGROUND The Brugada syndrome is an arrhythmogenic disease caused in part by mutations in the cardiac sodium channel gene, SCN5A. The electrocardiographic pattern characteristic of the syndrome is dynamic and is often absent in affected individuals. Sodium channel blockers are effective in unmasking carriers of the disease. However, the value of the test remains controversial. METHODS AND R...
متن کاملNovel SCN5A mutation (Q55X) associated with age-dependent expression of Brugada syndrome presenting as neurally mediated syncope.
BACKGROUND An association between Brugada syndrome and neurally mediated syncope has been described. Although mutations in SCN5A have been identified in Brugada syndrome, the genetic link between Brugada syndrome and neurally mediated syncope has not been determined. OBJECTIVES The purpose of the study was to clinically and genetically characterize a man with recurrent syncope that originally...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 3 شماره
صفحات -
تاریخ انتشار 2017