Brugada Syndrome Disease Phenotype Explained in Apparently Benign Sodium Channel Mutations Running title: Hoshi et al.; Atypical Mutations in Brugada Syndrome
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چکیده
a and d d Vascular R Researc rc ch h h Ce Ce Cent n er, D Depa p partme m ment o of f Me ed di d ci i in ne, Me M M troH oH Hea a alt lt lth h h Ca a amp mp mpu u us, , , 2 2 2 D Dep p par Phy hy hysi si siology & Bio o ophy ys s sics, C C Case W W We e est tern R Rese erv ve U U Uni ni nive ver rsit t ty y, Cle ev v vela a an n nd, Abstract: Background-Brugada syndrome (BrS) is an arrhythmogenic disorder that has been linked to
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Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.
BACKGROUND Brugada syndrome (BrS) is an arrhythmogenic disorder that has been linked to mutations in SCN5A, the gene encoding for the pore-forming α-subunit of the cardiac sodium channel. Typically, BrS mutations in SCN5A result in a reduction of sodium current with some mutations even exhibiting a dominant-negative effect on wild-type (WT) channels, thus leading to an even more prominent decre...
متن کاملMissense Mutations in Plakophilin-2 Cause Sodium Current Deficit and Associate with a Brugada Syndrome Phenotype Running title: Cerrone et al.; PKP2 Mutations in Brugada Syndrome
Leon H Charney Division of Cardiology; Cardiovascular Genetics Program; Dept of Pharmacology, NYU School of Medicine, New York, NY; Molecular Cardiology, Maugeri Foundation; Pavia, Italy; Del E. Webb Center for Neuroscience, Aging & Stem Cell Research, Sanford-Burnham Medical Research Institute, La Jolla, CA; Dept of Bioscience and Biotechnology, Sejong University, Seoul, Korea; Division of Car...
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mogenic marker for the sudden unexplained death syndrome in Thai men. Circulation 1997; 96: 2595–2600. [7] Priori SG, Napolitano C, Glordano U et al. Brugada syndrome and sudden cardiac death in children. Lancet 2000; 355: 808–9. [8] Corrado D, Buja G, Basso C et al. What is the Brugada syndrome? Cardiol Rev 1999; 7: 191–5. [9] Brugada R, Brugada J, Antzelevitch C et al. Sodium channel blockers...
متن کاملStructural heart disease, SCN5A gene mutations, and Brugada syndrome: a complex ménage à trois.
The report of the Second Consensus Conference, published in Circulation in 2005, defined the Brugada syndrome as ST-segment elevation in the right precordial ECG leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts.1 An autosomal dominant disease with incomplete penetrance, Brugada syndrome has been linked to mutations in SCN5A, the gene ...
متن کاملCharacterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome.
BACKGROUND Brugada syndrome is a heterogeneous heart rhythm disorder characterized by an atypical right bundle block pattern with ST-segment elevation and T-wave inversion in the right precordial leads. Loss-of-function mutations in SCN5A encoding the cardiac sodium channel Na(V)1.5 are associated with Brugada syndrome. We found novel mutations in SCN5A in 2 different families diagnosed with Br...
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