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Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs
Published in Shaker A. Mousa, Raj Bawa, Gerald F. Audette, The Road from Nanomedicine to Precision Medicine, 2020
Janet L. Williams, Wendy K. Chung, Alex Fedotov, Krzysztof Kiryluk, Chunhua Weng, John J. Connolly, Margaret Harr, Hakon Hakonarson, Kathleen A. Leppig, Eric B. Larson, Gail P. Jarvik, David L. Veenstra, Christin Hoell, Maureen E. Smith, Ingrid A. Holm, Josh F. Peterson, Marc S. Williams
As noted with TNNT2 previously, one gene (SCN5A) is associated with two different arrhythmogenic disorders: Brugada syndrome and LQT3. There are several unique aspects to disorders associated with variants in SCN5A. For patients with Brugada syndrome, a trial of therapy with sodium channel blockers is indicated. The recommended anti-arrhythmic drug is quinidine. Both recommendations are specific only for the arrhythmogenic disorders associated with variants in SCN5A. For LQT3, the treatment with beta-blockers is not indicated as these have been shown to be ineffective in this condition. These findings argue persuasively for outcomes that are not only condition specific but gene and potentially even variant specific when appropriate.
Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs
Published in Shaker A. Mousa, Raj Bawa, Gerald F. Audette, The Road from Nanomedicine to Precision Medicine, 2019
Janet L. Williams, Wendy K. Chung, Alex Fedotov, Krzysztof Kiryluk, Chunhua Weng, John J. Connolly, Margaret Harr, Hakon Hakonarson, Kathleen A. Leppig, Eric B. Larson, Gail P. Jarvik, David L. Veenstra, Christin Hoell, Maureen E. Smith, Ingrid A. Holm, Josh F. Peterson, Marc S. Williams
As noted with TNNT2 previously, one gene (SCN5A) is associated with two different arrhythmogenic disorders: Brugada syndrome and LQT3. There are several unique aspects to disorders associated with variants in SCN5A. For patients with Brugada syndrome, a trial of therapy with sodium channel blockers is indicated. The recommended anti-arrhythmic drug is quinidine. Both recommendations are specific only for the arrhythmogenic disorders associated with variants in SCN5A. For LQT3, the treatment with beta-blockers is not indicated as these have been shown to be ineffective in this condition. These findings argue persuasively for outcomes that are not only condition specific but gene and potentially even variant specific when appropriate.
Bioinformatics Analysis of Dysfunctional (Mutated) Proteins of Cardiac Ion Channels Underlying the Brugada Syndrome
Published in Qurban A. Memon, Shakeel Ahmed Khoja, Data Science, 2019
Carlos Polanco, Manlio F. Márquez, Vladimir N. Uversky, Thomas Buhse, Miguel Arias Estrada
Sodium channel protein type 5 subunit alpha (SCN5A, UniProt ID: Q14524), mutations in SCN5A gene are associated with progressive familial heart block 1A (PFHB1A), long QT syndrome 3 (LQT3), BrS 1 (BRGDA1), sick sinus syndrome 1 (SSS1), familial paroxysmal ventricular fibrillation 1 (VF1), sudden infant death syndrome (SIDS), atrial standstill 1 (ATRST1), dilated cardiomyopathy, 1E (CMD1E), and familial atrial fibrillation 10 (ATFB10).
Usefulness of insertable cardiac monitors for risk stratification: current indications and clinical evidence
Published in Expert Review of Medical Devices, 2023
Amira Assaf, Dominic AMJ Theuns, Michelle Michels, Jolien Roos-Hesselink, Tamas Szili-Torok, Sing-Chien Yap
Brugada syndrome (BrS) is characterized by a coved-type ST-segment elevation ≥2 mm and negative T-wave in the right precordial leads [28]. ECG changes are mostly dynamic and may be provoked by fever or sodium channel blocker challenge. Loss-of-function mutations in the SCN5A gene are definitive causative but are found in only 20% of BrS patients [29]. There is growing evidence suggesting an epicardial arrhythmic substrate in the right ventricular outflow tract (RVOT) resulting in impaired conduction reserve [30–32]. Patients are at increased risk for SCD, especially between the age of 30 and 50 years old. Well-established risk factors for SCD are the presence of a spontaneous type 1 ECG and arrhythmogenic syncope [33]. Furthermore, early repolarization and type 1 ECG in peripheral leads have recently been identified as important risk markers for ventricular arrhythmias (VA)/SCD [6]. There is still debate on the role of programmed electrical stimulation for risk stratification [34]. The guidelines recommend a primary prevention ICD in patients with spontaneous type 1 Brugada pattern and arrhythmogenic syncope (2022 ESC VA/SCD guidelines: class IIa, 2017 American Heart Association [AHA]/ American College of Cardiology [ACC]/ Heart Rhythm Society [HRS] VA/SCD guidelines: class I) [17,18]. Furthermore, in the 2022 ESC VA/SCD guidelines an ICD may be considered (class IIb) in patients with inducible polymorphic VT/ventricular fibrillation (VF) [18]. Risk stratification is challenging in this population considering the low rate of appropriate ICD therapy and high rate of ICD-related complications including inappropriate ICD shocks [13,35].