China 
Africa 
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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.
Ablation for the treatment of Brugada syndrome: current status and future prospects
Published in Expert Review of Medical Devices, 2020
Alessandro Rizzo, Carlo de Asmundis, Pedro Brugada, Mark La Meir, Gian-Battista Chierchia
Brugada syndrome (BrS) is an inherited disease characterized by an increased risk of sudden cardiac death (SCD) in the absence of structural heart anomalies that was first described in 1992. BrS has been reported to be responsible for 5–40% of sudden deaths in patients without structural heart disease and it is an important cause of death in individuals aged <40 years [1–7]. The global prevalence of Brugada syndrome varies from 5 to 20 cases in every 10,000 inhabitants worldwide, and the syndrome is considered endemic in Asian countries [4]. To date, the mechanisms underlying the syndrome remain to be clarified. Several hypotheses have been proposed involving abnormalities in both repolarization and depolarization; however, the same mechanism might not be responsible for the disease in all patients, and several might coexist in a single patient. A typical presentation of the disease can be cardiac arrest or sudden cardiac death [8].