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Brugada ECG pattern in hypertrophic cardiomyopathy: Brugada phenocopy or overlapping syndrome?
Journal of Electrocardiology ( IF 1.3 ) Pub Date : 2021-10-22 , DOI: 10.1016/j.jelectrocard.2021.10.004
Elia De Maria 1 , Ambra Borghi 1 , Laura Tonelli 2 , Rita Selvatici 2 , Stefano Cappelli 1 , Francesca Gualandi 3
Affiliation  

The term phenocopy indicates a condition that imitates one produced by a gene and is also used for acquired Brugada-like ECG manifestations. Cases of Brugada phenocopies are increasingly reported in literature and an international registry is ongoing. We describe two patients with Hypertrophic Cardiomyopathy (HCM) and Brugada ECG pattern. Both patients carried the same pathogenic splicing mutation in MYBPC3 gene (responsible for HCM) while no genetic mutation associated with Brugada Syndrome was identified. To the best of our knowledge, Brugada ECG pattern has been rarely reported in patients with HCM.



中文翻译:

肥厚型心肌病的 Brugada 心电图模式:Brugada 表型或重叠综合征?

术语 phenocopy 表示一种模仿基因产生的条件,也用于获得性 Brugada 样 ECG 表现。文献中越来越多地报道了 Brugada 表型的病例,并且正在进行国际登记。我们描述了两名肥厚性心肌病 (HCM) 和 Brugada 心电图模式的患者。两名患者在 MYBPC3 基因(负责 HCM)中携带相同的致病剪接突变,但未发现与 Brugada 综合征相关的基因突变。据我们所知,在 HCM 患者中很少报道 Brugada 心电图模式。

更新日期:2021-10-27
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