Sarquella-Brugada Georgia, Fernandez-Falgueras Anna, Cesar Sergi, Arbelo Elena, Jordà Paloma, García-Álvarez Ana, Cruzalegui Jose Carlos, Merchan Erika Fernanda, Fiol Victoria, Brugada Josep, Brugada Ramon, Campuzano Oscar
Arrhythmias Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Medical Science Department, School of Medicine, University of Girona, Girona, Spain.
Front Pediatr. 2021 Feb 22;8:601708. doi: 10.3389/fped.2020.601708. eCollection 2020.
To perform a comprehensive phenotype-genotype correlation of all rare variants in Triadin leading to malignant arrhythmias in pediatrics. Triadin knockout syndrome is a rare entity reported in pediatric population. This syndrome is caused by rare variants in the gene. Malignant ventricular arrhythmias and sudden cardiac death can be a primary manifestation of disease. Although pharmacological measures are effective, some patients require an implantable defibrillator due to high risk of arrhythmogenic episodes. Fourteen rare genetic alterations in have been reported to date. All of these potentially pathogenic alterations are located in a specific area of , highlighting this hot spot as an arrhythmogenic gene region. Early recognition and comprehensive interpretation of alterations in Triadin are crucial to adopt preventive measures and avoid malignant arrhythmogenic episodes in pediatric population.
对三联蛋白中所有导致小儿恶性心律失常的罕见变异进行全面的表型-基因型相关性研究。三联蛋白敲除综合征是在儿科人群中报道的一种罕见病症。该综合征由该基因中的罕见变异引起。恶性室性心律失常和心源性猝死可能是该疾病的主要表现。尽管药物治疗有效，但由于心律失常发作风险高，一些患者需要植入式除颤器。迄今为止，已报道了该基因中的14种罕见基因改变。所有这些潜在的致病改变都位于该基因的特定区域，突出了这个热点作为一个致心律失常基因区域。早期识别和全面解读三联蛋白的改变对于采取预防措施和避免儿科人群中的恶性心律失常发作至关重要。
