Ruiz Salas Amalio, Peña Hernández José, Medina Palomo Carmen, Barrera Cordero Alberto, Cabrera Bueno Fernando, García Pinilla José Manuel, Guijarro Ana, Morcillo-Hidalgo Luis, Jiménez Navarro Manuel, Gómez Doblas Juan José, de Teresa Eduardo, Alzueta Javier
Unidad de Gestión Clínica (UGC) del Corazón, CIBER Cardiovascular, Instituto de Biomedicina de Málaga (IBIMA), Hospital Universitario Virgen de la Victoria, Universidad de Málaga, Málaga, Spain.
Unidad de Gestión Clínica (UGC) del Corazón, CIBER Cardiovascular, Instituto de Biomedicina de Málaga (IBIMA), Hospital Universitario Virgen de la Victoria, Universidad de Málaga, Málaga, Spain.
Rev Esp Cardiol (Engl Ed). 2018 Dec;71(12):1018-1026. doi: 10.1016/j.rec.2018.03.001. Epub 2018 Mar 30.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by progressive fibrofatty replacement of predominantly right ventricular myocardium. This cardiomyopathy is a frequent cause of sudden cardiac death in young people and athletes. The aim of our study was to determine the incidence of pathological or likely pathological desmosomal mutations in patients with high-risk definite ARVC.
This was an observational, retrospective cohort study, which included 36 patients diagnosed with high-risk ARVC in our hospital between January 1998 and January 2015. Genetic analysis was performed using next-generation sequencing.
Most patients were male (28 patients, 78%) with a mean age at diagnosis of 45 ± 18 years. A pathogenic or probably pathogenic desmosomal mutation was detected in 26 of the 35 index cases (74%): 5 nonsense, 14 frameshift, 1 splice, and 6 missense. Novel mutations were found in 15 patients (71%). The presence or absence of desmosomal mutations causing the disease and the type of mutation were not associated with specific electrocardiographic, clinical, arrhythmic, anatomic, or prognostic characteristics.
The incidence of pathological or likely pathological desmosomal mutations in ARVC is very high, with most mutations causing truncation. The presence of desmosomal mutations was not associated with prognosis.
致心律失常性右室心肌病（ARVC）是一种遗传性心肌病，其特征为主要是右心室心肌进行性纤维脂肪替代。这种心肌病是年轻人和运动员心脏性猝死的常见原因。我们研究的目的是确定高危确诊ARVC患者中病理性或可能病理性桥粒基因突变的发生率。
这是一项观察性回顾性队列研究，纳入了1998年1月至2015年1月在我院诊断为高危ARVC的36例患者。采用下一代测序进行基因分析。
大多数患者为男性（28例，78%），诊断时的平均年龄为45±18岁。在35例索引病例中的26例（74%）检测到致病性或可能致病性桥粒基因突变：5例无义突变、14例移码突变、1例剪接突变和6例错义突变。15例患者（71%）发现了新的突变。导致疾病的桥粒基因突变的有无及突变类型与特定的心电图、临床、心律失常、解剖或预后特征无关。
ARVC中病理性或可能病理性桥粒基因突变的发生率非常高，大多数突变导致截短。桥粒基因突变的存在与预后无关。
