García-Cano Laura, Miguel Martín-Torres José, García-Fernández Amaya, Feliu-Rey Eloísa, Gabriel Martínez-Martínez Juan, Miguel Ruiz-Nodar Juan
Cardiology Department, General University Hospital Dr. Balmis of Alicante, Institute of Sanitary and Biomedical Research of Alicante (ISABIAL), Alicante, Spain.
Cardiology Department. General University Hospital of Elche, Alicante, Spain.
Int J Cardiol Heart Vasc. 2024 Feb 27;51:101367. doi: 10.1016/j.ijcha.2024.101367. eCollection 2024 Apr.
The diagnosis of left dominant arrhythmogenic cardiomyopathy (LDAC) is sometimes complex. The Padua group recently published a document with criteria to identify patients with LDAC, requiring a compatible genetic variant for diagnosis. Due to the gaps in the knowledge of the role of genetics in its pathogenesis, our objective is to describe the findings of the genetic test in patients with LDAC in our center and its prognostic impact.
Single-center prospective cohort study, in which we recruited 77 patients diagnosed with LDAC or biventricular arrhythmogenic cardiomyopathy according to the criteria of Sen-Chowdhry et al.
We obtained a positive result in the genetic test in 53.2 %. The desmoplakin gene was the most affected (16.9 %). The mean value of left ventricular (LV) ejection fraction was 45.6 ± 13.1 %, with no significant differences in the severity of the dysfunction according to genetics (p = 0.187). Among the patients with positive genetics there was a greater number of segments in the LV affected by fibrosis (p = 0.043). Regarding fatty infiltration in the LV and number of affected segments, there were no significant differences between groups (p = 0.144). MACE was recorded in 23 patients (29.9 %). The positive result in the genetic test was not significantly associated with the occurrence of MACE (p = 0.902).
In our study, we did not find mutations responsible for the disease in practically half of the cases. Despite the existence of a high proportion of MACE during follow-up, there were no prognostic differences according to the result of the genetic test.
左优势型致心律失常性心肌病（LDAC）的诊断有时较为复杂。帕多瓦研究小组最近发表了一份关于识别LDAC患者的标准文件，诊断需要有与之相符的基因变异。由于对遗传学在其发病机制中作用的认识存在差距，我们的目的是描述我们中心LDAC患者的基因检测结果及其预后影响。
单中心前瞻性队列研究，我们根据森-乔杜里等人的标准招募了77例诊断为LDAC或双心室致心律失常性心肌病的患者。
我们在53.2%的患者中获得了基因检测阳性结果。桥粒斑蛋白基因受影响最为严重（16.9%）。左心室（LV）射血分数的平均值为45.6±13.1%，根据遗传学分析，功能障碍的严重程度无显著差异（p = 0.187）。在基因检测呈阳性的患者中，左心室受纤维化影响的节段数量更多（p = 0.043）。关于左心室脂肪浸润和受影响节段数量，两组之间无显著差异（p = 0.144）。23例患者（29.9%）记录到主要不良心血管事件（MACE）。基因检测阳性结果与MACE的发生无显著相关性（p = 0.902）。
在我们的研究中，几乎一半的病例未发现导致该病的突变。尽管随访期间存在较高比例的MACE，但根据基因检测结果，预后并无差异。
