Bauce Barbara, Frigo Gianfranco, Marcus Frank I, Basso Cristina, Rampazzo Alessandra, Maddalena Francesco, Corrado Domenico, Winnicki Mikolaj, Daliento Luciano, Rigato Ilaria, Steriotis Alexandros, Mazzotti Elisa, Thiene Gaetano, Nava Andrea
Department of Cardio-thoracic and Vascular Sciences, University of Padua Medical School, Padua, Italy.
Am J Cardiol. 2008 Nov 1;102(9):1252-7. doi: 10.1016/j.amjcard.2008.06.054. Epub 2008 Sep 12.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease characterized by myocardial necrosis followed by fibrous-fatty replacement. The pathologic process constitutes the basis for ventricular arrhythmias due to re-entrant circuits. Even if this genetic disease is transmitted in the majority of cases with autosomal dominant trait, in all reported series ARVC is prevalent in men. In this study we investigate the impact that gender may have on clinical presentation in a large series of patients with ARVC. A total of 171 consecutive patients (mean 29 +/- 12 years, range 13 to 65) affected by ARVC were examined with family and personal history, 12-lead electrocardiogram (ECG), 24-hour ECG, signal-averaged ECG, and echocardiogram. Moreover, electrophysiological study and ventricular angiography were performed in selected cases. In the 171 subjects, 71% were men and 29% women (p = 0.02). No gender differences were found considering the age at the time of diagnosis and of study enrolment and the prevalence of index cases and family members. The genders differed in prevalence of abnormal ECG (69% vs 52%, p = 0.036) and presence of late potentials (60% vs 40%, p = 0.01). Moreover, men had larger right ventricular dimensions and practiced competitive sports more frequently (26% vs 14%, p <0.001). Nonetheless, gender was not associated with a high incidence of life-threatening ventricular arrhythmias or with a poor outcome. In conclusion, our data show that diagnosis of ARVC is less common in female patients, who present a higher prevalence of mild forms. Nonetheless, the degree of electrical instability does not differ significantly between genders in affected subjects. Even if ARVC remains mainly a male disease, gender does not have a role in patients' outcome. The cause of the under-representation of women is not clear, even if potentially important factors such as sexual hormones and physical activity could play a role.
致心律失常性右室心肌病（ARVC）是一种心肌疾病，其特征为心肌坏死，随后被纤维脂肪组织替代。该病理过程构成了折返环路导致室性心律失常的基础。即使这种遗传性疾病在大多数情况下以常染色体显性特征遗传，但在所有已报道的病例系列中，ARVC在男性中更为普遍。在本研究中，我们调查了性别对一大系列ARVC患者临床表现的影响。总共对171例连续的ARVC患者（平均年龄29±12岁，范围13至65岁）进行了家族史和个人史、12导联心电图（ECG）、24小时心电图、信号平均心电图及超声心动图检查。此外，对部分病例进行了电生理研究和心室血管造影。在这171名受试者中，71%为男性，29%为女性（p = 0.02）。在诊断时和研究入组时的年龄以及索引病例和家庭成员的患病率方面，未发现性别差异。男女在异常心电图的患病率（69%对52%，p = 0.036）和晚电位的存在（60%对40%，p = 0.01）方面存在差异。此外，男性的右心室尺寸更大，且更频繁地从事竞技运动（26%对14%，p <0.001）。尽管如此，性别与危及生命的室性心律失常的高发生率或不良预后无关。总之，我们的数据表明ARVC在女性患者中的诊断较少见，她们中轻度形式更为普遍。然而，在受影响的受试者中，男女之间的电不稳定程度并无显著差异。即使ARVC主要仍是男性疾病，但性别并不影响患者的预后。女性患者比例较低的原因尚不清楚，尽管诸如性激素和体育活动等潜在重要因素可能起作用。
