Johannes Judith, Greutmann Matthias, Tobler Daniel, Bouchardy Judith, Stambach Dominik, Wustmann Kerstin, Schwitz Fabienne, Schwerzmann Markus
1 Center for Congenital Heart Disease, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
2 University Heart Center, Department of Cardiology, University of Zurich, Zurich, Switzerland.
Pulm Circ. 2019 Jan-Mar;9(1):2045894018811147. doi: 10.1177/2045894018811147. Epub 2018 Oct 19.
Trisomy 21 (T21) is associated in 40-45% of cases with heart defects, most commonly shunt lesions. These defects, if not repaired, can lead to irreversible shunt-induced pulmonary hypertension (i.e. Eisenmenger syndrome [ES]). In ES patients, intracardiac repair is no longer possible, but selective pulmonary vasodilators may increase exercise capacity and improve prognosis. This study aimed to estimate the prevalence of cardiac defects and ES in adult T21 patients and to assess the impact of T21 on treatment modalities and outcome in ES patients. A questionnaire was sent to 6906 Swiss physicians inviting them to indicate the number of adults with T21 under their care (survey report). We also analyzed all adults with ES (with and without T21) included in the Swiss Adult Congenital HEart disease Registry (SACHER) and studied the impact of T21 on the use of selective pulmonary vasodilators and survival. In the survey, 348 physicians cared for 695 adult T21 patients. Overall, 24% of T21 survey patients were known to have a cardiac defect, one in four with a defect had developed ES and 13% of those with ES were on specific pulmonary vasodilators. In SACHER, ES was present in 2% of adults with congenital heart disease and selective pulmonary vasodilators were used in 68% of ES patients with T21. In SACHER, survival during follow-up was worse with higher nt-proBNP levels (hazard ratio [HR] = 1.15 per 1000 units, 95% confidence interval [CI] = 1.02-1.29) and lower left ventricular ejection fraction (HR = 1.07 per percent decrease, 95% CI = 1.01-1.13). Age at inclusion and T21 did not affect survival. The prevalence of cardiac defects in adults with T21 in Switzerland is half the prevalence in children. T21 is over-represented among adults with ES. Raised awareness of the therapeutic options for T21 patients with ES is warranted.
21三体综合征（T21）在40% - 45%的病例中与心脏缺陷相关，最常见的是分流性病变。这些缺陷若不修复，可导致不可逆转的分流性肺动脉高压（即艾森曼格综合征[ES]）。在ES患者中，心脏内修复已不再可行，但选择性肺血管扩张剂可能会增加运动能力并改善预后。本研究旨在评估成年T21患者中心脏缺陷和ES的患病率，并评估T21对ES患者治疗方式和预后的影响。向6906名瑞士医生发送了一份调查问卷，邀请他们指出其照料下成年T21患者的数量（调查报告）。我们还分析了瑞士成人先天性心脏病登记处（SACHER）纳入的所有ES成年患者（有或无T21），并研究了T21对选择性肺血管扩张剂使用和生存的影响。在调查中，348名医生照料着695名成年T21患者。总体而言，已知24%的T21调查患者有心脏缺陷，四分之一有缺陷的患者已发展为ES，且13%的ES患者正在使用特定的肺血管扩张剂。在SACHER中，先天性心脏病成年患者中有2%患有ES，68%的T21 ES患者使用了选择性肺血管扩张剂。在SACHER中，随访期间nt - proBNP水平较高（风险比[HR] =每1000单位1.15，95%置信区间[CI] = 1.02 - 1.29）和左心室射血分数较低（HR =每降低1% 1.07，95% CI = 1.01 - 1.13）时，生存率较差。纳入时的年龄和T21不影响生存。瑞士成年T21患者中心脏缺陷的患病率是儿童患病率的一半。T21在成年ES患者中所占比例过高。有必要提高对T21 ES患者治疗选择的认识。
