Epidemiological characterization of congenital heart disease in São Miguel Island, Azores, Portugal.

Teresa Cymbron, Rui Anjos, Rita Cabral, Clara Macedo, Carlos Pereira Duarte, Luisa Mota-Vieira
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引用次数: 15

Abstract

Objectives: This study aimed to characterize the prevalence of congenital heart disease (CHD) in children born alive in São Miguel island from January 1992 to December 2001.

Methods: Based on the Azorean Registry of CHD, which includes complete clinical and personal information, 189 patients were diagnosed.

Results: During this 10-year period, the average prevalence of CHD is 9.16 per 1,000 live births (range 4.77-12.75). The most frequent cardiac malformations found were: ventricular septal defect (38.1%), atrial septal defect (12.2%) and patent ductus arteriosus (11.6%). Until now, four familial clusters were identified, representing a total of 13 patients.

Conclusions: This first epidemiological study of CHD in the Azorean population reveals evidence for familial aggregation, which is of great interest for understanding the genes involved in these complex pathologies.

葡萄牙亚速尔群岛s o Miguel岛先天性心脏病的流行病学特征
目的:本研究旨在了解1992年1月至2001年12月在奥米格尔岛出生的儿童先天性心脏病(CHD)的患病率。方法:基于包含完整临床和个人信息的Azorean冠心病注册表,对189例患者进行诊断。结果:在这10年期间,冠心病的平均患病率为9.16 / 1000活产(范围4.77-12.75)。最常见的心脏畸形是室间隔缺损(38.1%)、房间隔缺损(12.2%)和动脉导管未闭(11.6%)。到目前为止,已经确定了4个家族性群集,总共代表13名患者。结论:这项首次在亚速尔群岛人群中进行的冠心病流行病学研究揭示了家族聚集的证据,这对了解这些复杂疾病的相关基因具有重要意义。
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