葡萄牙亚速尔群岛圣米格尔岛先天性心脏病的流行病学特征
Epidemiological characterization of congenital heart disease in São Miguel Island, Azores, Portugal.
作者信息
Cymbron Teresa, Anjos Rui, Cabral Rita, Macedo Clara, Pereira Duarte Carlos, Mota-Vieira Luisa
机构信息
Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo, Ponta Delgada, São Miguel Island, Azores, Portugal.
出版信息
Community Genet. 2006;9(2):107-12. doi: 10.1159/000091488.
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.
目的
本研究旨在描述1992年1月至2001年12月在圣米格尔岛存活出生儿童的先天性心脏病（CHD）患病率。
方法
基于亚速尔群岛先天性心脏病登记处（其中包括完整的临床和个人信息），确诊了189例患者。
结果
在这10年期间，先天性心脏病的平均患病率为每1000例活产9.16例（范围为4.77 - 12.75）。发现的最常见心脏畸形为：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，已确定了4个家族聚集群，共13例患者。
结论
这项对亚速尔群岛人群先天性心脏病的首次流行病学研究揭示了家族聚集的证据，这对于理解这些复杂病症所涉及的基因具有重要意义。
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