Teresa Cymbron, Rui Anjos, Rita Cabral, Clara Macedo, Carlos Pereira Duarte, Luisa Mota-Vieira
{"title":"葡萄牙亚速尔群岛s<s:1> o Miguel岛先天性心脏病的流行病学特征","authors":"Teresa Cymbron, Rui Anjos, Rita Cabral, Clara Macedo, Carlos Pereira Duarte, Luisa Mota-Vieira","doi":"10.1159/000091488","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>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.</p><p><strong>Methods: </strong>Based on the Azorean Registry of CHD, which includes complete clinical and personal information, 189 patients were diagnosed.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"9 2","pages":"107-12"},"PeriodicalIF":0.0000,"publicationDate":"2006-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000091488","citationCount":"15","resultStr":"{\"title\":\"Epidemiological characterization of congenital heart disease in São Miguel Island, Azores, Portugal.\",\"authors\":\"Teresa Cymbron, Rui Anjos, Rita Cabral, Clara Macedo, Carlos Pereira Duarte, Luisa Mota-Vieira\",\"doi\":\"10.1159/000091488\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>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.</p><p><strong>Methods: </strong>Based on the Azorean Registry of CHD, which includes complete clinical and personal information, 189 patients were diagnosed.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>\",\"PeriodicalId\":80975,\"journal\":{\"name\":\"Community genetics\",\"volume\":\"9 2\",\"pages\":\"107-12\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2006-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1159/000091488\",\"citationCount\":\"15\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Community genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1159/000091488\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Community genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000091488","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Epidemiological characterization of congenital heart disease in São Miguel Island, Azores, Portugal.
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.
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