马耳他法洛四联症病例过多。
An excess of tetralogy of Fallot in Malta.
作者信息
Grech V
机构信息
Paediatric Department, St Lukes Hospital, Guardamangia, Malta.
出版信息
J Epidemiol Community Health. 1998 May;52(5):280-2. doi: 10.1136/jech.52.5.280.
STUDY OBJECTIVE
To estimate birth prevalence of tetralogy of Fallot (TF) in Malta.
DESIGN
Retrospective data collection and analysis, and comparison with earlier epidemiological studies dealing with congenital heart disease.
SETTING
Regional hospital providing exclusive diagnostic and follow up services for the entire country of Malta.
PATIENTS
All Maltese live births diagnosed as having TF.
MAIN RESULTS
The birth prevalence of TF in Malta for the period 1980-1994 was 0.64/1000 live births (95% confidence intervals 0.48, 0.85/1000 live births). This was significantly higher than previously reported in the medical literature.
CONCLUSIONS
The Maltese gene pool seems to have a genetic predisposition towards live births with TF. Population genetic studies with emphasis on the prevalence of 22q11 microdeletion may yield clues regarding the cause of the high rate of this condition.
研究目的
评估法洛四联症（TF）在马耳他的出生患病率。
设计
回顾性数据收集与分析，并与早期关于先天性心脏病的流行病学研究进行比较。
地点
为整个马耳他提供独家诊断和随访服务的地区医院。
患者
所有被诊断患有TF的马耳他活产婴儿。
主要结果
1980 - 1994年期间，马耳他TF的出生患病率为0.64/1000活产婴儿（95%置信区间为0.48，0.85/1000活产婴儿）。这显著高于医学文献中先前报道的患病率。
结论
马耳他基因库似乎对患有TF的活产婴儿具有遗传易感性。着重于22q11微缺失患病率的群体遗传学研究可能会揭示这种疾病高发病率的原因。
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