Grech V
Paediatric Department, St. Luke's Hospital, Guardamangia, Malta.
Pediatr Cardiol. 1999 Sep-Oct;20(5):355-7. doi: 10.1007/s002469900484.
Hypoplastic left heart syndrome (HLHS) is the most severe form of congenital heart disease (CHD), which until recently was considered to be fatal. However, surgical intervention is now possible using neonatal heart transplantation or three-stage palliative surgery (Norwood's staged operations). In Malta, during the period 1977-1994, there were four cases of classic HLHS, with an additional three cases of HLHS-like cases. The birth prevalence of classical HLHS was 0.04 per 1000 live births, whereas that of combined HLHS-like cases was 0.06 per 1000 live births for the same period. One neonate with HLHS is expected every 3 or 4 years. Despite a high rate of ascertainment of CHD, the birth prevalence of HLHS in Malta was significantly lower than that quoted in historical studies (p < 0.006) and in the European Congenital Anomalies and Twins Registry (p < 0.002). Malta has the expected birth prevalence of CHD, but the spectrum of CHD exhibits a predominance of lesions causing right ventricular outflow obstruction and a deficit of lesions causing left ventricular outflow tract obstruction. CHD is caused by a genetic-environmental interaction. The low rate of HLHS in Malta appears to be a true divergence from the usual observed spectrum of CHD and may be caused by genetic and/or environmental factors.
左心发育不全综合征（HLHS）是先天性心脏病（CHD）最严重的形式，直到最近一直被认为是致命的。然而，现在可以通过新生儿心脏移植或三阶段姑息手术（诺伍德分期手术）进行外科干预。在马耳他，1977年至1994年期间，有4例典型HLHS病例，另有3例类似HLHS的病例。典型HLHS的出生患病率为每1000例活产0.04例，而同期合并类似HLHS病例的出生患病率为每1000例活产0.06例。预计每3或4年有1例HLHS新生儿。尽管CHD的确诊率很高，但马耳他HLHS的出生患病率明显低于历史研究（p<0.006）和欧洲先天性异常与双胞胎登记处（p<0.002）引用的数据。马耳他的CHD出生患病率符合预期，但CHD的谱系显示，导致右心室流出道梗阻的病变占主导地位，而导致左心室流出道梗阻的病变较少。CHD是由基因-环境相互作用引起的。马耳他HLHS的低发病率似乎与通常观察到的CHD谱系真正不同，可能是由遗传和/或环境因素导致的。
