Connor Jean Anne, Thiagarajan Ravi
Cardiovascular Program, Children's Hospital Boston, USA.
Orphanet J Rare Dis. 2007 May 11;2:23. doi: 10.1186/1750-1172-2-23.
Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. HLHS has been reported to occur in approximately 0.016 to 0.036% of all live births. Newborn infants with the condition generally are born at full term and initially appear healthy. As the arterial duct closes, the systemic perfusion becomes decreased, resulting in hypoxemia, acidosis, and shock. Usually, no heart murmur, or a non-specific heart murmur, may be detected. The second heart sound is loud and single because of aortic atresia. Often the liver is enlarged secondary to congestive heart failure. The embryologic cause of the disease, as in the case of most congenital cardiac defects, is not fully known. The most useful diagnostic modality is the echocardiogram. The syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation. Differential diagnosis includes other left-sided obstructive lesions where the systemic circulation is dependent on ductal flow (critical aortic stenosis, coarctation of the aorta, interrupted aortic arch). Children with the syndrome require surgery as neonates, as they have duct-dependent systemic circulation. Currently, there are two major modalities, primary cardiac transplantation or a series of staged functionally univentricular palliations. The treatment chosen is dependent on the preference of the institution, its experience, and also preference. Although survival following initial surgical intervention has improved significantly over the last 20 years, significant mortality and morbidity are present for both surgical strategies. As a result pediatric cardiologists continue to be challenged by discussions with families regarding initial decision relative to treatment, and long-term prognosis as information on long-term survival and quality of life for those born with the syndrome is limited.
左心发育不全综合征（HLHS）是指左侧心脏结构发育异常，导致左心室流出道血流受阻。此外，该综合征还包括左心室、主动脉和主动脉弓发育不全，以及二尖瓣闭锁或狭窄。据报道，HLHS在所有活产婴儿中的发生率约为0.016%至0.036%。患有该疾病的新生儿通常足月出生，起初看起来健康。随着动脉导管关闭，体循环灌注减少，导致低氧血症、酸中毒和休克。通常，可能检测不到心脏杂音，或仅检测到非特异性心脏杂音。由于主动脉闭锁，第二心音响亮且单一。常因充血性心力衰竭导致肝脏肿大。与大多数先天性心脏缺陷一样，该疾病的胚胎学病因尚未完全明确。最有用的诊断方法是超声心动图。该综合征可在妊娠18至22周期间通过胎儿超声心动图诊断。鉴别诊断包括其他左侧阻塞性病变，其体循环依赖导管血流（严重主动脉狭窄、主动脉缩窄、主动脉弓中断）。患有该综合征的儿童在新生儿期就需要手术，因为他们的体循环依赖导管。目前，有两种主要治疗方式，即心脏原位移植或一系列分期的功能性单心室姑息治疗。所选择的治疗方法取决于机构的偏好、其经验以及个人偏好。尽管在过去20年中，初始手术干预后的生存率有了显著提高，但两种手术策略都存在显著的死亡率和发病率。因此，儿科心脏病专家在与患儿家庭讨论初始治疗决策以及长期预后方面仍然面临挑战，因为关于患有该综合征者的长期生存和生活质量的信息有限。
