子宫内特发性导管狭窄：Alagille 和 Williams 综合征动脉病的产前表现。
In-utero idiopathic ductal constriction: a prenatal manifestation of Alagille and Williams syndrome arteriopathy.
机构信息
Division of Cardiology, Department of Pediatrics, University of Wisconsin School of Medicine, Madison, WI, USA.
Section of Cardiology, Department of Pediatrics, Children's Hospital Colorado, The University of Colorado School of Medicine, Aurora, CO, USA.
出版信息
J Perinatol. 2018 Nov;38(11):1453-1456. doi: 10.1038/s41372-018-0221-9. Epub 2018 Sep 10.
OBJECTIVE
Williams and Alagille syndromes are genetic disorders associated with pathologic arterial narrowing. We hypothesized that fetal idiopathic ductus arteriosus (DA) constriction may represent a prenatal manifestation of the arteriopathy associated with these syndromes.
METHODS
Multi-institutional case series review of the pre- and postnatal medical records, echocardiograms, and genetic test results of fetuses presenting with idiopathic DA constriction.
RESULTS
We identified four cases of idiopathic fetal DA constriction at 21-36 weeks of gestation. All had right ventricular hypertension, dilation, hypertrophy, and dysfunction and either DA constriction or absence. All demonstrated progressive peripheral pulmonary artery stenosis after birth. Three met clinical diagnostic criteria for Alagille syndrome; two tested had confirmatory JAG1 mutations. One also developed supravalvar aortic stenosis after birth and was positive for 7q11.23 deletion (Williams syndrome).
CONCLUSION
This is the first case series to suggest that idiopathic fetal DA constriction may be a prenatal manifestation of genetic arteriopathy.
目的
Williams 综合征和 Alagille 综合征均为与动脉狭窄相关的遗传性疾病。我们假设胎儿特发性动脉导管收缩可能是与这些综合征相关的动脉病变的产前表现。
方法
对 21-36 孕周出现特发性动脉导管收缩的胎儿的产前和产后病历、超声心动图和基因检测结果进行多机构病例系列回顾。
结果
我们在妊娠 21-36 周时发现了 4 例特发性胎儿动脉导管收缩。所有患者均存在右心室高压、扩张、肥厚和功能障碍，以及动脉导管收缩或缺失。所有患者在出生后均出现进行性外周肺动脉狭窄。3 例符合 Alagille 综合征的临床诊断标准；2 例经检测存在 JAG1 突变的确认。其中 1 例在出生后还出现了主动脉瓣上狭窄，且 7q11.23 缺失阳性（Williams 综合征）。
结论
这是首例病例系列研究提示特发性胎儿动脉导管收缩可能是遗传性动脉病变的产前表现。
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