Atrio-ventricular valve dysplasia in 22 newborn infants
Atrio-ventricular valve dysplasia in 22 newborn infants
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DOI：
10.1016/s0167-5273(97)02937-9
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发表时间：
1997-04-18
影响因子：
3.5
通讯作者：
Kachaner, J
中科院分区：
文献类型：
--
作者：
Bonnet, D;Saygili, A;Kachaner, J
我们回顾性研究了我们机构的经验，孤立性发育不良的一个或两个房室瓣的22个新生儿。排除了所有伴有心脏畸形的患者。10例患者表现出孤立的三尖瓣发育不良。1例患者患有三尖瓣发育不良和肺动脉瓣发育不良。10例患者的两个房室瓣均受累。二尖瓣发育不良合并肺动脉瓣狭窄1例。相关综合征和/或染色体异常为：唐氏综合征（n=2）、18三体（n=1）、努南综合征（n=1）、马凡氏综合征（n=3）、埃勒斯-当洛斯和皮肤松弛拉克萨（n=2）。随访期间（平均51个月）死亡率为27.2%：3例染色体非整倍体患者，2例重度新生儿马凡综合征患者和1例Ehlers-Danlos患者。并发症包括：持续性室上性心动过速3例，新生儿葡萄球菌性三尖瓣心内膜炎1例，持续性明显瓣膜病8例。其余9例存活者，房室瓣发育不良持续存在，无或轻度关闭不全。除了明显的染色体异常，新生儿与发育不良的瓣膜应调查结缔组织疾病的表现。这可能有助于识别新的多效性综合征，其中包括瓣膜发育不良作为一种表现。(C)1997 Elsevier Science爱尔兰有限公司
We retrospectively studied the experience of our institution with isolated dysplasia of one or both atrio-ventricular valves in 22 newborn infants. All patients with associated cardiac malformations were excluded. Ten patients exhibited isolated tricuspid valve dysplasia. One patient had tricuspid valve dysplasia and a dysplastic pulmonary valve. In 10 patients, both atrio-ventricular valves were affected. Finally, mitral valve dysplasia was associated with pulmonary valve stenosis in 1 case. Associated syndromes and/or chromosomal anomalies were: Down syndrome (n=2), trisomy 18 (n=1), Noonan syndrome (n=1), Marfan syndrome (n=3), Ehlers-Danlos and Cutis laxa (n=2). Mortality was 27.2% during follow-up (mean 51 months): 3 patients with chromosomal aneuploidies, 2 patients with severe neonatal Marfan syndrome and 1 with Ehlers-Danlos. Complications were: sustained supra-ventricular tachycardia in 3, neonatal staphylococcal tricuspid valve endocarditis in 1, persistent significant valvular disease in 8. In the remaining 9 survivors, the dysplasia of the atrio-ventricular valves persists with absent or mild incompetence. Beside obvious chromosomal anomalies, newborn infants with dysplastic valves should be investigated for manifestations of connective tissue disorders. This may help to identify new pleiotropic syndromes which include valvular dysplasia as one manifestation. (C) 1997 Elsevier Science Ireland Ltd.