Department of Pediatrics, Vanderbilt University School of Medicine and the Monroe Carell Jr Children's Hospital at Vanderbilt, USA.
Lupus. 2012 Apr;21(5):559-62. doi: 10.1177/0961203311430512. Epub 2011 Dec 2.
Congenital complete heart block associated with transplacental passage of maternal autoantibodies reactive with SSA/Ro and SSB/La is a rare disease with significant fetal, neonatal, and childhood morbidity and mortality. We present the case of dichorionic, diamniotic twins (female twin A and male twin B) exposed to maternal Ro and La autoantibodies with different disease expression. Twin A (female) had Mobitz type I second degree atrioventricular (AV) block (Wenckebach); twin B (male) had normal sinus rhythm. Both twins had structurally normal hearts but demonstrated echocardiographic evidence of endocardial fibroelastosis (EFE). Following maternal dexamethasone 4 mg once daily, twin A reverted to sinus rhythm in utero; twin B remained in sinus rhythm throughout pregnancy. Echocardiograms after delivery demonstrated resolution of EFE in both fetuses, and EKGs confirmed sinus rhythm. However, at five months of age, Holter monitor demonstrated first degree AV block and intermittent Wenckebach in twin A. Twin B remains in sinus rhythm. This case is one of only three in the literature that describes Mobitz type I second degree atrioventricular block presenting in fetuses exposed to maternal SSA and SSB autoantibodies and is the first case that we have seen reported in twins. Importantly, this case also adds to the growing body of literature describing EFE as a presentation of neonatal lupus with or without conduction system abnormalities, emphasizes the spectrum of cardiac conduction abnormalities in neonatal lupus syndrome, and raises interesting questions about discordant disease expression in twins.
先天性完全性心脏传导阻滞与母体自身抗体经胎盘传递至胎儿有关,这些自身抗体与 SSA/Ro 和 SSB/La 反应,是一种罕见疾病,可导致胎儿、新生儿和儿童出现较高的发病率和死亡率。我们报告了一例双绒毛膜、双羊膜双胞胎(女性双胞胎 A 和男性双胞胎 B)暴露于母体 Ro 和 La 自身抗体,但疾病表现不同。双胞胎 A(女性)存在莫氏 I 型二度房室(AV)传导阻滞(文氏现象);双胞胎 B(男性)则具有正常窦性节律。两例双胞胎均具有结构正常的心脏,但均表现出心内膜弹力纤维增生症(EFE)的超声心动图证据。接受母亲每日 4 毫克地塞米松治疗后,双胞胎 A 在子宫内恢复窦性节律;双胞胎 B 在整个孕期均保持窦性节律。分娩后的超声心动图显示两例胎儿的 EFE 均已消退,心电图也证实了窦性节律。然而,在 5 个月大时,双胞胎 A 的动态心电图监测显示一度房室传导阻滞和间歇性文氏现象。双胞胎 B 仍保持窦性节律。这是文献中仅有的三例描述母体 SSA 和 SSB 自身抗体暴露胎儿存在莫氏 I 型二度房室传导阻滞的病例之一,也是我们所见的首例双胞胎病例。重要的是,该病例也增加了越来越多的描述 EFE 作为新生儿狼疮表现的文献,无论是否存在传导系统异常,强调了新生儿狼疮综合征中心律传导异常的谱,并提出了关于双胞胎中不一致疾病表现的有趣问题。