Iacobelli R, Pasquini L, Toscano A, Raimondi F, Michielon G, Tozzi A E, Sanders S P
Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Hospital, Rome, Italy.
Ultrasound Obstet Gynecol. 2008 Jul;32(1):31-5. doi: 10.1002/uog.5356.
Pulmonary atresia with intact ventricular septum (PAIVS) is a rare cardiac malformation with a broad spectrum of anatomical manifestations, varying from types suitable for biventricular repair to those with diminutive right ventricle and primitive ventriculocoronary connections (VCC), more suitable for single-ventricle palliation or heart transplantation. We sought to test whether tricuspid regurgitation is an easily detectable prenatal criterion with which to identify PAIVS patients at lower risk of needing postnatal single-ventricle palliation.
We identified retrospectively patients with both fetal diagnosis and postnatal confirmation of PAIVS who were seen at Bambino Gesù Hospital between January 2000 and December 2006. Tricuspid valve/mitral valve (TV/MV) ratio, presence and severity of tricuspid regurgitation and direct visualization of VCC were evaluated by echocardiography both pre- and postnatally.
We identified 22 patients with a prenatal diagnosis of PAIVS. Four pregnancies were terminated and one fetus was lost to follow-up, leaving 17 patients for the analysis. Based on postnatal cardiac catheterization and/or echocardiography we divided our population in two groups: Group 1 included 10 patients with VCC; Group 2 included seven patients without VCC. At fetal echocardiography, tricuspid regurgitation was absent in all ten Group 1 patients and present in all seven Group 2 patients. VCC were seen directly in 6/10 Group 1 patients and in no Group 2 patients. A cut-off value of 0.56 for the TV/MV ratio was highly predictive of VCC during fetal life, with a sensitivity of 100% and a specificity of 90%.
The absence of tricuspid regurgitation in fetuses affected by PAIVS is a strong prenatal echocardiographic predictor of VCC, as is a TV/MV ratio < 0.56. Fetuses presenting with tricuspid regurgitation and relatively large right ventricle are at lower risk of needing single-ventricle palliation postnatally. This inforation could be helpful for appropriate prenatal counseling and postnatal decision-making.
室间隔完整的肺动脉闭锁（PAIVS）是一种罕见的心脏畸形，具有广泛的解剖学表现，从适合双心室修复的类型到右心室极小且存在原始心室冠状动脉连接（VCC）的类型不等，后者更适合单心室姑息治疗或心脏移植。我们试图检验三尖瓣反流是否是一种易于检测的产前标准，用以识别出生后需要单心室姑息治疗风险较低的PAIVS患者。
我们回顾性确定了2000年1月至2006年12月期间在 Bambino Gesù医院就诊的胎儿诊断及出生后确诊为PAIVS的患者。通过产前和产后超声心动图评估三尖瓣/二尖瓣（TV/MV）比值、三尖瓣反流的存在及严重程度以及VCC的直接可视化情况。
我们确定了22例产前诊断为PAIVS的患者。4例妊娠终止且1例胎儿失访，剩余17例患者用于分析。根据出生后心脏导管检查和/或超声心动图，我们将研究人群分为两组：第1组包括10例有VCC的患者；第2组包括7例无VCC的患者。在胎儿超声心动图检查中，第1组的所有10例患者均无三尖瓣反流，而第2组的所有7例患者均有三尖瓣反流。10例第1组患者中有6例直接观察到VCC，第2组患者中无一例观察到。TV/MV比值的截断值为0.56时，对胎儿期VCC具有高度预测性，敏感性为100%，特异性为90%。
PAIVS胎儿中无三尖瓣反流是VCC的一个强有力的产前超声心动图预测指标，TV/MV比值<0.56也是如此。出现三尖瓣反流且右心室相对较大的胎儿出生后需要单心室姑息治疗的风险较低。这些信息可能有助于进行适当的产前咨询和出生后决策。
