Aly Ashraf M, Reid Deborah A, Jiwani Amyn K, Desai Pooja H
Division of Pediatric Cardiology, Department of Pediatrics, University of Texas Medical Branch-Galveston, Galveston, Texas.
AJP Rep. 2012 Nov;2(1):51-4. doi: 10.1055/s-0032-1316464. Epub 2012 Jul 16.
Absent pulmonary valve syndrome (APVS) is a rare congenital heart defect, usually associated with tetralogy of Fallot (TOF), although other associations have been described. A pregnant woman was referred to fetal echocardiography clinic from the Maternal Fetal Medicine department due to abnormal findings on routine antenatal ultrasound, showing a pulsatile cystic mass above the left atrium and a suspected TOF. A fetal echocardiogram confirmed the presence of TOF/APVS. The pulsatile cystic mass was the aneurysmally dilated main pulmonary artery. The exact origin of the left pulmonary artery (LPA) was not clearly established prenatally. A postnatal echocardiogram of the neonate showed an abnormal origin of the LPA from the ascending aorta (hemitruncus). The neonate subsequently underwent surgical repair with a good outcome. We present a novel case of a TOF/APVS associated with an abnormal origin of the LPA from the ascending aorta.
肺动脉瓣缺如综合征（APVS）是一种罕见的先天性心脏缺陷，通常与法洛四联症（TOF）相关，不过也有其他相关联的情况被描述过。一名孕妇因常规产前超声检查发现异常，从母胎医学科转诊至胎儿超声心动图诊所，超声显示左心房上方有一个搏动性囊性肿块，疑似法洛四联症。胎儿超声心动图证实存在法洛四联症/肺动脉瓣缺如综合征。搏动性囊性肿块是呈瘤样扩张的主肺动脉。产前未明确左肺动脉（LPA）的确切起源。新生儿出生后的超声心动图显示左肺动脉起源于升主动脉（半干）异常。该新生儿随后接受了手术修复，效果良好。我们报告一例法洛四联症/肺动脉瓣缺如综合征合并左肺动脉起源于升主动脉异常的罕见病例。
