AMERICAN JOURNAL OF PERINATOLOGY/VOLUME 8, NUMBER 1 January 1991

PRENATAL DIAGNOSIS OF TETRALOGY OF FALLOT WITH ABSENT PULMONARY VALVE Nancy A. Callan, M.D., and Jean S. Kan, M.D.

ABSTRACT

Fetal echocardiography using real-time ultrasound has been shown to be reliable in the diagnosis of fetal cardiac disease. In an effort to make more effective use of this study, multiple indications for obtaining fetal echocardiograms have been proposed.1 Although polyhydramnios is an indication for fetal echocardiography and has been associated with fetal cardiac disease, the etiology of the increased amniotic fluid in these cases would seem to vary. This report illustrates the prenatal diagnosis of a rare cardiac structural anomaly in a patient presenting with severe polyhydramnios in the third trimester.

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Multiple indications for fetal echocardiography have been proposed that includes polyhydramnios. In this report, the prenatal diagnosis of tetralogy of Fallot with absent pulmonary valve and absent ductus arteriosus was made in a patient presenting with polyhydramnios. Tracheobronchial and esophageal compression secondary to gross dilation of the pulmonary artery is considered the etiology of the polyhydramnios, and in the case of this structural defect is an indicator of poor prognosis.

tetralogy of Fallot, absent pulmonary valve, and congenital absence of the ductus arteriosus. Fetal death in utero occurred at 32 weeks' gestation. The patient underwent induction of labor and a female infant weighing 1820 gm was delivered. Polyhydramnios was noted at the time of delivery. An autopsy confirmed the findings of tetralogy of Fallot, absent pulmonary valve, and absent ductus arteriosus with compression of the main stem bronchi by the dilated pulmonary arteries. Fetal karyotype was normal. DISCUSSION

CASE REPORT

The patient was a 22-year-old para 0 whose pregnancy had been uncomplicated until the development of clinical polyhydramnios at 26 weeks' gestation. A level II ultrasound study confirmed severe polyhydramnios and an abnormal four-chamber view of the heart. She was referred for a fetal echocardiogram study at 30.5 weeks' gestation. The fetal heart rate and rhythm were normal on M-mode. Two-dimensional echocardiography revealed a grossly enlarged right ventricle. A ventricular septal defect and overriding aorta were seen (Fig. 1). There was gross dilation of the main pulmonary artery, with dilation of the right pulmonary artery (Fig. 2). The ductus arteriosus was absent. Pulmonary valve regurgitation was documented by Doppler flow study (Fig. 3). The findings were consistent with

Congenital absence of the pulmonary valve is a rare cardiac structural defect most commonly associated with tetralogy of Fallot. Survival of infants with this anomaly does occur, but those with the severe form of this syndrome die in early infancy secondary to severe respiratory distress and cardiac failure. Prognosis is determined by respiratory complications related to tracheobronchial compression by the severely dilated pulmonary arteries.2 Emmanouilides et al3 have reviewed four cases of the severe form of tetralogy of Fallot and absent pulmonary valve who exhibited respiratory distress secondary to bronchial compression from dilated pulmonary arteries. They described absence of the ductus arteriosus in each of the cases and proposed a relationship between the absent ductus and the severe dilation of the pulmonary arteries.3 In utero, the ductus arteriosus may allow de-

Departments of Gynecology and Obstetrics and Pediatric Cardiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland Reprint requests: Dr. Callan, Dept. GYN/OB; Houck 228, The Johns Hopkins Hospital, 600 North Wolfe Street, Baltimore, MD 21205 Copyright © 1991 by Thieme Medical Publishers, Inc., 381 Park Avenue South, New York, NY 10016. All rights reserved.

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AMERICAN JOURNAL OF PERINATOLOGY/VOLUME 8, NUMBER 1 January 1991

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Figure 1. Ventricular septal defect and overriding aorta. Ao: aorta; RV: right ventricle; LV: left ventricle. Figure 2. Dilation of the main pulmonary artery (PA, at arrow).

compression of the pulmonary arteries into the low resistance of the placental vascular bed even in the presence of pulmonary insufficiency. In cases with an absent pulmonary valve, intact ventricular septum, and patent ductus arteriosus, it has been noted that aneurysmal dilation of the pulmonary arteries does not occur.2 Rabinovich et al4 described autopsy findings in three patients with absent pulmonary valves and agenesis of the ductus arteriosus. The findings included an abnormal arterial branching pattern with compression of the intrapulmonary bronchi. Abnormal development of the lung and its vasculature may explain the inability to relieve the respiratory compromise with relief of compression of the main stem bronchus in some patients.4 This report illustrates the prenatal diagnosis of tetralogy of Fallot with absent pulmonary valve and absent ductus arteriosus in a patient presenting with polyhydramnios. It is interesting to theorize that the polyhydramnios related to the massive dilation of the pulmonary arteries, leading to tracheobronchial and esophageal compression with obstruction of fetal swallowing. Polyhydramnios in association with tetralogy of Fallot with absent pulmonary valve and agenesis of the ductus arteriosus may have been an 16 indicator of the poor prognosis.

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Figure 3. study.

Pulmonary regurgitation on Doppler flow

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PRENATAL DIAGNOSIS OF TETRALOGY OF FALLOT/Callan, Kan

3. Reed KL, Sahn DJ: A proposal for referral patterns for fetal cardiac studies. Semin Ultrasound CT MR 5:249-252, 1984 Emmanouilides GC, Baylen BG: Congenital absence of the pulmonary valve In Adams FH, Emmanouilides GC (eds.): Heart Disease in Infants, Children and Adolescents,

4.

3rd ed. Baltimore: Williams & Wilkins, 1983, pp. 228-234 Emmanouilides GC, Thanopoulos B, Siass B, Fishbein M: "Agenesis" of ductus arteriosus associated with the syndrome of tetralogy of Fallot and absent pulmonary valve, Am J Cardiol 37:403-409, 1976 Rabinovich M, Grady S, David I, et al: Compression of intrapulmonary bronchi by abnormally branching pulmonary arteries associated with absent pulmonary valves. Am J Cardiol 50:804—813, 1982

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REFERENCES

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Prenatal diagnosis of tetralogy of Fallot with absent pulmonary valve.

Multiple indications for fetal echocardiography have been proposed that includes polyhydramnios. In this report, the prenatal diagnosis of tetralogy o...
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