Prenatal Diagnosis and Management of Berry Syndrome, a Rare Conotruncal Anatomy
Berry syndrome is a rare cardiac malformation made up of aortopulmonary window, interrupted aortic arch, aortic origin of right pulmonary artery, and intact interventricular septum.1 Prenatal diagnosis has the potential to improve outcomes with prompt initiation of prostaglandin E1 infusion and early surgery, thereby avoiding pulmonary overcirculation and heart failure.
A 26-year-old primigravida presented to the fetal cardiology clinic at 23 weeks’ gestation with a diagnosis of vasa previa, suspected congenital heart disease, and inability to visualize the aortic arch clearly on the obstetric ultrasound. A fetal echocardiogram at 25 weeks’ gestation demonstrated the constellation of Berry syndrome (Figure, A and Movie I in the online-only Data Supplement). The mother delivered a 2-kg female infant at 35 weeks as a result of premature rupture of membranes in the setting of maternal vasa previa.
Fetal diagnosis was confirmed with a postnatal echocardiogram (Figure, B). The infant developed severe lung disease requiring high-frequency jet ventilation within the first 2 days of life, and surgical pulmonary artery bands were placed at 36 hours of life to control pulmonary blood flow. Her ventilation status improved, and a definitive surgical repair was performed at 13 days of age. The operation consisted of ligation and division of the ductus arteriosus; aortic arch reconstruction; removal of pulmonary artery bands; division of the aortopulmonary window, leaving the right pulmonary artery and main pulmonary artery in posterior continuity; patch reconstruction of the pulmonary arteries; and patch reconstruction of the aortic root (Figure, C). The patient was returned to the cardiac intensive care unit with an open chest, which was closed on postoperative day 4. She was discharged home on postoperative day 20, with an echocardiogram showing mild right pulmonary artery stenosis with a maximum instantaneous gradient of 25 mm Hg, no residual aortopulmonary window, and unobstructed aortic arch (Figure, D). She was doing well at her most recent 3-month follow-up clinic visit.
A review of the literature revealed 1 prior case report of successful prenatal diagnosis of this condition by echocardiography from Japan.2 Thirty-two postnatal diagnoses have been reported, of which 6 were autopsy based.3 Median age at diagnosis was 8 days (range, 0 days–35 months). A single stage repair was performed in 20 of 26 patients (77%) at a median age of 14 days; the rest were staged.4 Three in-hospital deaths were reported. Medium and long-term follow-up is not known.
Fetal diagnosis of Berry syndrome is challenging but feasible. On the basis of our anecdotal experience, a staged repair should be considered in premature infants or small-for-gestational-age infants. The majority of reported patients had good short-term survival, and we anticipate long-term complications to be related to pulmonary artery stenosis or aortic arch obstruction.
The online-only Data Supplement is available with this article at http://circ.ahajournals.org/lookup/suppl/doi:10.1161/CIRCULATIONAHA.115.017366/-/DC1.
- © 2015 American Heart Association, Inc.
- Berry TE,
- Bharati S,
- Muster AJ,
- Idriss FS,
- Santucci B,
- Lev M,
- Paul MH