Oct 20, 2015 - suspected congenital heart disease, and inability to visualize the aortic arch clearly on the obstetric u
Images in Cardiovascular Medicine Prenatal Diagnosis and Management of Berry Syndrome, a Rare Conotruncal Anatomy Sunil J. Ghelani, MD; Luis G. Quinonez, MD; Rahul H. Rathod, MD
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erry 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-forgestational-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.
Disclosures None.
References 1. Berry TE, Bharati S, Muster AJ, Idriss FS, Santucci B, Lev M, Paul MH. Distal aortopulmonary septal defect, aortic origin of the right pulmonary artery, intact ventricular septum, patent ductus arteriosus and hypoplasia of the aortic isthmus: a newly recognized syndrome. Am J Cardiol. 1982;49:108–116. 2. Matsubara Y, Ota M, Bito A, Katayama T, Matsubara K, Ito M. Prenatal diagnosis of Berry syndrome by fetal echocardiography. Ultrasound Obstet Gynecol. 2010;35:374–376. doi: 10.1002/uog.7565. 3. Sharma J, Saleh M, Das BB. Berry syndrome with trisomy 13. Pediatr Cardiol. 2002;23:205–209. doi: 10.1007/s00246-001-0048-5. 4. Boonstra PW, Talsma M, Ebels T. Interruption of the aortic arch, distal aortopulmonary window, arterial duct and aortic origin of the right pulmonary artery in a neonate: report of a case successfully repaired in a one-stage operation. Int J Cardiol. 1992;34:108–110.
From Departments of Cardiology (S.J.G., R.H.R.) and Cardiac Surgery (L.G.Q.), Boston Children’s Hospital, MA. The online-only Data Supplement is available with this article at http://circ.ahajournals.org/lookup/suppl/doi:10.1161/CIRCULATIONAHA. 115.017366/-/DC1. Correspondence to Rahul H. Rathod, MD, Department of Cardiology, Boston Children’s Hospital, 300 Longwood Ave, Boston, MA 02115. E-mail
[email protected] (Circulation. 2015;132:1593-1594. DOI: 10.1161/CIRCULATIONAHA.115.017366.) © 2015 American Heart Association, Inc. Circulation is available at http://circ.ahajournals.org
DOI: 10.1161/CIRCULATIONAHA.115.017366
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1594 Circulation October 20, 2015
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Figure. A, Prenatal echocardiogram (Echo). Top, The aorta (Ao) and the main pulmonary artery (MPA) in the long-axis view with a large defect between them. Middle, Short-axis image showing again that the aorta and MPA are normally related to each other and that there is a large communication between the 2 great vessels. The left pulmonary artery (LPA) arises normally from the MPA, but the right pulmonary artery (RPA) arises from the aorta. Bottom, The MPA gives rise to the ductal arch and the LPA underneath. B, Postnatal echocardiogram images confirm the fetal diagnosis. Images are arranged side-by-side and in an orientation similar to that of the prenatal images. C, Part of the surgical repair included closure of the aortopulmonary window (APW) to permit communication between the MPA and RPA (longer dashed line) and aortic root enlargement with a patch (short dashed line). D, Postsurgery discharge echocardiogram. Top, Absence of residual aortopulmonary communication and mild RPA stenosis. Bottom, Unobstructed aortic arch (Arch). Duct indicates ductus arteriosus; and SVC, superior vena cava.
Prenatal Diagnosis and Management of Berry Syndrome, a Rare Conotruncal Anatomy Sunil J. Ghelani, Luis G. Quinonez and Rahul H. Rathod Circulation. 2015;132:1593-1594 doi: 10.1161/CIRCULATIONAHA.115.017366 Downloaded from http://circ.ahajournals.org/ by guest on May 1, 2018
Circulation is published by the American Heart Association, 7272 Greenville Avenue, Dallas, TX 75231 Copyright © 2015 American Heart Association, Inc. All rights reserved. Print ISSN: 0009-7322. Online ISSN: 1524-4539
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Data Supplement (unedited) at: http://circ.ahajournals.org/content/suppl/2015/10/19/CIRCULATIONAHA.115.017366.DC1
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Movie Legend
Movie 1. Annotated series of clips from prenatal, postnatal and post-operative echocardiograms demonstrating key anatomic features. Abbreviations: MPA: main pulmonary artery, APW: aortopulmonary window, RPA: right pulmonary artery, LPA: left pulmonary artery. Duct: ductus arteriosus, PDA: patent ductus arteriosus. Best viewed with Windows Media Player.
