Clinicopathologic findings in congenital aneurysms of the great vessels
Corresponding Author
Lesley C. Adès
Department of Medical Genetics and Epidemiology, Center for Medical Genetics, Department of Cardiology, and Department of Histopathology, Women's and Children's Hospital, King William Road, North Adelaide SA
Department of Medical Genetics and Epidemiology, Center for Medical Genetics, Women's and Children's Hospital, 72 King William Road, North Adelaide S.A. 5006, AustraliaSearch for more papers by this authorWilliam B. Knight
Department of Medical Genetics and Epidemiology, Center for Medical Genetics, Department of Cardiology, and Department of Histopathology, Women's and Children's Hospital, King William Road, North Adelaide SA
Search for more papers by this authorRoger W. Byard
Department of Medical Genetics and Epidemiology, Center for Medical Genetics, Department of Cardiology, and Department of Histopathology, Women's and Children's Hospital, King William Road, North Adelaide SA
Search for more papers by this authorJohn F. Bateman
Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville Victoria, Australia
Search for more papers by this authorJ. Anthony Desouza Esquivel
Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville Victoria, Australia
Search for more papers by this authorEric A. Haan
Department of Medical Genetics and Epidemiology, Center for Medical Genetics, Department of Cardiology, and Department of Histopathology, Women's and Children's Hospital, King William Road, North Adelaide SA
Search for more papers by this authorDianna M. Milewicz
The University of Texas Health Science Center at Houston, Houston
Search for more papers by this authorCorresponding Author
Lesley C. Adès
Department of Medical Genetics and Epidemiology, Center for Medical Genetics, Department of Cardiology, and Department of Histopathology, Women's and Children's Hospital, King William Road, North Adelaide SA
Department of Medical Genetics and Epidemiology, Center for Medical Genetics, Women's and Children's Hospital, 72 King William Road, North Adelaide S.A. 5006, AustraliaSearch for more papers by this authorWilliam B. Knight
Department of Medical Genetics and Epidemiology, Center for Medical Genetics, Department of Cardiology, and Department of Histopathology, Women's and Children's Hospital, King William Road, North Adelaide SA
Search for more papers by this authorRoger W. Byard
Department of Medical Genetics and Epidemiology, Center for Medical Genetics, Department of Cardiology, and Department of Histopathology, Women's and Children's Hospital, King William Road, North Adelaide SA
Search for more papers by this authorJohn F. Bateman
Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville Victoria, Australia
Search for more papers by this authorJ. Anthony Desouza Esquivel
Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville Victoria, Australia
Search for more papers by this authorEric A. Haan
Department of Medical Genetics and Epidemiology, Center for Medical Genetics, Department of Cardiology, and Department of Histopathology, Women's and Children's Hospital, King William Road, North Adelaide SA
Search for more papers by this authorDianna M. Milewicz
The University of Texas Health Science Center at Houston, Houston
Search for more papers by this authorAbstract
We describe the clinical, histopathologic, and angiographic findings in four children with congenital abnormalities of the great vessels of unknown cause, comprising either single or multiple arterial aneurysms, aortic/arterial dilatation, vessel tortuosity, or combinations of these abnormalities. Two children had early and severe respiratory distress due to aneurysmal compression of the trachea. All children had diffuse dilatation of several arteries, and two children also had tortuosity of multiple arteries. Progression of these abnormalities was clearly evident in one child, in whom diffuse vessel irregularity and tortuosity affected intra-abdominal, and intra and extra-cranial arteries. One child died at 5 years, while the other three have undergone successful surgical repair in the first 3 months of life and are now well, between age 2.5 and 7 years. The phenotype of each child appears unique but all have in common the rare finding of aneurysms of the aorta and main pulmonary artery. Congenital aortic aneurysms did not occur as an isolated finding in any of these children. © 1996 Wiley-Liss, Inc.
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