A case report of rapid progressive coarctation and severe middle aortic syndrome in an infant with Williams syndrome.
Williams syndrome is a genetic disorder caused by multiple contiguous gene deletions in chromosome 7. Presentation in early life is most often a result of luminal stenosis of right- and left-sided arterial vasculature. We report the case of a newborn infant who had a rapidly progressing diffuse form of arteriopathy that required two surgeries and one percutaneous balloon dilation within the first 2 months of her life.
Hall
E Kevin
EK
Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pa 19104, USA. halle@email.chop.edu
Glatz
Jenifer
J
Kaplan
Paige
P
Kaplan
Bernard S
BS
Hellinger
Jeffrey
J
Ernst
Linda
L
Gaynor
J William
JW
D000800:Angioplasty, Balloon; D001017:Aortic Coarctation / Q000175:diagnosis / Q000235:genetics / Q000601:surgery / Q000628:therapy*; D001018:Aortic Diseases / Q000175:diagnosis / Q000235:genetics / Q000601:surgery / Q000628:therapy*; D001157:Arterial Occlusive Diseases / Q000175:diagnosis / Q000235:genetics / Q000601:surgery / Q000628:therapy*; D003251:Constriction, Pathologic; D018450:Disease Progression; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012720:Severity of Illness Index; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D014656:Vascular Surgical Procedures; D018980:Williams Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy