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Rapid progression of long-segment coarctation in a patient with Williams' syndrome

Published online by Cambridge University Press:  03 May 2005

Cammon Arrington ,
Martin Tristani-Firouzi  and
Michael Puchalski
Cammon Arrington
Affiliation:
University of Utah, Department of Pediatric Cardiology, Salt Lake City, Utah, United States of America
Martin Tristani-Firouzi
Affiliation:
University of Utah, Department of Pediatric Cardiology, Salt Lake City, Utah, United States of America
Michael Puchalski
Affiliation:
University of Utah, Department of Pediatric Cardiology, Salt Lake City, Utah, United States of America
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Abstract

Over a period of 6 days, a three-week-old male developed a long-segment coarctation, with sub-total obstruction of the descending aorta, immediately distal to the left subclavian artery. On the 24th day of life, the stenotic region was repaired by placement of a pulmonary allograft patch measuring 3 centimetres in length. Severe diffuse vascular medial thickening was discovered at the operation. Subsequent fluorescence in-situ hybridization proved positive for Williams' syndrome. To our knowledge, this is the first report of rapidly progressive infantile arteriopathy in the setting of Williams' syndrome.

Keywords

Supravalvar aortic stenosiselastinneonategenetics
Type
Brief Report
Information
Cardiology in the Young , Volume 15 , Issue 3 , June 2005 , pp. 312 - 314
Copyright
© 2005 Cambridge University Press

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References

Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL. The natural history of Williams syndrome: physical characteristics. J Pediatr 1988; 113: 318–326.Google Scholar
Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993; 5: 11–16.Google Scholar
O'Connor WN, Davis JB Jr, Geissler R, Cottrill CM, Noonan JA, Todd EP. Supravalvular aortic stenosis: clinical and pathological observations in six patients. Arch Pathol Lab Med 1985; 109: 179–185.Google Scholar
Rein AJ, Preminger TJ, Perry SB, Lock JE, Sanders SP. Generalized arteriopathy in Williams syndrome: an intravascular ultrasound study. J Am Coll Cardiol 1993; 21: 1727–1730.Google Scholar
Eronen M, Peippo M, Hiippala A, et al. Cardiovascular manifestations in 75 patients with Williams syndrome. J Med Genet 2002; 39: 554–558.Google Scholar
Radford DJ, Pohlner PG. The middle aortic syndrome: an important feature of Williams' syndrome. Cardiol Young 2000; 10: 597–602.Google Scholar
Daniels SR, Loggie JMH, Schwartz DC, Strife JL, Kaplan S. Systemic hypertension secondary to peripheral vascular anomalies in patients with Williams' syndrome. J Pediatr 1985; 106: 249–251.Google Scholar
Giddins NG, Finley JP, Nanton MA, Roy DL. The natural course of supravalvar aortic stenosis and periphal pulmonary artery stenosis in Williams' syndrome. Br Heart J 1989; 62: 315–319.Google Scholar
Kim YM, Yoo SJ, Choi JY, Kim SH, Bae EJ, Lee YT. Natural course of supravalvar aortic stenosis and peripheral pulmonary arterial stenosis in Williams' syndrome. Cardiol Young 1999; 9: 37–41.Google Scholar
Ino T, Nishimoto K, Iwahara M, et al. Progressive vascular lesions in Williams-Beuren syndrome. Pediatr Cardiol 1988; 9: 55–58.Google Scholar