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Natural course of supravalvar aortic stenosis and peripheral pulmonary arterial stenosis in Williams‘ syndrome

Published online by Cambridge University Press:  19 August 2008

Yang Min Kim ,
Shi-Joon Yoo ,
Jung Yun Choi ,
Seong Ho Kim ,
Eun Jung Bae  and
Young Tak Lee
Yang Min Kim*
Affiliation:
Departments of RadiologySejong Heart Institute, Kyunggi-do
Shi-Joon Yoo
Affiliation:
Departments of RadiologySejong Heart Institute, Kyunggi-do
Jung Yun Choi
Affiliation:
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea
Seong Ho Kim
Affiliation:
Departments of PediatricsSejong Heart Institute, Kyunggi-do
Eun Jung Bae
Affiliation:
Departments of PediatricsSejong Heart Institute, Kyunggi-do
Young Tak Lee
Affiliation:
Departments of Thoracic and Cardiovascular SugerySejong Heart Institute, Kyunggi-do
*
Address correspondence to: Yang Min Kim, M.D. Department of Radiology, Sejong General Hospital, 91-121 Sosa-dong, Sosa-gu, Pucheon, Kyunggi-do 422-232 Korea. Tel: (82-32) 340-1171, 1175; Fax number: (82-32) 349-3005
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Abstract

We investigated the catheterization and angiographic findings of 26 patients with Williams‘ syndrome to evaluate the natural course of supravalvar aortic stenosis and peripheral pulmonary arterial stenosis. The severity of the stenosis was correlated with age and body surface area in terms of the pulmonary arterial index, right ventricular systolic pressure, sinutubular ratio(ratio of measured to mean normal diameter of sinutubular junction), and systolic pressure gradient across the sinutubular junction. In patients with pulmonary arterial stenosis (n=20), right ventricular systolic pressure tended to decrease, and pulmonary arterial index increased, with increase in age and body surface area. Between the groups with and without pulmonary arterial stenosis, there was significant difference in age (mean 4.70 vs. 9.87, p = 0.019), body surface area (0.62 vs. 1.16, p = 0.002), pulmonary arterial index (152 vs. 317, p=0.002) and right ventricular systolic pressure (73.9 vs. 33.0, p=0.006). As all patients showed similar diameters at the sinutubular junction regardless of age and body size, sinutubular ratio decreased with increases in age and body surface area. The group with abnormal coronary arteries (n = 7) had smaller sinutubular ratio (0.46 vs. 0.61, p=0.021) and higher pressure gradients between the left ventricle and the aorta (67.6 vs. 42.2, p=0.023) than did the group with normal coronary arteries. Stenosis of a coronary artery, or a branch of the aortic arch, was observed only in three patients with diffuse aortic stenosis.

Our results suggest that, with time, peripheral pulmonary arterial stenosis tends to improve, and supravalvar aortic stenosis to progress. Failure of growth of the sinutubular junction might be responsible for the progression of the aortic lesion. Progression of the aortic lesion may be associated with involvement of the coronary arteries.

Keywords

Williams‘ syndromesupravalvar aortic stenosisperipheral pulmonary arterial stenosisangiography
Type
Original Articles
Information
Cardiology in the Young , Volume 9 , Issue 1 , January 1999 , pp. 37 - 41
Copyright
Copyright © Cambridge University Press 1999

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References

1.Williams, JCP, Barratt-Boyes, BG, Lowe, JB.Supravalvular aortic stenosis. Circulation 1961; 24: 1311–1318.CrossRefGoogle ScholarPubMed
2.Beuren, AJ, Apitz, J, Harmjanz, D.Supravalvular aortic stenosis in association with mental retardation and certain facial appearance Circulation 1962; 26: 1235–1240.Google Scholar
3.Beuren, AJ, Schulze, C, Eberle, P, Harmjanz, D, Apitz, J.The syndrome of Supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation and similar facial appearance. Am J Cardiol 1964; 13: 471–483.CrossRefGoogle ScholarPubMed
4.Keating, MT.Genetic approaches to cardiovascular disease: Supravalvular aortic stenosis, Williams syndrome, and long- QT syndrome. Circulation 1995; 92: 142–147.CrossRefGoogle ScholarPubMed
5.Dutly, F, Schinzel, A.Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams Beuren syndrome. Hum Mol Genet 1996; 5(12): 1893–1898.CrossRefGoogle ScholarPubMed
6.Ligon, AH, Beaudet, AL, Shaffer, LG.Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of development delay and mental retardation. Am J Hum Genet 1997; 61(1): 51–59.CrossRefGoogle ScholarPubMed
7.Giddins, NG, Finley, JP, Nanton, MA, Roy, DL.The natural course of supravalvar aortic stenosis and peripheral pulmonary artery stenosis in Williams–s syndrome. Br Heart J 1989; 62: 315–319.CrossRefGoogle ScholarPubMed
8.Wren, C, Oslizlok, P, Bull, C.Natural history of Supravalvular aortic stenosis and pulmonary artery stenosis. J Am Coll Cardiol 1990; 15: 1625–1630.CrossRefGoogle ScholarPubMed
9.Zalzstein, E, Moes, CAF, Musewe, NN, Freedom, RM.Spectrum of cardiovascular anomalies in Williams-Beuren syndrome. Pediatr Cardiol 1991; 12: 219–223.CrossRefGoogle ScholarPubMed
10.Kececioglu, D, Kottohoff, S, Vogt, J.Williams-Beuren syndrome: A 30-year follow-up of natural and postoperative course. Eur Heart J 1993; 14: 1458–1464.CrossRefGoogle ScholarPubMed
11.Wessel, A, Pankau, R, Kececiogly, D, Ruschewski, W, Bursch, JH.Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome Am J Med Genet 1994; 52: 297–301.Google Scholar
12.Sievers, HH, Onnasch, DGW, Lange, PE, Bernhard, A, Heintzen, PH.Dimensions of the great arteries, semilunar valve roots, and right ventricular outflow tract during growth: normative angiocardiographic data. Pediatr Cardiol 1983; 4: 189–196.CrossRefGoogle ScholarPubMed
13.Stamm, C, Li, J, Ho, SY, Redington, AN, Anderson, RH.The aortic root in Supravalvular aortic stenosis: The potential surgical relevance of morphologic findings. J Thorac Cardiovasc Surg 1997; 114: 16–24.CrossRefGoogle ScholarPubMed
14.Van Son, JA, Edwards, WD, Danielson, GK. Pathology of coronary arteries, myocardium, and great arteries in Supravalvular aortic stenosis. Report of five cases with implications for surgical treatment. J Thorac Cardiovasc Surg 1994; 108: 21–28.CrossRefGoogle ScholarPubMed