Supravalvar aortic stenosis
- David W Brown, MD
David W Brown, MD
- Associate Professor of Pediatrics
- Harvard Medical School
Left ventricular outflow tract (LVOT) obstructive lesions account for approximately 6 percent of cases of congenital heart disease in children; in one series, the incidence was estimated to be 6 in 10,000 live births [1,2]. Obstruction can occur at valvar (by far the most common), subvalvar, and supravalvar levels.
Supravalvar aortic stenosis will be reviewed here. Valvar and subvalvar aortic stenosis are discussed separately. (See "Valvar aortic stenosis in children" and "Subvalvar aortic stenosis (subaortic stenosis)".)
SUPRAVALVAR AORTIC STENOSIS
Supravalvar aortic stenosis (AS) is the least common form of left ventricular outflow tract (LVOT) obstruction. Among children with congenital AS, supravalvar AS has accounted for 8 to 14 percent of cases [2,3].
Anatomy — There are at least two anatomic forms of supravalvar AS. The majority of patients (60 to 75 percent) have an hourglass deformity, consisting of a discrete constriction of a thickened ascending aorta at the superior aspect of the sinuses of Valsalva (image 1) [4,5]. More diffuse narrowing for a variable distance along the ascending aorta is seen in 25 to 40 percent. There are also rare reports of a discrete membranous stenosis, which may be a variant of the hourglass deformity .
The major histologic features of the ascending aorta in supravalvar AS are a thickened and dysplastic media with an increased number of hypertrophied smooth muscle cells, increased collagen content, and a paucity of elastic tissue with disorganized elastin fibers [7,8]. Further support for an abnormality in elastin is the high frequency of supravalvar AS in patients with Williams syndrome, which is due to a mutation in the elastin gene (see 'Etiology' below). Supravalvar AS in these patients has been characterized as one manifestation of an elastin arteriopathy.
- Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002; 39:1890.
- Kitchiner D, Jackson M, Malaiya N, et al. Incidence and prognosis of obstruction of the left ventricular outflow tract in Liverpool (1960-91): a study of 313 patients. Br Heart J 1994; 71:588.
- Liu CW, Hwang B, Lee BC, et al. Aortic stenosis in children: 19-year experience. Zhonghua Yi Xue Za Zhi (Taipei) 1997; 59:107.
- Flaker G, Teske D, Kilman J, et al. Supravalvular aortic stenosis. A 20-year clinical perspective and experience with patch aortoplasty. Am J Cardiol 1983; 51:256.
- Keane JF, Fellows KE, LaFarge CG, et al. The surgical management of discrete and diffuse supravalvar aortic stenosis. Circulation 1976; 54:112.
- Latson LA. Aortic stenosis: valvar, supravalvar, and fibromuscular subvalvar. In: The Science and Practice of Pediatric Cardiology, Garson A, Bricker JT, Fisher DJ, Neish SR (Eds), Williams and Wilkins, Baltimore 1998. p.1257.
- Stamm C, Friehs I, Ho SY, et al. Congenital supravalvar aortic stenosis: a simple lesion? Eur J Cardiothorac Surg 2001; 19:195.
- Vaideeswar P, Shankar V, Deshpande JR, et al. Pathology of the diffuse variant of supravalvar aortic stenosis. Cardiovasc Pathol 2001; 10:33.
- Stamm C, Li J, Ho SY, et al. The aortic root in supravalvular aortic stenosis: the potential surgical relevance of morphologic findings. J Thorac Cardiovasc Surg 1997; 114:16.
- McElhinney DB, Petrossian E, Tworetzky W, et al. Issues and outcomes in the management of supravalvar aortic stenosis. Ann Thorac Surg 2000; 69:562.
- Thistlethwaite PA, Madani MM, Kriett JM, et al. Surgical management of congenital obstruction of the left main coronary artery with supravalvular aortic stenosis. J Thorac Cardiovasc Surg 2000; 120:1040.
- Eronen M, Peippo M, Hiippala A, et al. Cardiovascular manifestations in 75 patients with Williams syndrome. J Med Genet 2002; 39:554.
- Wren C, Oslizlok P, Bull C. Natural history of supravalvular aortic stenosis and pulmonary artery stenosis. J Am Coll Cardiol 1990; 15:1625.
- 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.
- Vincent WR, Buckberg GD, Hoffman JI. Left ventricular subendocardial ischemia in severe valvar and supravalvar aortic stenosis. A common mechanism. Circulation 1974; 49:326.
- 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.
- French JW, Guntheroth WG. An explanation of asymmetric upper extremity blood pressures in supravalvular aortic stenosis: the Coanda effect. Circulation 1970; 42:31.
- Morris CA. Genetic aspects of supravalvular aortic stenosis. Curr Opin Cardiol 1998; 13:214.
- Pham PP, Moller JH, Hills C, et al. Cardiac catheterization and operative outcomes from a multicenter consortium for children with williams syndrome. Pediatr Cardiol 2009; 30:9.
- Schmidt MA, Ensing GJ, Michels VV, et al. Autosomal dominant supravalvular aortic stenosis: large three-generation family. Am J Med Genet 1989; 32:384.
- Kumar A, Stalker HJ, Williams CA. Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: a form of arterial dysplasia. Am J Med Genet 1993; 45:739.
- Brook GJ, Keidar S, Boulos M, et al. Familial homozygous hypercholesterolemia: clinical and cardiovascular features in 18 patients. Clin Cardiol 1989; 12:333.
- Summers RM, Andrasko-Bourgeois J, Feuerstein IM, et al. Evaluation of the aortic root by MRI: insights from patients with homozygous familial hypercholesterolemia. Circulation 1998; 98:509.
- Rallidis L, Naoumova RP, Thompson GR, Nihoyannopoulos P. Extent and severity of atherosclerotic involvement of the aortic valve and root in familial hypercholesterolaemia. Heart 1998; 80:583.
- Curran ME, Atkinson DL, Ewart AK, et al. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 1993; 73:159.
- Metcalfe K, Rucka AK, Smoot L, et al. Elastin: mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet 2000; 8:955.
- Morris CA, Mervis CB. Williams syndrome and related disorders. Annu Rev Genomics Hum Genet 2000; 1:461.
- Ewart AK, Jin W, Atkinson D, et al. Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J Clin Invest 1994; 93:1071.
- Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993; 5:11.
- Meng X, Lu X, Li Z, et al. Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. Hum Genet 1998; 103:590.
- Tassabehji M, Metcalfe K, Fergusson WD, et al. LIM-kinase deleted in Williams syndrome. Nat Genet 1996; 13:272.
- Frangiskakis JM, Ewart AK, Morris CA, et al. LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell 1996; 86:59.
- Jones KL, Smith DW. The Williams elfin facies syndrome. A new perspective. J Pediatr 1975; 86:718.
- Pagon RA, Bennett FC, LaVeck B, et al. Williams syndrome: features in late childhood and adolescence. Pediatrics 1987; 80:85.
- Keating MT. Genetic approaches to cardiovascular disease. Supravalvular aortic stenosis, Williams syndrome, and long-QT syndrome. Circulation 1995; 92:142.
- McCarty HM, Tang X, Swearingen CJ, Collins RT 2nd. Comparison of electrocardiographic QTc duration in patients with supravalvar aortic stenosis with versus without Williams syndrome. Am J Cardiol 2013; 111:1501.
- Sharma BK, Fujiwara H, Hallman GL, et al. Supravalvar aortic stenosis: a 29-year review of surgical experience. Ann Thorac Surg 1991; 51:1031.
- Brown JW, Ruzmetov M, Vijay P, Turrentine MW. Surgical repair of congenital supravalvular aortic stenosis in children. Eur J Cardiothorac Surg 2002; 21:50.
- Tani LY, Minich LL, Pagotto LT, Shaddy RE. Usefulness of doppler echocardiography to determine the timing of surgery for supravalvar aortic stenosis. Am J Cardiol 2000; 86:114.
- Boxer RA, Fishman MC, LaCorte MA, et al. Diagnosis and postoperative evaluation of supravalvular aortic stenosis by magnetic resonance imaging. Am J Cardiol 1986; 58:367.
- Stamm C, Kreutzer C, Zurakowski D, et al. Forty-one years of surgical experience with congenital supravalvular aortic stenosis. J Thorac Cardiovasc Surg 1999; 118:874.
- Wessel A, Pankau R, Kececioglu D, et al. Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome. Am J Med Genet 1994; 52:297.
- Greutmann M, Tobler D, Sharma NC, et al. Cardiac outcomes in adults with supravalvar aortic stenosis. Eur Heart J 2012; 33:2442.
- Obstruction of the left ventricular outflow tract. In: Cardiac Surgery of the Neonate and Infant, Jonas RA, Mayer JE, Hanley FL (Eds), WB Saunders, Philadelphia 1994. p.315.
- van Son JA, Danielson GK, Puga FJ, et al. Supravalvular aortic stenosis. Long-term results of surgical treatment. J Thorac Cardiovasc Surg 1994; 107:103.
- Deo SV, Burkhart HM, Schaff HV, et al. Late outcomes for surgical repair of supravalvar aortic stenosis. Ann Thorac Surg 2012; 94:854.
- Fricke TA, d'Udekem Y, Brizard CP, et al. Surgical repair of supravalvular aortic stenosis in children with williams syndrome: a 30-year experience. Ann Thorac Surg 2015; 99:1335.