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Supravalvular aortic stenosis in cutis laxa syndrome: a case report
International Journal of Cardiology 83 (2002) 167–168 www.elsevier.com / locate / ijcard
Letter to the Editor
Supravalvular aortic stenosis in cutis laxa syndrome: a case report Firat Kardelen*, Gayaz Akcurin, Halil Ertug, Sukran Tacoy, Akif Ciftcioglu Akdeniz University Medicine Faculty, Department of Pediatric Cardiology, Antalya, Turkey Received 21 October 2001; received in revised form 14 January 2002; accepted 23 January 2002
1. Introduction Supravalvular aortic stenosis (SVAS) is produced by an abrupt narrowing in the ascending aorta immediately distal to the aortic valve. Cutis laxa is a rare disorder of the connective tissue. It may be hereditary or acquired and from the genetical viewpoint, can be either of the dominant or of the recessive type [1–4]. We report a female patient, who was born with congenital cutis laxa characterized by cutaneous laxity and premature aging due to the degeneration of elastic fibers, presented with supravalvular aortic stenosis. This is the first case in literature.
2. Case report A 9-year-old girl was admitted to our hospital with complaint of aged appearance face and body. Height and weight were both at the 50–75th percentile. She had a III / VI systolic murmur at the left sternal border and right second intercostal space. Palpable thrill was present in suprasternal notch. The two brothers also have similar senyl appearance. But, all other members of family are normal appearance. The electrocardiogram demonstrated left ventricular hypertrophy. Chest X-ray was normal. The two*Corresponding author. Tel.: 190-242-2274-343; fax: 190-242-2274490. E-mail address: [email protected] (F. Kardelen).
dimensional echocardiography showed a supravalvular stenosis and mild thickening of the left ventricular wall. The continuous wave Doppler echocardiography demonstrated 144 mm Hg gradient and the absence of aortic regurgitation. On cardiac catheterization, pressures were as follows: left ventricle 280 / 0–20, aorta below the stenosis 160 / 110 mm Hg, beyond the stenosis and descending aorta 100 / 60 mm Hg. Left ventriculography and aortography revealed intact interventricular septum and supravalvular aortic stenosis as the hour-glass deformity above the sinuses of Valsalva. No aortic regurgitation was present. In digital substraction angiography, brachiocephalic artery and left carotid artery originates from the same root and there was minimal stenosis in the proximal of both artery (Fig. 1). There was minimal tortuousity in right coronary artery on selective coronary angiography. Skin biopsy was performed. The skin tissue was fixed in 10% formaline and sections were stained with hematoxylene eosine and Verhoeff’s elastic stain. In the sample obtained from the skin, the elastic fibers were diminished either throughout the dermis and their borders were indistinct. There were not inflammatory changes.
3. Discussion Supravalvular aortic stenosis may present either as a sporadic disease or inherited condition [5,6].The lesion involves the ascending aorta and may often be
0167-5273 / 02 / $ – see front matter 2002 Elsevier Science Ireland Ltd. All rights reserved. PII: S0167-5273( 02 )00028-1
168
F. Kardelen et al. / International Journal of Cardiology 83 (2002) 167 – 168
Fig. 1. Digital substraction angiography showed supravalvular aortic stenosis as the hourglass deformity and minimal stenosis of brachiocephalic artery and left carotid that originates from the same root.
observed with associated pulmonary arterial nnovates or stenoses of other arteries, especially at major branch points. The onset and severity of disease varies but, if untreated, may result in heart failure, myocardial infarction, and death. The diagnosis of SVAS can be made in many patients by noninvasive cross-sectional and color Doppler flow echocardiography. Cardiac catheterization is usually performed to assess the degree of obstruction before surgical repair is undertaken. Cutis laxa is a relatively rare connective tissue disease characterized by genetic heterogeneity and clinical variability. In all cases, the primary diagnostic feature is loose, hyperextensible skin with decreased negligence and elasticity, leading to a premature aged appearance. The skin changes are often accompanied by extracutaneous manifestations, including pulmonary emphysema, bladder diverticula, pulmonary artery stenosis, and pyloric stenosis. It may be hereditary or acquired and it can be either of the dominant or of the recessive type [1,2]. The major histopathologic feature of cutis laxa is a loss of elastic fibers in the dermis. The fibers that
persist appear fragmented and granular and are associated with deposits of acid mucopolysaccharides. Similar defects in elastin involve the lung, aorta, and subcutaneous blood vessels. Histological examination of the skin in our patient reveals marked fragmentation or diminution of elastic fibers [3]. Rybojad reported five children with a morphotype compatible with congenital generalized cutis laxa [4]. Three of the cases have had severe multiple malformative findings with facial dysmorphism, growth retardation, unexplained digestive disorders and psychomotor retardation. There was neither other dysmorphic feature nor pulmonary emphysema in our patient. Bonnet et al. retrospectively studied atrioventricular valve dysplasia in 22 newborn infants. One of the dysmorphic patients who had pulmonary trunk dilation, and sign of mitral regurgitation, tricuspid regurgitation and trivial aortic regurgitation was diagnosed as cutis laxa [7]. This is the first patient with congenital cutis laxa presented with supravalvular aortic stenosis. We think autosomal recessive inheritance with variable expression since her brothers haven’t cardiac abnormality.
References [1] Beighton P. The dominant and recessive forms of cutis laxa. J Med Genet 1972;9:216. [2] Patton MA, Tolmie J, Ruthnum P. Congenital cutis laxa with retardation of growth and development. J Med Genet 1987;24:556. [3] Marchase P, Holbrook K, Pinnell SR. A familial cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin. J Invest Dermatol 1980;75:399. [4] Rybojad M, Baumann C, Godeau G, Moraillon I, Prigent F, Morel P, Bourrat E. Congenital generalized cutis laxa: five cases. Ann Dermatol Venereol 1999;126:317–9. [5] Williams JCP, Beurat Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation 1961;24:1311–8. [6] Rastelli GC, McGoon DC, Ongley PA, Mankin HT, Kirklin JW. Surgical treatment of supravalvular aortic stenosis: report of 16 cases and review of the literature. J Thorac Cardiovasc Surg 1996;5:873–82. [7] Bonnet D, Saygili A, Bonhoeffer P, Fermont L, Sidi D, Kachaner J. Atrio-ventricular valve dysplasia in 22 newborn infants. Int J Cardiol 1997;59:113–8.
Letter to the Editor
Supravalvular aortic stenosis in cutis laxa syndrome: a case report Firat Kardelen*, Gayaz Akcurin, Halil Ertug, Sukran Tacoy, Akif Ciftcioglu Akdeniz University Medicine Faculty, Department of Pediatric Cardiology, Antalya, Turkey Received 21 October 2001; received in revised form 14 January 2002; accepted 23 January 2002
1. Introduction Supravalvular aortic stenosis (SVAS) is produced by an abrupt narrowing in the ascending aorta immediately distal to the aortic valve. Cutis laxa is a rare disorder of the connective tissue. It may be hereditary or acquired and from the genetical viewpoint, can be either of the dominant or of the recessive type [1–4]. We report a female patient, who was born with congenital cutis laxa characterized by cutaneous laxity and premature aging due to the degeneration of elastic fibers, presented with supravalvular aortic stenosis. This is the first case in literature.
2. Case report A 9-year-old girl was admitted to our hospital with complaint of aged appearance face and body. Height and weight were both at the 50–75th percentile. She had a III / VI systolic murmur at the left sternal border and right second intercostal space. Palpable thrill was present in suprasternal notch. The two brothers also have similar senyl appearance. But, all other members of family are normal appearance. The electrocardiogram demonstrated left ventricular hypertrophy. Chest X-ray was normal. The two*Corresponding author. Tel.: 190-242-2274-343; fax: 190-242-2274490. E-mail address: [email protected] (F. Kardelen).
dimensional echocardiography showed a supravalvular stenosis and mild thickening of the left ventricular wall. The continuous wave Doppler echocardiography demonstrated 144 mm Hg gradient and the absence of aortic regurgitation. On cardiac catheterization, pressures were as follows: left ventricle 280 / 0–20, aorta below the stenosis 160 / 110 mm Hg, beyond the stenosis and descending aorta 100 / 60 mm Hg. Left ventriculography and aortography revealed intact interventricular septum and supravalvular aortic stenosis as the hour-glass deformity above the sinuses of Valsalva. No aortic regurgitation was present. In digital substraction angiography, brachiocephalic artery and left carotid artery originates from the same root and there was minimal stenosis in the proximal of both artery (Fig. 1). There was minimal tortuousity in right coronary artery on selective coronary angiography. Skin biopsy was performed. The skin tissue was fixed in 10% formaline and sections were stained with hematoxylene eosine and Verhoeff’s elastic stain. In the sample obtained from the skin, the elastic fibers were diminished either throughout the dermis and their borders were indistinct. There were not inflammatory changes.
3. Discussion Supravalvular aortic stenosis may present either as a sporadic disease or inherited condition [5,6].The lesion involves the ascending aorta and may often be
0167-5273 / 02 / $ – see front matter 2002 Elsevier Science Ireland Ltd. All rights reserved. PII: S0167-5273( 02 )00028-1
168
F. Kardelen et al. / International Journal of Cardiology 83 (2002) 167 – 168
Fig. 1. Digital substraction angiography showed supravalvular aortic stenosis as the hourglass deformity and minimal stenosis of brachiocephalic artery and left carotid that originates from the same root.
observed with associated pulmonary arterial nnovates or stenoses of other arteries, especially at major branch points. The onset and severity of disease varies but, if untreated, may result in heart failure, myocardial infarction, and death. The diagnosis of SVAS can be made in many patients by noninvasive cross-sectional and color Doppler flow echocardiography. Cardiac catheterization is usually performed to assess the degree of obstruction before surgical repair is undertaken. Cutis laxa is a relatively rare connective tissue disease characterized by genetic heterogeneity and clinical variability. In all cases, the primary diagnostic feature is loose, hyperextensible skin with decreased negligence and elasticity, leading to a premature aged appearance. The skin changes are often accompanied by extracutaneous manifestations, including pulmonary emphysema, bladder diverticula, pulmonary artery stenosis, and pyloric stenosis. It may be hereditary or acquired and it can be either of the dominant or of the recessive type [1,2]. The major histopathologic feature of cutis laxa is a loss of elastic fibers in the dermis. The fibers that
persist appear fragmented and granular and are associated with deposits of acid mucopolysaccharides. Similar defects in elastin involve the lung, aorta, and subcutaneous blood vessels. Histological examination of the skin in our patient reveals marked fragmentation or diminution of elastic fibers [3]. Rybojad reported five children with a morphotype compatible with congenital generalized cutis laxa [4]. Three of the cases have had severe multiple malformative findings with facial dysmorphism, growth retardation, unexplained digestive disorders and psychomotor retardation. There was neither other dysmorphic feature nor pulmonary emphysema in our patient. Bonnet et al. retrospectively studied atrioventricular valve dysplasia in 22 newborn infants. One of the dysmorphic patients who had pulmonary trunk dilation, and sign of mitral regurgitation, tricuspid regurgitation and trivial aortic regurgitation was diagnosed as cutis laxa [7]. This is the first patient with congenital cutis laxa presented with supravalvular aortic stenosis. We think autosomal recessive inheritance with variable expression since her brothers haven’t cardiac abnormality.
References [1] Beighton P. The dominant and recessive forms of cutis laxa. J Med Genet 1972;9:216. [2] Patton MA, Tolmie J, Ruthnum P. Congenital cutis laxa with retardation of growth and development. J Med Genet 1987;24:556. [3] Marchase P, Holbrook K, Pinnell SR. A familial cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin. J Invest Dermatol 1980;75:399. [4] Rybojad M, Baumann C, Godeau G, Moraillon I, Prigent F, Morel P, Bourrat E. Congenital generalized cutis laxa: five cases. Ann Dermatol Venereol 1999;126:317–9. [5] Williams JCP, Beurat Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation 1961;24:1311–8. [6] Rastelli GC, McGoon DC, Ongley PA, Mankin HT, Kirklin JW. Surgical treatment of supravalvular aortic stenosis: report of 16 cases and review of the literature. J Thorac Cardiovasc Surg 1996;5:873–82. [7] Bonnet D, Saygili A, Bonhoeffer P, Fermont L, Sidi D, Kachaner J. Atrio-ventricular valve dysplasia in 22 newborn infants. Int J Cardiol 1997;59:113–8.