Mitral valvular abnormalities associated with supravalvular aortic stenosis: Observations in 3 cases

doi:10.1016/0002-9149(72)90421-3

The American Journal of Cardiology

Volume 29, Issue 1, January 1972, Pages 90-94

https://doi.org/10.1016/0002-9149(72)90421-3 Get rights and content

Abstract

In 3 of 5 specimens of heart from patients with supravalvular aortic stenosis, lesions of the mitral valve were observed. In the youngest patient, an infant, the changes consisted of collagenous thickening of leaflets and mild degrees of protrusion of segments of the leaflets toward the left atrium (hooding). In the 2 older subjects, aged 7 and 38 years, respectively, the processes of hooding and valvular thickening were pronounced. In addition, each of the latter 2 patients had endocardial fibrous lesions of the left ventricular endocardium related to thick chordae attaching to the posterior leaflets. In the oldest subject, chordae were adherent to the related left ventricular endocardium.

The lesions of the mural endocardium and of the chordae are considered to result from friction incident to the underlying valvular hooding. Since the material was limited in amount, it is uncertain whether the mitral valvular changes represent a coincidental or true association with supravalvular aortic stenosis.

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Cited by (28)

Brom's three-patch technique for repair of supravalvular aortic stenosis
1999, Journal of Thoracic and Cardiovascular Surgery
Objective: Case histories of all patients (n = 29) operated on for supravalvular aortic stenosis from 1962 to the present were reviewed to study different techniques and outcomes. The technique of symmetric aortoplasty with 3 patches (1 in each sinus) is described and compared with other methods. Methods: Case reports were reviewed and follow-up was completed by contacting the patient’s (pediatric) cardiologist. We aimed for a last follow-up visit, including Doppler echocardiographic studies, in a period no more than 12 months earlier than December 1997. Supravalvular aortic stenosis was discrete in 25 and diffuse with involvement of the aortic arch and arch vessels in 4 patients. Additional anomalies were bicuspid aortic valve (n = 5), coarctation (n = 3), ascending aortic aneurysm (n = 1), mitral valve insufficiency (n = 2), pulmonary valvular stenosis (n = 1), and peripheral pulmonary artery stenosis (n = 2). Eleven patients had Williams syndrome and 1 patient had Noonan syndrome. Symmetric aortoplasty with 3 patches (1 in each sinus) was used in 13 patients, whereas other nonsymmetric methods (1, 2, or Y-shaped patches) were used in 16 patients. Mean follow-up was 10.5 years (range: 4 months–36 years). Results: All techniques adequately decreased the pressure gradient. Progression of preoperative aortic valve insufficiency or de novo regurgitation was not observed except in 1 patient in whom the patches inserted were too large. Conclusions: No difference could be demonstrated in outcome for any surgical technique; however, reconstruction of the aortic root with autologous pericardial patches in each sinus after transection of the aorta has the advantage of symmetry while restoring the normal aortic root anatomy. (J Thorac Cardiovasc Surg 1999;118:252-8)
Vascular causes of sudden death in infancy, childhood, and adolescence
1996, Cardiovascular Pathology
Vascular causes of sudden death in infancy, childhood, and adolescence range from primary disorders of the vasculature involving structural compromise, as in anomalous coronary arteries, to vascular problems that may arise as secondary phenomena, such as the infectious arteritides. The etiology of the underlying condition may be understood, as in fatal pulmonary thromboembolism, or it may be shrouded in mystery, as in idiopathic arterial calcinosis. The absence of a clinical history indicating an underlying vascular problem in a number of disorders that may cause sudden childhood death underlines the importance of a meticulous autopsy examination in such cases.
Pathology of coronary arteries, myocardium, and great arteries in supravalvular aortic stenosis: Report of five cases with implications for surgical treatment
1994, Journal of Thoracic and Cardiovascular Surgery
Among five patients with supravalvular aortic stenosis in whom autopsy tissues were available, all were male, 1 ½ to 39 years old (mean 10 years, median 3 years), and the four children had Williams-Beuren syndrome (two familial, two sporadic). Medial thickening and dysplasia (disorganization) characterized the aortic sinotubular junction of three patients with discrete disease and the entire ascending aorta and arch branches of the two with diffuse disease. Medial dysplasia also involved the pulmonary arteries in each case, but less severely than the aorta. Dysplasia of coronary arteries was observed in all five hearts and was more obstructive proximally than distally, in cases with diffuse than discrete aortic disease, and in the adult than in the two children with discrete supravalvular aortic stenosis. All major epicardial arteries were involved, without predilection for any particular vessel. In contrast to the great arteries, coronary artery dysplasia involved all three layers, not just the media. To varying degrees, vessels showed intimal hyperplasia, fibrosis, and disorganization (dysplasia); disruption and loss of the internal elastic membrane, with indistinct intimal-medial junctions; medial hypertrophy and dysplasia; and adventitial fibroelastosis. In severe cases, the microscopic structure resembled that of the ductus arteriosus. Acute intramedial dissections were observed in the ascending aorta and distal right coronary artery in one patient each. Chronic microfocal ischemic fibrosis was identified in the subendocardium and papillary muscles of the left ventricle in four patients, and the adult patient also had an acute myocardial infarction. In summary, these findings emphasize the extraaortic extent of supravalvular aortic stenosis and the development of ischemic heart disease even in childhood. The presence of severe coronary obstruction in the adult with discrete aortic disease suggests that chronic high pulsatile coronary blood pressure may favor the proliferation of dysplastic tissue. Early surgical intervention may minimize the degree of proliferation, as well as allow regression of left ventricular hypertrophy, thereby lessening the risk of myocardial ischemia and aortic dissection. (J THORAC CARDIOVASC SURG 1994;108:21-8)
Supravalvular aortic stenosis: Long-term results of surgical treatment
1994, Journal of Thoracic and Cardiovascular Surgery
To determine long-term outcome after operation for supravalvular aortic stenosis, we reviewed the case histories of 80 patients who had repair of the localized form (group A) ( n = 67) or diffuse form (group B) ( n = 13) from 1956 to 1992, including 31 patients with the Williams-Beuren syndrome. Ages ranged from 7 months to 54 years (mean = 12.6 years). Forty-six patients had one or more associated cardiovascular anomalies; the most common was aortic valve stenosis (33.8%). Eighteen patients had 22 previous cardiovascular operations, and 28 patients had one or more additional anomalies repaired during their initial procedure at our institution. In group A, the aortic root was enlarged with a teardrop-shaped patch ( n = 61) or a pantaloon-shaped patch ( n = 6). In group B, patch enlargement of the aorta was confined to the root ( n = 4) or extended into the ascending aorta or aortic arch ( n = 7); one patient had a graft placed between the ascending and descending thoracic aorta and one patient had a left ventricular–aortic conduit. There were no deaths in group A; two patients in group B in whom patch enlargement was confined to the aortic root died during the operation (2.5%). Follow-up extended to 33.4 years (mean = 14.2 years); there were five late deaths in group A and one in group B. Survival excluding operative mortality was 94% at 10 years and 91% at 20 years. All patients were in functional class I or II. There was no significant difference between patients with a teardrop-shaped or pantaloon-shaped patch in terms of late gradient, survival, or aortic insufficiency. By Cox multivariate model, the only independent predictor of late death for all patients was associated aortic valve disease ( p = 0.02), which was also a risk factor for late reoperation ( p = 0.02). In group B, overall survival was better in patients who received an extended patch versus aortic root patch only ( p = 0.02). We reached the following conclusions: (1) Associated aortic valve disease was strongly correlated with late death and need for reoperation. (2) Both the teardrop-shaped and pantaloon-shaped patch techniques provide excellent long-term relief of localized supravalvular gradients and preservation of aortic valve competence. (3) In diffuse supravalvular aortic stenosis, aortic enlargement should be extended into the ascending aorta or beyond as required to relieve the gradient; some patients may require a graft or conduit. (4) Early surgical intervention before development of coronary artery disease or ventricular dysfunction may improve long-term survival. (J THORAC CARDIOVASC SURG 1994;107:103-15)
Aortic/mitral obstruction and coarctation of the aorta
1993, Cardiology Clinics
The prevalence, anatomy and physiology, clinical manifestations, laboratory findings, and management of patients with aortic/mitral obstruction and coarctation of the aorta are assessed. Subaortic stenosis reviewed includes discreet membranous and tunnel subaortic stenosis as well as hypertrophic obstructive cardiomyopathy. The discussion of valvular aortic stenosis includes both congenital and acquired forms of the disease. Supravalvular aortic stenosis is described along with coarctation of the aorta. Mitral valvular stenosis includes the congenital as well as acquired variety with focus on the congenital lesion. Current opinion regarding the medical, the cardiac catheterization, interventional, and the surgical approaches to therapy is presented.
Supravalvar aortic stenosis: A 29-year review of surgical experience
1991, The Annals of Thoracic Surgery
Between February 1960 and August 1989, 73 consecutive patients underwent surgical correction for supravalvar aortic stenosis (SVAS) at the Texas Heart Institute. There were 43 male (59%) and 30 female patients (41%) ranging in age from 5 days to 27 years (mean age, 12 years). Preoperatively, 8 patients were in New York Heart Association functional class I, 43 in class II, 18 in class III, and 4 in class IV. Of the 73 patients, 62 had localized SVAS and 11 (15%), diffuse SVAS. For all procedures, patients were placed on cardiopulmonary bypass. Those with localized SVAS were successfully treated with patch aortoplasty, whereas those with diffuse SVAS required either an apicoaortic conduit or extensive endarterectomy with extended patch aortoplasty. There were eight early deaths (≤30 days postoperatively) (11%) and four late deaths (>30 days postoperatively) (6%) in a follow-up period ranging from 2 months to 28 years. Sixteen patients (25%) underwent one or more additional operations in the follow-up period. Postoperatively, there were 44 patients in New York Heart Association functional class I and 17 in class II. Preoperative functional class III and class IV (p < 0.0005), diffuse SVAS (p = 0.05), and the presence of associated congenital defects (p < 0.01) were important determinants of death.

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^☆: This study was supported by Public Health Service Research Grant 5 RO1 HE05694 and Research Training Grant 5 TO1 HE05570 from the National Heart and Lung Institute, the Otto Bremer Foundation, and the Netherlands Organization for the Advancement of Pure Research (Z.W.O.).

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Case reportMitral valvular abnormalities associated with supravalvular aortic stenosis: Observations in 3 cases☆

Abstract

J Thorac Cardiovasc Surg

Lancet

Amer J Cardiol

J Thorac Cardiovasc Surg

Amer J Cardiol

Supravalvular aortic stenosis

Circulation

Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance

Circulation

Idiopathic hypercalcemia and Supravalvular aortic stenosis: Documentation of a new syndrome

New Engl J Med

Angiographic study of supravalvular aortic stenosis and associated lesions. Report of five cases and review of literature

Ann Radiol (Paris)

Case report
Mitral valvular abnormalities associated with supravalvular aortic stenosis: Observations in 3 cases☆