Pathology of the diffuse variant of supravalvar aortic stenosis
Introduction
Supravalvar aortic stenosis is an uncommon congenital cardiac anomaly resulting in left ventricular outflow obstruction. A disruption of the elastic gene (ELN) on chromosome 7q 11.2 [1] leads to the three clinical presentations — sporadic, familial (autosomal dominant), and Williams syndrome; and to two anatomic variants — discrete and diffuse types [2], [3]. Much of the literature has stressed the clinical and therapeutic aspects of the disease; pathologic studies are few, particularly of the diffuse variant. We describe five cases of diffuse supravalvar aortic stenosis encountered in autopsy during a 12-year period.
Section snippets
Materials and methods
Seven cases indexed as supravalvar aortic stenosis were retrieved from the autopsy records of the Cardiovascular and Thoracic Division of the Department of Pathology at Seth G.S. Medical College from 1987 to 1998. Five of these cases showed diffuse involvement of the aorta. The clinical profile, detailed autopsy findings, and heart/aorta specimens of the five cases were available for study. Sections from the ascending, transverse, descending thoracic, and abdominal portions of the aorta,
Clinical features
There were four males and one female, aged between two months and nine years. All the children were admitted with progressive breathlessness. Symptoms of respiratory tract infection were present in two patients. One of the patients, who was nine years old, was previously diagnosed with supravalvar aortic stenosis. His brother, age thirteen, had a sudden cardiac death, details of which were not available. Systemic and pulmonary hypertension, juxtaductal coarctation, and acyanotic heart diseases
Discussion
Supravalvar aortic stenosis is a rare congenital cardiac anomaly characterized by stenosis in the ascending aorta. From the surgical point of view, they are categorized as localized and diffuse, of which the former is more common and amenable to surgery [3]. In a clinicopathological study of six cases, O'Connor et al. [5] found five cases to be localized and one diffuse. Among these, only one was sporadic while others were either familial or part of Williams syndrome. In a similar study of five
References (10)
- et al.
A new mutation in the elastia gene causing supravalvar aortic stenosis
Am J Cardiol
(1999) - et al.
Natural history of supravalvar aortic stenosis and pulmonary artery stenosis
J Am Coll Cardiol
(1990) - et al.
Supravalvar aortic stenosis. Long term results of surgical treatment
J Thorac Cardiovasc Surg
(1994) - et al.
Natural history of Williams Syndrome: physical characteristics
J Pediatr
(1988) - et al.
Pathology of coronary arteries, myocardium, and great arteries in supravalvar aortic stenosis. Report of five cases with implications for surgical treatment
J Thorac Cardiovasc Surg
(1994)
Cited by (25)
Recommendations for Multimodality Assessment of Congenital Coronary Anomalies: A Guide from the American Society of Echocardiography: Developed in Collaboration with the Society for Cardiovascular Angiography and Interventions, Japanese Society of Echocardiography, and Society for Cardiovascular Magnetic Resonance
2020, Journal of the American Society of EchocardiographyCitation Excerpt :SVAS is strongly associated with Williams syndrome and familial forms of the disease, now recognized as genetic mutations that affect elastin production. In some cases, all the major arteries, including the pulmonary, carotid, and CAs, may be affected.109,111 SVAS may be associated with CA pathologies, which are mainly stenoses.
Ascending aortic obstruction with hypoplastic innominate artery
2015, International Journal of CardiologyA rare case of visceral arterial stenoses in Williams-Beuren syndrome treated by complex revascularization
2012, Annals of Vascular SurgeryBrom Repair for Supravalvar Aortic Stenosis
2011, Operative Techniques in Thoracic and Cardiovascular SurgeryCitation Excerpt :The Myers slide aortoplasty theoretically allows growth potential in infants and young children with a symmetric 3-sinus reconstruction of the aortic root.16 When surgery is indicated in younger children (ie, those weighing less than 10 kg), diffuse disease is more common, and such patients are poor candidates for this repair.10,12,19 In larger patients growth potential is less concerning.
Supravalvar Aortic Stenosis in Infancy
2011, Seminars in Thoracic and Cardiovascular Surgery: Pediatric Cardiac Surgery AnnualCitation Excerpt :Concomitant right ventricular outflow tract, main pulmonary artery, and/or branch pulmonary artery obstructions require intervention in 10% to 30% of cases.5,10,11,13 Patients with severe biventricular pressure overload are at significantly increased risk for myocardial ischemia, sudden cardiac arrest, and operative death.7,8,11,13,15 Right-sided obstruction may occur at the infundibulum, main pulmonary artery, bilateral branch pulmonary arteries, or any combination of these levels.
Williams-Beuren syndrome: A multidisciplinary approach
2009, Archives de Pediatrie