Elsevier

Cardiovascular Pathology

Volume 10, Issue 1, 2 January 2001, Pages 33-37
Cardiovascular Pathology

Pathology of the diffuse variant of supravalvar aortic stenosis

https://doi.org/10.1016/S1054-8807(00)00053-3Get rights and content

Abstract

Supravalvar aortic stenosis is a rare congenital heart anomaly, producing left ventricular outflow tract obstruction. Of the two anatomic variants that have been described, diffuse type is the rarest. We report five such cases in children between two months and nine years of age. None had features of Williams syndrome. The entire aorta was involved in three cases, with abdominal aortic coarctation in two cases. Stenosis was mainly due to involvement of the media, which showed smooth muscle hypertrophy, abnormal elastic fibers, and mild collagenization. Predominant intimal change was seen in one case. Pulmonary, coronary, arch, renal, and common iliac arteries were also involved.

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

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