[9] Congenital Stenosing Arteriopathy Is Part of the Spectrum of Williams Syndrome: Case Report and Literature Review

RG Gamez, AG Rose. University of Minnesota, Minneapolis, MN

Background: Congenital stenosing arteriopathy (CSA), (originally termed macaroni arteries) is a rare form of arteriopathy affecting the aorta and its major branches. All six previously reported cases have been autopsied females and in the pathologic literature the condition has been regarded as uniformly fatal in early life (all died under 30 months of age). Williams syndrome is defined as supravalvular aortic stenosis and mental retardation associated with typical facies in a child aged 1-15 months at time of diagnosis. Peripheral arteriopathy and pulmonary artery stenosis are associated.
Design: We report the autopsy case of an infant with Williams syndrome (confirmed by FISH during life) that showed features of CSA.
Results: The deceased patient was a one month old female with Williams syndrome (FISH positive testing) with clinical aortic valve stenosis, supra-valvular aortic stenosis, narrowed main pulmonary artery and decreased left ventricular function. The mitral valve showed moderate insufficiency. Cardiac catheterization led to cardiac arrest and two successful resuscitations. However, the following morning she died of cardiac electromechanical dissociation. Autopsy revealed diffuse thickening of the aorta throughout its length due to excessive number of lamellar units (112 instead of about 60). The major aortic arch branches were similarly thickened by excessive lamellar units and the coronary arteries showed medial smooth muscle excess. The pulmonary artery shared in the excess of lamellar units and also showed disarray of the outer lamellar units. The features observed in this patient are identical to those described in congenital stenosing arteriopathy.
Conclusions: Autopsy experience with CSA has led to an artificial separation of this subset of patients from other patients with Williams syndrome and has also led pathologists to erroneously believe that the condition is uniformly fatal in early life. Pediatric cardiologists (JHM, personal communication) have encountered teenage patients with Williams syndrome showing diffuse aortic narrowing. Our present autopsy case with FISH positive confirmation of Williams syndrome indicates that congenital stenosing arteriopathy may form part of the spectrum of Williams syndrome. Prospective cases of congenital stenosing arteriopathy as well as those previously published should be tested for Williams syndrome by FISH.
Category: Autopsy

Monday, March 9, 2009 9:30 AM

Poster Session I Stowell-Orbison/Autopsy Award # 3, Monday Morning