Cardio

Clinical
Investigation

Cardiovascular Spectrum
in Williams-Beuren
Syndrome
The Mexican Experience in 40 Patients

Jesús De Rubens Figueroa,
MD
Luz María Olivares Rodríguez,
MD
José Luis Pablos Hach, PhD
Victoria Del Castillo Ruíz, MD
Héctor Osnaya Martínez, MD

Key words: Aortic coarctation; aortic valve stenosis,
supravalvular; child; face/abnormalities; elastin/genetics;facial expression; gene
deletion; heart defects,
congenital/diagnosis; hypercalcemia; mental retardation; Mexico/epidemiology;
psychomotor performance;
Williams syndrome
From: Departments of
Cardiology (Drs. De Rubens
and Osnaya), Genetics
(Dr. Del Castillo), and Research (Dr. Pablos), and
Pediatric Service (Dr. Olivares), National Institute of
Pediatrics (Instituto Nacional de Pediatría), CP04530
Mexico City, D.F. Mexico
Address for reprints:
Jesús De Rubens Figueroa,
MD, Departamento de Cardiología, Instituto Nacional
de Pediatría, Insurgentes
Sur 3700 – C. Col. Insurgentes Cuicuilco, CP 04530
México, D.F. México
E-mail: derubens@
hotmail.com
© 2008 by the Texas Heart ®
Institute, Houston

Texas Heart Institute Journal

In this study, we have identified and evaluatedthe cardiovascular anomalies associated
with Williams-Beuren syndrome in children.
In a retrospective, lineal, and observational study, we reviewed the files of children who
were seen from 1980 through 2005 (25 years) after a clinical diagnosis of Williams-Beuren
syndrome.
Forty children were diagnosed with this syndrome at the National Institute of Pediatrics
in Mexico City. Of these, 32(80%) were found to have congenital heart defects. The maleto-female ratio was 1.3:1 and ages ranged from 6 months to 15 years (mean, 4.4 years)
at the time of diagnosis. All of the patients had morphologic and genetic characteristics
typical of the syndrome.
We emphasize the cardiovascular aspects from a clinical point of view. Supravalvular
aortic stenosis was our most frequent finding, in 18of 32 patients (56%); gradient differences in these patients ranged from 14 to 81 mmHg. Five patients showed combined
lesions, the most frequent being supravalvular aortic stenosis in combination with pulmonary artery brachial stenosis, or with atrial and ventricular defects. Patients with incomplete atrioventricular defect and bicuspid aortic valve, as were seen at our hospital, have
not toour knowledge been reported in other studies.
One of the patients was scheduled for balloon dilation; another was scheduled for surgery; a 3rd patient was operated on twice for the placement of an aorto-aortic bridge; another underwent ventricular septal defect closure; and yet another underwent aortoplasty,―this
last dying shortly after surgery. (Tex Heart Inst J 2008;35(3):279-85)

Williams-Beuren syndrome (W-BS) is an illness characterized by typical
facies, growth delays, mild mental retardation, extroverted personality,
and congenital heart defects (CHD)—such as supravalvar aortic stenosis
(SAoS) and other forms of arterial problems—seen in 77% to 79% of all patients.1-3
The real frequency of this syndrome is unknown, although it is estimated to be 1 in
10,000–50,000 livebirths.4-6
This syndrome was named after J.C.P. Williams in 1961, although there were reports
previously published by other authors.7 At the same time, Rashkind and colleagues8
suggested the association of idiopathic childhood hypercalcemia with cardiopathy. In
1962, Alois J. Beuren and associates9 pointed to the characteristic “elfin facies” and,
later, to the possibility of an associationwith pulmonary artery (PA) branch stenosis.10
Inheritance of W-BS is, in most cases, sporadic.2,11 However, there is a 50% risk of
transmission of deletions, and cases among family members suggest an autosomal
dominant inheritance pattern. 5,11,12 Williams-Beuren is considered to be a syndrome
with contiguous genes, but it is the gene for elastin, a protein in the aortic wall, that
especially...