Three clinical conditions displaying phenotypic overlap have been linked to mutation or deletion of the elastin gene at 7q11.23. Supravalvar aortic stenosis, an autosomal dominant disorder characterized by elastin arteriopathy, is caused by mutation or intragenic deletions of ELN resulting in loss of function. Autosomal dominant cutis laxa, a primarily cutaneous condition, is the result of frameshift mutations at ELN that cause a dominant-negative effect on elastic fiber structure. Williams syndrome, a neurodevelopmental disorder is due to a 1.5 Mb deletion that includes ELN and at least 15 contiguous genes. The disorder is characterized by dysmorphic facies, mental retardation or learning difficulties, elastin arteriopathy, a unique cognitive profile of relative strength in auditory rote memory and language and extreme weakness in visuospatial constructive cognition, and a typical personality that includes overfriendliness, anxiety, and attention problems. The understanding of these disorders has progressed from phenotypic description to identification of causative mutations and insight into pathogenetic mechanisms for some aspects of the phenotype.

Williams syndrome and related disorders

The diagnostic criteria of the Williams-Beuren syndrome (WBS) were established almost 3 decades ago. Until now there has been little knowledge about the natural and post-surgical history of vascular lesions in this syndrome. In order to evaluate the long term follow-up of aortic and pulmonary vascular lesions, we have analysed the catheterization data, angiocardiograms, and Doppler-echo measurements in 59 patients who were seen at least twice in our institution between 1961 and 1993. Their follow-up periods ranged from 2.1 to 28.2 years. Of 45 patients with supravalvular aortic stenosis (SVAS) with a mean follow-up period of 12.9 years, it became evident that pressure gradients of less than 20 mm Hg in infancy generally remained unchanged during the first two decades of life. Pressure gradients exceeding 20 mm Hg increased from an average of 35.5 mm Hg to 52.7 mm Hg in 13 patients. Of these, 8 required surgical relief of the narrowing. In 7 patients aortic hypoplasia was documented. In 5 of them the caliber of the aorta showed a tendency towards normalisation within a period of 11.9 to 23.9 years. Of 6 individuals with aortic hypoplasia and surgical relief of SVAS, 4 patients developed restenosis at the distal end of the aortoplasty patch. In contrast, 9 patients with operated SVAS-but without aortic hypoplasia-remained free of restenosis over a period of 11 years (mean). Coarctation occurred in 4/59 patients; restenosis was seen in 2 after 5 and 16 years. Peripheral pulmonary stenosis was followed in 23 patients over 14.4 years (mean).(ABSTRACT TRUNCATED AT 250 WORDS)

Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome.

This study is presented to identify and characterize the spectrum of the cardiovascular anomalies in children presenting with Williams-Beuren syndrome and cardiovascular anomalies at The Hospital for Sick Children, Toronto from 1966 to 1988. Forty-nine children were diagnosed and followed. The female to male ratio was 1.2∶1. The age ranged from 1 month to 14 years at the time of diagnosis (mean 39 months), and follow-up periods were from 9 months to 20 years (mean 10 years). All patients having the typical features were also evaluated by geneticsts. Based on cardiovascular findings four groups were identified. Group 1 had isolated supravalvular aortic stenosis (SVAS) (28 patients). There was follow-up in 24 of these children. Six had worsening of supravalvular narrowing and underwent surgery. One showed an increased gradient from 10–40 mmHg during 7 years. Seventeen had mild narrowing and showed no progression over a period of 75 months. Group 2 had isolated pulmonary artery branch stenosis (8 patients). Seven had mild narrowing which remained unchanged over a mean period of 16 months and one underwent surgery. Group 3 had combined lesions (11 patients). Six showed increased left-side narrowing, while right-side obstruction remained static or improved. Five showed improvement in narrowing in both outflow tracts. Five underwent surgery. Additional cardiovascular anomalies included peripheral artery stenosis in two patients, coronary artery abnormalities in three, mitral valve prolapse in three, and coarctation of the aorta in two. Group 4 had isolated lesions. One patient had isolated coarctation of the aorta and one isolated mitral prolapse. In conclusion, supravalvular aortic stenosis was the most common lesion, whereas pulmonary artery stenosis improved in most patients. The role of coronary artery abnormalities has yet to be defined.

Spectrum of cardiovascular anomalies in Williams-Beuren syndrome

Kidneys and urinary tract were examined systematically by ultrasonography in 130 patients with Williams-Beuren syndrome (59 females, median age 5.5 years; 71 males, median age 6.4 years). In addition, serum creatinine was determined and an analysis was performed. Creatinine clearance was available in 79 patients. Renal angiographic examinations were done in 18 patients, 8 of whom had renal artery narrowing (44%). The incidence of renal anomalies in Williams-Beuren syndrome was 17.7% vs. around 1.5% in the normal population (P < 0.0003). The spectrum of these anomalies ranged from minor anomalies such as bladder diverticula to more severe malformations such as renal aplasia or hypoplasia (in 5 of 130 patients). In nine patients a duplicated kidney was found. A decreased creatinine clearance (two patients), recurrent symptomatic urinary tract infections (four patients), and hypertension were uncommon. Nephrocalcinosis was not found in our patients. Our data demonstrate that the risk of a structural abnormality of the kidneys and the urinary tract is increased 12- to 36-fold in Williams-Beuren syndrome compared to the normal population. Ultrasound screening of the renal system should be part of the first evaluation of WBS patients.

Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome

The haemodynamic findings from two serial cardiac catheterisations in ten patients with Williams's syndrome were reviewed. The median ages at study were one and nine years. Raised mean (SD) left ventricular peak systolic pressures associated with supravalvar aortic stenosis increased significantly with time from 121 (25) mm Hg to 153 (29) mm Hg. The peak systolic pressure drop between the left ventricle and aorta (measured in seven patients) increased significantly from 25 (25) mm Hg to 50 (35) mm Hg. Raised right ventricular peak systolic pressure associated with peripheral pulmonary artery stenosis (in eight patients) decreased significantly with time from 52 (26) mm Hg to 28 (6) mm Hg. Supravalvar aortic stenosis in Williams's syndrome seems to progress rapidly, and careful monitoring is indicated. There is a strong likelihood that peripheral pulmonary artery stenosis in Williams's syndrome will improve spontaneously with time.

https://heart.bmj.com/content/heartjnl/62/4/315.full.pdf

The natural course of supravalvar aortic stenosis and peripheral pulmonary artery stenosis in Williams's syndrome.

We report two patients with Williams-Beuren syndrome. The first patient showed no evidence of coarctation of the aorta at the first examination. Seven years later, she developed coarctation of the aorta. In the second patient, we found the progression of renal artery stenosis by serial angiography. We report that vascular lesions may be progressive in Williams-Beuren syndrome.

Progressive vascular lesions in Williams-Beuren syndrome.

Paroxysmal Mitral Regurgitation Treated by Edge-to-Edge Repair

Delayed rupture of the iliac artery after endovascular therapy.

/pdf/mitral-annulus-disjunction-detected-by-left-ventriculography-266felgw.pdf

Mitral annulus disjunction detected by left ventriculography.

Percutaneous edge-to-edge mitral valve repair to hemolysis after surgical mitral valve repair

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