Supravalvular Aortic Stenosis Research Articles

Patch annulo-aortoplasty in an adult patient with congenital supravalvular aortic stenosis and a small aortic annulus

A 39-year-old woman with familial homozygous hypercholesterolemia had supravalvular and valvular aortic stenosis. Modified Nick's procedure and aortic valve replacement was performed to relieve both the supravalvular and annular stenoses. At surgery, the ascending aorta was found to be narrowing at the level of the sinotubular junction, which was compatible with congenital supravalvular aortic stenosis. Histological examination of the aortic cusps showed sclerotic change due to hypercholesterolemia. These findings indicated that familial homozygous hypercholesterolemia caused valvular aortic stenosis and exacerbated congenital supravalvular aortic stenosis.

William-Beuren Syndrome-An Orthodontic Perspective

Williams syndrome is a genetic condition,which predominantly occurs as a sporadic disorder,caused by a submicroscopic deletion in the chromosome 7 (elastin gene). The incidence of Williams syndrome is estimated to be one in 20,000-50,000 1 live births and it consists of supravalvular aortic stenosis, characteristic dysmorphic facial features named elfin face (wide mouth with long philtrum and thick lips ) mental retardation and other clinical manifestations including transient infantile idiopathic hypercalcaemia, growth retardation and frequent dental problems.Early diagnosis of the syndrome is important since many of its features require treatment. The clinical complexity of this developmental disorder is well known, making it difficult to diagnose on the clinical picture, while genetic testing is expensive and it is not cost effective to screen all patients. A dentist can be of help in diagnosing William's syndrome early. We examined a female patient aged 16 yrs with Williams syndrome diagnosed by her medical history at the Department of Orthodontics and Dentofacial Orthopaedics, Krishnadevaraya College of Dental Sciences, Bangalore. She presented with typical orofacial findings of Williams syndrome. We highlight the fact that early orthodontic consultation is very important to avoid further dental anomalies in Williams syndrome.

Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers

INTRODUCTION:Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis, mental retardation, overfriendliness, and ocular and renal abnormalities comprise typical symptoms in WBS. Although fluorescence in situ hybridization is widely used for diagnostic confirmation, microsatellite DNA markers are considered highly informative and easily manageable.OBJECTIVES:This study aimed to test the microsatellite markers for the diagnosis of Williams-Beuren syndrome, to determine the size and parental origin of microdeletion, compare the clinical characteristics between patients with different sizes of the deletion and parental origin.METHODS:We studied 97 patients with clinical diagnosis of Williams-Beuren syndrome using five microsatellite markers: D7S1870, D7S489, D7S613, D7S2476 and D7S489_A.RESULTS AND DISCUSSION:Using five markers together, the result was informative in all patients. The most informative marker was D7S1870 (78.4%), followed by D7S613 (75.3%), D7S489 (70.1%) and D7S2476 (62.9%). The microdeletion was present in 84 (86.6%) patients and absent in 13 (13.4%) patients. Maternal deletions were found in 52.4% of patients and paternal deletions in 47.6% of patients. The observed size of deletions was 1.55 Mb in 76/84 patients (90.5%) and 1.84 Mb in 8/84 patients (9.5%). SVAS as well as ocular and urinary abnormalities were more frequent in the patients with a deletion. There were no clinical differences in relation to either the size or parental origin of the deletion.CONCLUSION:Using these five selected microsatellite markers was informative in all patients, thus can be considered an alternative method for molecular diagnosis in Williams-Beuren syndrome.

Puérpera com trombose de prótese mecânica e estenose supravalvar aórtica adquirida

The blood hypercoagulability in pregnancy increases significantly the incidence of thrombosis of mechanical valves. Acquired supravalvular aortic stenosis is extremely rare. We report the case of an immediate postpartum patient with aortic mechanical prostheses and acquired supravalvular aortic stenosis who underwent emergency heart surgery, with severe hemodynamic instability, using adapted surgical technique for correction of supravalvular stenosis with satisfactory clinical and echocardiography results.

Surgical Correction and Prognostic Factors for Ascending Aortic Lesions Involving Coronary Arteries

The prognostic factors following aortic root reconstruction were studied in 19 patients including 13 with annuloaortic ectasia (AAE) and 6 without AAE (non-AAE). The preoperative diagnosis of six non-AAE patients was a dissecting aneurysm in five of the patients and supravalvular aortic stenosis associated with stenosis of the right coronary ostia in one patients. In the AAE group, the Bentall's method was initially selected in 11 patients and the Cabrol's method in the remaining 2 patients. In the non-AAE group, ascending aortic replacement was performed in 4 patients, patch plasty of the ascending aorta in 1 patient, and entry closure in the other patient. In this group, aorto-coronary bypass grafting using a saphenous vein graft was performed in 4 patients, ostioplasty of the right coronary artery (RCA) in 1, and the Bentall's method in 1. During the postoperative acute phase, one AAE patient died of acute myocardial infarction 3 days after surgery; the remaining 18 patients survived. In the follow-up study, 3 patients died of cardiac events which included two cardiac failures and one arrhythmia. The preoperative left ventricular diameter in the end-diastolic phase (LVDd) of 2 AAE patients who died of cardiac failure was 80 mm or larger and the left ventricular function remained unchanged after surgery. One non-AAE patient who underwent RCA ostioplasty suddenly died of arrhythmia. Postanastomotic leakage around the left coronary ostia associated with the patent Cabrol's trick occurred in 1 AAE patient and mitral valve regurgitation occurred in the other non-AAE patient. Reoperation using Cabrol's procedure and mitral valve replacement were performed for these 2 patients, respectively. Preoperative low cardiac function and large LVDd may influence the late results in AAE patients, therefore, earlier operations should be recommended.

Modified simple sliding aortoplasty for preserving the sinotubular junction without using foreign material for congenital supravalvar aortic stenosis☆

The surgical approach for treating supravalvar aortic stenosis (SVAS) has evolved from a plain patch technique to a three-dimensional patch repair, which has some drawbacks. Here, we report on the midterm outcomes after using our modified simple sliding aortoplasty preserving sinotubular junction without foreign material for surgical correction of SVAS. Between June 2001 and February 2010, 18 children (median age, 6.2 years; range 0.5-2.2 years) with discrete SVAS underwent surgical repair. After a standard median sternotomy, cardiopulmonary bypass and cardioplegic arrest, the aorta was transected obliquely just distal to the point of stenosis. An incision was then made into the non-coronary sinus of the proximal aorta, and a counterincision was made into the lesser curvature of the ascending aorta, after which, the proximal and distal aorta were anastomosed directly with a running suture. Peak pressure gradients were estimated using echocardiography and the data were reviewed retrospectively. The median follow-up period was 39.6 months (range, 1-104.5 months). There was no early or late death. No patients required re-operation. Ten patients had Williams-Beuren syndrome. There were eight cases of concomitant pulmonary artery angioplasty. The mean pressure gradient decreased from 65.9 ± 18.4 mm Hg preoperatively to 15.2 ± 8.9 mm Hg at the final follow-up (P = 0.01). There was no significant, more than mild aortic regurgitation. Our modified simple sliding aortoplasty showed excellent surgical results, and may be a good option for discrete SVAS.

Mid-term results after surgical repair of congenital supravalvular aortic stenosis by extended aortoplasty

Mid-term results after surgical repair of congenital supravalvular aortic stenosis by extended aortoplasty

Supravalvar Aortic Stenosis in Infancy

Supravalvar aortic stenosis (SVAS) is a rare anomaly of the aortic root caused by a genetically based deficiency in elastin production. Concomitant primary and secondary cardiovascular lesions complicate surgical management and impact early and late outcomes. Because SVAS is a rare lesion, surgical series are relatively small and span lengthy time periods. Consequently, risk factors that influence early and late outcomes are not well defined. Patients who come to surgery during infancy are particularly challenging, but little attention has been directed as to whether or not young age influences outcomes. This review suggests that complicating associated features of elastin arteriopathy are more prevalent in patients who require relief of SVAS during infancy, and that concomitant lesions significantly increase the difficulty and risk of treating younger patients with SVAS.

Supravalvular aortic stenosis in William′s syndrome

We report supravalvular aortic stenosis in a 12 year old patient who presented with mental retardation, malformed teeth, broad lower lips, pectus carinatum, clinodactyly, kyphoscoliosis with symptoms of shortness of breath. On examination presence of better volume pulse in right radial artery with ejection systolic murmur best heard in right 2nd intercostal space were noted. Patient was diagnosed as having William's syndrome with investigations demonstrating Supravalvular aortic stenosis with a gradient of 170 mm Hg.

Two Cases of Diverticulitis in Patients With Williams Syndrome

Williams syndrome is rare and associated with physical anomalies and mental retardation. It is a disease resulting from a gene deletion of chromosome 7. The main concurrent medical conditions typically associated with Williams syndrome are heart defects such as supravalvular aortic stenosis, mental retardation, and unusual physical characteristics. It is also associated with colon diverticulosis and diverticulitis. In the present article, we report on 2 cases of diverticulitis in patients with Williams syndrome, in whom surgery was performed. In many cases of diverticulitis in patients with Williams syndrome, surgical treatment is indicated. It is important to take diverticulitis into consideration when examining a patient with Williams syndrome presenting with abdominal pain and consider surgical treatment if necessary.

Long-term Outcome for Congenital Supravalvar Aortic Stenosis

Objective: Supravalvar aortic stenosis is an uncommon form of left ventricular outflow tract obstruction, with a typical localised form of the disease, and a less frequent diffuse form involving the ascending aorta and beyond.

Occlusion of Left Coronary Ostium With a Rudimentary Aortic Cusp

A 74-year-old woman with exertional angina was diagnosed with occlusion of the left coronary ostium associated with a rudimentary aortic valve cusp. A transesophageal echocardiogram, a multi-detector computed tomographic scan, and a coronary angiographic scan revealed the rudimentary aortic cusp covering the small left coronary aortic sinus leading to occlusion of the ostium of the left coronary artery, despite the intact coronary arteries. After excision of the rudimentary left coronary cusp, the left coronary ostium appeared intact. An aortic valve replacement with annular enlargement using a bioprosthetic valve was performed. The patient uneventfully recovered without angina.

Reoperation After Supravalvular Aortic Stenosis Repair

Supravalvular aortic stenosis (SVAS) is the rarest type of left ventricular outflow tract obstruction. We reviewed our experience with this anomaly and analyzed risk factors for death or reoperation. Between 1984 and 2009, 49 patients had surgery for SVAS. A single-patch technique was used in 3, two-sinus enlargement in 39, and three-sinus enlargement in 7. Variables evaluated included age at surgery (<2 versus >2 years old), presence of pulmonary artery stenosis, type of SVAS (focal versus diffuse), presence of valvular aortic stenosis, and era of surgery. The only early death occurred in a patient who experienced cardiac arrest during anesthesia induction and could not be separated from bypass after surgery. There were 2 late deaths at 3 and 11 years after SVAS repair, both related to treatment for pulmonary artery stenosis. Actuarial survival at 5, 10, and 20 years was 95%, 95%, and 90%, respectively. Sixteen patients required 23 reoperations: for pulmonary artery stenosis (n = 10), distal aortic stenosis (n = 9), aortic valve stenosis (n = 4), and coronary artery stenosis (n = 1). Actuarial reoperation-free survivals at 5, 10, and 20 years were 73%, 58%, and 52%, respectively. Coexistent pulmonary artery stenosis, young age at surgery, and diffuse type SVAS were predictors of lower freedom from death or reoperation by both univariate and multivariate analyses. Survival after surgical repair of SVAS is excellent. However, reoperation is frequent, especially when the patients also have pulmonary artery stenosis, diffuse type SVAS, and initial surgery at a young age.

Multidetector computed tomographic assessment of subvalvular aortic stenosis

Aortic valvular stenoses have been classically described as supra-valvular, valvular, and subvalvular. Supra-valvular aortic stenosis (AS) is the rarest form and valvular AS the commonest. The overall prevalence of subvalvular AS is not clear but has been reported in up to 6.5% of adults with congenital heart disease and almost 20% of children presenting with left ventricular outflow obstruction.1–3 Subvalvular stenosis occurs in two forms: discrete type and diffuse tunnel type. The discrete form is caused by a crescent or circumferential membrane or fibromuscular band below the aortic valve.

A family with a newelastingene mutation: broad clinical spectrum, including sudden cardiac death

Supravalvular aortic stenosis is associated with the Williams-Beuren syndrome, but it also occurs in a non-syndromatic congenital form. An elastin gene mutation of chromosome 7q11.23 is responsible in both cases. The vascular features are identical. These patients have a higher risk of sudden death, particularly when undergoing diagnostic or surgical procedures. We report the account of a family with a new mutation in the elastin gene. Screening over three generations revealed eight affected individuals. The cardiac and vascular malformations ranged from mild asymptomatic supravalvular aortic stenosis and isolated dysplastic atrioventricular valves to diffuse arterial hypoplasia. Two infants presented arteries affected at multiple locations, including the left coronary artery. Both died of sudden cardiac death and myocardial ischaemia, one while under general anaesthesia for cardiac catheterisation, and the other perioperatively. We discuss the pathophysiological aspects in these patients that deserve consideration before any general anaesthesia is administered.

631 Critical Supravalvular Aortic Stenosis in a Family with a New Elastin Gene Mutation

Background and aims: An elastin gene mutation causes manifold vascular stenosis in patients with Williams-Beuren Syndrome, but also in a nonsyndromatic congenital form. These patients have a higher risk of sudden death, particularly when undergoing diagnostic or surgical procedures. Methods: We performed Molecular genetic investigation of the elastin - Gen in one family. The cardiac and vascular malformations in these patients were determined and 2 lethal clinical courses are described. Results: Screening over 3 generations revealed 8 affected individuals with a new Elastin - gen mutation. The cardiac and vascular malformations range from mild asymptomatic supravalvular aortic stenosis and isolated dysplastic atrioventricular valves to diffuse arterial hypoplasia. Two infants presented arteries affected at multiple locations, including the left coronary artery. Both died of sudden heart death and myocardial ischemia, one while under general anesthesia for cardiac catheterization, the other perioperatively. Conclusions: In patients with arterial narrowing, elastin - Gen mutation should be considered. These patients have special pathophysiological aspects. Any application of general anesthesia should undergo careful scrutiny and only be performed by well-experienced anesthesiologists anticipating such problems.

Evidence for Heterozygous Abnormalities of the Elastin Gene (ELN) Affecting the Quantity of Vocal Fold Elastic Fibers: A Pilot Study

To investigate the effects of a heterozygous elastin gene (Eln) abnormality (deletion of one Eln allele) on the structural characteristics of the vocal fold lamina propria using a mouse model of human disease. Cross-sectional between-subjects design. Five mice, four with heterozygous Eln deletions (Eln +/-) serving as an animal model for the human disease supravalvular aortic stenosis and one normal wild-type control (Eln +/+) were used for this study. Vocal folds were obtained from each animal and stained for the protein elastin using histochemical methods. Descriptive data from qualitative visual inspection and quantitative data from microscopic digital image analysis were collected to determine the staining density of elastic fibers within the vocal fold lamina propria. Qualitative visual inspection revealed greater staining density (eg, a greater quantity) for elastic fibers in the Eln +/+ animal. Quantitative measurements using digital pixel analysis of staining density revealed significant differences between mice with the two genotypes, confirming the qualitative findings. Results suggest that Eln requires two functioning alleles for normal structural development of the vocal fold lamina propria. This pilot evidence supports the hypothesis of a structural etiology causing altered vocal function in humans with a similar genotype.

Long-term outcome of large artificial patch aortic repair for diffuse stenosis in Williams syndrome

There have been only a few reports concerning the long-term results of a surgical procedure using a large artificial patch for patients with Williams syndrome. Twelve years have passed since a patient with William's syndrome underwent a surgery with a patch angioplasty for the diffuse supravalvular aortic stenosis and deformities of the neck branch arteries. The patient had a well-balanced aortic growth without stenotic or aneurysmal changes, which was confirmed during the time of the second surgery when replacing the mitral valve. This technique of using a large patch has proven to be safe for Williams syndrome patients with diffuse supravalvular aortic stenosis in the long term.

Simultaneous Repair of Supravalvar Aortic and Supravalvar Pulmonary Stenosis Using the 3-Patch Technique

Patients with Williams-Beuren syndrome may have bilateral outflow tract obstruction. We report a simultaneous repair of supravalvar aortic and supravalvar pulmonary stenosis using the 3-patch technique.

Williams–Beuren syndrome: An unusual cause of neonatal and infantile coarctation

Williams–Beuren syndrome (WBS), a genetic disease involving the elastin gene, is characterized by elfin face and mental and growth retardation. Cardiovascular involvement primarily comprises supravalvular aortic stenosis and peripheral pulmonary stenosis. Neonates with WBS are commonly asymptomatic, although a few articles report with the presence of aortic coarctation (COA). We sought to determine the frequency and the clinical profile of infants with WBS and COA.