No abstract available.
Aortic Stenosis, Supravalvular*

No abstract available.
Aortic Stenosis, Supravalvular*

No abstract available.
Aortic Stenosis, Supravalvular*

Supravalvular aortic stenosis is a rare cause of left ventricular outflow obstruction in adults. It occurs as an isolated defect sporadically or as a hereditary basis with an autosomal dominant trait without further phenotypical anomalies, or as a part of the Williams syndrome with mental retardation and multiple anomalies. In this report, we present a case of williams syndome associated with megacoronary artery.
Adult ; Aortic Stenosis, Supravalvular ; Arteries* ; Humans ; Intellectual Disability ; Ventricular Outflow Obstruction ; Williams Syndrome*

BACKGROUND: Supravalvular aortic stenosis is a rare form of congenital cardiac anomaly involving ascending aorta distal to coronary orifice. MATERIALS AND METHODS: We operated 12 cases of supravalvular aortic stenosis between July 1986 and March 1997. Age ranged from 4 to 17 (mean 10.2) years and 11 of them were male. Nine patients had clinical features of Williams syndrome. We experienced two types of supravalvular aortic stenosis, including 10 hour glass type and 2 diffuse type. RESULTS: Preoperative transaortic pressure gradient ranged from 40 to 180 (mean 92) mmHg by cardiac catheterization. Pulmonary stenosis was associated in 5 and 2 of them required angioplasty. Operative techniques included 6 standard aortoplasty with elliptical patch, 4 extended aortoplasty with inverted Y shaped patch, and 2 modified Brom's repair. There were no operative deaths. Postoperative echocardiographic evaluation was done at a mean interval of 12 months. Grade I or II aortic regurgitation was found in 3 cases. Postoperative cardiac catheterization revealed a mean transaortic pressure gradient of 26 (range 0 to 75) mmHg. A mean pressure drop was 78 (range 30 to 114) mmHg. All patients were followed up for a mean of 40 (range 1 to 67) months with uneventful clinical course. CONCLUSIONS: Our data proved the low mortality and excellent hemodynamic improvement after surgical relief of supravalvular aortic stenosis in children.
Angioplasty ; Aorta ; Aortic Stenosis, Supravalvular* ; Aortic Valve Insufficiency ; Aortic Valve Stenosis ; Cardiac Catheterization ; Cardiac Catheters ; Child ; Echocardiography ; Glass ; Hemodynamics ; Humans ; Male ; Mortality ; Pulmonary Valve Stenosis ; Williams Syndrome

Williams syndrome (WS) is a developmental disorder characterized by vascular abnormalities such as thickening of the vascular media layer in medium- and large-sized arteries. Supravalvular aortic stenosis (SVAS) and peripheral pulmonary artery stenosis (PPAS) are common vascular abnormalities in WS. The natural course of SVAS and PPAS is variable, and the timing of surgery or intervention is determined according to the progression of vascular stenosis. In our patient, SVAS and PPAS showed rapid concurrent progression within two weeks after birth. We report the early manifestation of SVAS and PPAS in the neonatal period and describe the surgical treatment for stenosis relief.
Aorta ; Aortic Stenosis, Supravalvular ; Arteries ; Constriction, Pathologic* ; Heart Defects, Congenital ; Humans ; Parturition ; Pulmonary Artery* ; Tunica Media ; Williams Syndrome*

Primary hypothyroidism related to morphological and volumetric abnormalities of the thyroid gland is one of the commonest of several endocrine dysfunctions in Williams-Beuren syndrome (WBS). We report a 10-month-old boy with WBS who presented with central hypothyroidism. During the neonatal period, he had prolonged jaundice, feeding difficulties and episodes of colic that continued during early infancy. Additionally, there was slowing of growth and mild developmental delay. He underwent surgical repair for supravalvular aortic stenosis at 6 months of age. An evaluation done to exclude cortisol deficiency before initiating levothyroxine lead to the detection of secondary adrenal insufficiency, unreported previously in WBS. In addition, insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 levels were low. This report of hypopituitarism in WBS indicates a need for complete evaluation of pituitary dysfunction in children with WBS.
Adrenal Insufficiency* ; Aortic Stenosis, Supravalvular ; Child ; Colic ; Humans ; Hydrocortisone ; Hypopituitarism ; Hypothyroidism* ; Infant ; Jaundice ; Male* ; Thyroid Gland ; Thyroxine ; Williams Syndrome*

The diffuse form of supravalvar aortic stenosis represents a surgical challenge when the ascending aorta, aortic arch, proximal descending thoracic aorta and arch arteries are involved. It can be treated by a variety of surgical approaches. We report a case of severe diffuse supravalvar aortic stenosis combined with an aortic valve anomaly and occlusion of the right coronary artery ostium in a 14-year-old boy with Williams syndrome. We enlarged the aortic root (Nick's procedure), ascending aorta, aortic arch, proximal descending thoracic aorta, and innominate artery with patches and replaced aortic valve with 19 mm St. Jude valve. Deep hypothermic circulatory arrest and retrograde cerebral perfusion were used during repair of the arch and arch artery.
Adolescent ; Aorta ; Aorta, Thoracic ; Aortic Stenosis, Supravalvular* ; Aortic Valve* ; Arteries ; Brachiocephalic Trunk ; Circulatory Arrest, Deep Hypothermia Induced ; Coronary Vessels ; Humans ; Male ; Perfusion ; Williams Syndrome

OBJECTIVETo introduce the experience of diagnosis and surgical treatment of Williams syndrome combined with cardiovascular disease.

METHODSBetween October 1996 and June 2003, 8 patients of Williams syndrome with cardiovascular disease were admitted in Fuwai hospital. Seven patients underwent surgical correction. One didn't undergo surgical procedure. There were 6 male and 2 female ranging from 1.5 to 12.0 years old (medium age 6.4). Three had localized type supravalvular aortic stenosis and 5 diffused type supravalvular aortic stenosis. In them, 2 patients were combined with peripheral pulmonary stenosis. Single patch aortoplasty were performed in 6 cases, and inverted bifurcated patch aortoplasty in one patient.

RESULTSOne patient died and one patient suffered renal insufficiency. In the early postoperative period, the mean speed of flow was reduced to 1.7 m/s from 4.6 m/s, and the mean systolic pressure gradient was reduced from 91 mm Hg to 18 mm Hg. Six patients were followed up 16 to 91 months. There were 5 cases in NYHA function class I, and one in class II.

CONCLUSIONSatisfied result can be achieved in surgical treatment of Williams syndrome with supravalvular aortic stenosis, but it is not in combined with peripheral pulmonary stenosis.

Aortic Stenosis, Supravalvular ; complications ; congenital ; surgery ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Infant ; Male ; Pulmonary Valve Stenosis ; complications ; congenital ; surgery ; Treatment Outcome ; Williams Syndrome ; complications ; surgery

BACKGROUND: Williams syndrome is characterized by supravalvular aortic stenosis, mental retardation and peculiar facial appearance. Its genetic etiology is considered to be hemizygotic deletion in Chromosome 7q11.23 which includes the elastin gene. We examined the deletion in Korean Williams syndrome patients and their parents. MATERIALS AND METHOD: Sixteen patients were selected through careful clinical examination including echocardiography and cardiac angiography. Hemizygotic deletion of elastin gene was determined in patients and 21 parents with fluorescent in situ hybridization (FISH) technique using the bacterial artificial chromosome clone 244H3 probe or commercial WSCR probe. RESULTS: FISH showed hemizygotic deletion of chromosome 7 in all sixteen patients but none of their parents showed deletion. CONCLUSION: Hemizygotic deletion of elastin gene can be determined by FISH with new probe 244H3 in clinically suspected Williams syndrome patients.
Angiography ; Aortic Stenosis, Supravalvular ; Chromosomes, Artificial, Bacterial ; Chromosomes, Human, Pair 7 ; Clone Cells ; Echocardiography ; Elastin* ; Humans ; In Situ Hybridization, Fluorescence* ; Intellectual Disability ; Parents ; Williams Syndrome*