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

Discrete subvalvular aortic stenosis is a relatively uncommon cause of the left ventricular outflow obstruction, requiring early intervention. Conventional transthoracic echocardiography may fail in some patients due to insufficient imaging quality. In particular, in patients with a discrete fibrous membrane close to the aortic valve without narrowing of the left ventricular outflow tract, the echocardiographic detection of the membrane may be difficult. Transesophageal echocardiography allows a clear visualization of the aortic valve and the left ventricular outflow tract in virtually all patients, it can be performed rapidly with almost no risk, and it may therfore be helpful in establishing the diagnosis of discrete subaortic stenosis, in particular in patients where the conventional transthoracic approach fails. We have experienced two cases of discrete subaortic stenosis. One case of them was combined with hypertrophic obstructive cardiomyopathy in this report we discussed the utility of multiplane transesophageal echocardiography in patients with discrete subvalvular aortic stenosis.
Aortic Stenosis, Subvalvular* ; Aortic Valve ; Cardiomyopathy, Hypertrophic ; Diagnosis ; Discrete Subaortic Stenosis ; Early Intervention (Education) ; Echocardiography* ; Echocardiography, Transesophageal ; Humans ; Membranes ; Ventricular Outflow Obstruction

BACKGROUND: Discrete subaortic stenosis is known to recur frequently even after surgical resection. We retrospectively reviewed the preoperative and postoperative changes in pressure gradient through left ventricular outflow tract, and the recurrence rate. MATERIAL AND METHOD: Between September 1984 and December 2004, 34 patients underwent surgical treatment. Mean age of patients was 17.1+/-15.2 years and 19 patients (55.9%) were male. 16 patients (47.1%) had previous operations and associated diseases were aortic regurgitation (11), coarctation of aorta (3), and others. RESULT: Immediate postoperative peak pressure gradient was significantly lower than preoperative peak pressure gradient (21.8 mmHg vs 75.8 mmHg, p<0.01). Peak pressure gradient measured after 50.3 months of follow up was 20.2 mmHg, which was also significantly lower than that of preoperative value but not significantly different from that of immediate postoperative value. There was no surgical mortality but one patient developed cerebral infarction. Mean follow up duration was 69.8+/-54.6 months. During this period, 5 patients (14.7%) had reoperation, 3 (8.8%) of whom were due to recurred subaortic stenosis. We found no risk factors for recurrence and survival for free from reoperation was 76.4%. CONCLUSION: Excision of subaortic membrane combined with or without myectomy in discrete subaortic stenosis showed sufficient relief of left ventricular outflow tract obstruction with low mortality and morbidity, but careful long term follow up is necessary for recurrence, since it is not predictable.
Aortic Coarctation ; Aortic Stenosis, Subvalvular ; Aortic Valve Insufficiency ; Cerebral Infarction ; Constriction, Pathologic ; Discrete Subaortic Stenosis* ; Follow-Up Studies ; Humans ; Male ; Membranes ; Mortality ; Recurrence ; Reoperation ; Retrospective Studies ; Risk Factors

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

Supravalvular aortic stenosis is an uncommon, congenital narrowing of the ascending aorta which originates just distal to the level of the ostium of the coronary artery. We conducted a successful surgical treatment in a 39 year- old female patient with a congenital supravalvular aortic stenosis and aortic regurgitation who did not show signs of William's syndrome. After we performed an inverted Y-shaped aortotomy toward the noncoronary sinus and right coronary sinus, pantaloon shaped prosthetic patch(Vascutek, Ino, USA) was used to repair the narrowing sinotubular junction. The aortic valve was replaced concommittently using Sorin Bicarbon 19mm. Her postoperative course was uneventful. The patient discharged at 9th postoperative day in good health.
Aorta ; Aortic Stenosis, Supravalvular* ; Aortic Valve ; Aortic Valve Insufficiency* ; Coronary Sinus ; Coronary Vessels ; Female ; Humans

Combined double chambered right ventricle(DCRV) and discrete subaortic stenosis(DSAS) is a rare entity on which only 12 cases have been reported in the literature. We presented a case of combined DCRV and DSAS in an 18 year old girl. She had type II(thin membranous type) DSAS and the peak systolic prssure gradient between aorta and left ventricle was 38 mmHg. Aberrant muscle bundle was found on the right ventriculography and the pressure gradient in the right ventricle was 35 mmHg. She also had aortic regurgitation, persistent left sided superior vena cava and extracardiac malformations such as kyphoscoliosis and congenital cloacal anomaly.
Adolescent ; Aorta ; Aortic Valve Insufficiency ; Discrete Subaortic Stenosis* ; Female ; Heart Ventricles* ; Humans ; Vena Cava, Superior

Supravalvular aortic stenosis may be defined as an obstructive congenital deformity of the ascending aorta which originates just distal to the level of the origins of the coronary arteries. It may be localized or diffuse, and includes a wide spectrum of pathologic changes. A 16 years old school boy was admitted because of exertional dyspnea for 6 years. Clinical diagnosis of supravalvular and valvular aortic stenosis with bicuspid aortic valves and myocardial hypertrophy was made by echocardiography and angiocardiography. Surgical correction was performed successfully. We presented a case of supravalvular and valvular aortic stenosis with a review of literatures.
Adolescent ; Angiocardiography ; Aorta ; Aortic Stenosis, Supravalvular ; Aortic Valve ; Aortic Valve Stenosis* ; Bicuspid ; Congenital Abnormalities ; Coronary Vessels ; Diagnosis ; Dyspnea ; Echocardiography ; Humans ; Hypertrophy ; Male

Twenty patients with congenital aortic stenosis excluding valvular stenosis were studied beween April 1980 and April 1984 at Seoul National University Hospital. The clinical and radiologic findings with the emphasis on the cineangiographies were analyzed separately according to the type of aortic stenosis as subaortic and supravalvular aortic stenosis. The summaries of the analysis are as follows: 1. Among the 20 cases, 12 cases were subaorticstenosis and 8 cases were supravalvular stenosis. 2. The anatomic types of subaoritc stenosis were the discrete membranous type (8 cases), the fibromuscular type (2 cases) and the tunnel type (2 cases). 3. The obstruction of subaoritic types was usually severe, and the median left ventricular to aortic systolic pressure gradient was 60mmHg, and associated cardiac defects were found in 10 cases (84%), an incidence greater than that reported in mostother large series. 4. The anatomic types of 8 cases of supravalvular aortic stenosis were mainly focal type (7cases ) and 1 case of diffuse hypoplastic type. 5. The median left ventricular to aortic systolic pressure gradient of supravalvular stenosis was 75mmHg, and associated anomalies were seen in 6 cases(75%) with 3 cases of suspected mental retardation and facial abnormalities without definite hypercalcemia. 6. For accurate diagnosis of congenital aortic stenosis, retrograde left ventricular angiograms obtainend in axial pojections are of crucial importance in demonstration of anatomic types of stenosis and associated anomalies. And supravalvular aortic injection is sometimes helpful to outline the anatomy of the valve and to evaluate the degree of aortic regurgitation.
Aortic Stenosis, Supravalvular ; Aortic Valve Insufficiency ; Aortic Valve Stenosis ; Blood Pressure ; Cineangiography ; Constriction, Pathologic ; Diagnosis ; Humans ; Hypercalcemia ; Incidence ; Intellectual Disability ; Seoul

Williams syndrome is a congenital disorder characterized by mental retardation, loquacious personalities, dysmorphic face, and vascular and valvular abnormalities. The etiology of this syndrome was one allelic loss of elastin gene, exhibiting a submicroscopic deletion, at 7q11.23. Sudden death is an infrequently recognized complication. The mechanism of sudden death is explained by myocardial ischemia, decreased cardiac output, and arrhythmia by anatomical abnormality of coronary artery stenosis and severe biventricular outflow tract obstruction. We report an autopsy case of a 80 day-old male with Williams syndrome. Five days before admission, cardiac murmur was detected incidentally on ascultation at a local clinic during a visit for vaccination. He was transferred to our hospital and cardiac catheterization was done. He died suddenly next day. Postmortem examination revealed a dysmorphic face and multiple cardiovascular abnormalities including supravalvular aortic stenosis with narrowed coronary artery ostia, supravalvular pulmonic stenosis, secundum type of atrial septal defect, right ventricular hypertrophy, and renal artery stenosis. Histologically, aorta and pulmonary, bronchial, and renal arteries showed markedly hyperplastic medial elastic laminae approximately three times thick compared to those of age-matched normal artery. The elastic fibers of the innermost two thirds of media were disposed in a normal orderly parallel fashion. In outer third of the media, the elastic fibers had lost the normal orderly arrangement.
Aorta ; Aortic Stenosis, Supravalvular ; Arrhythmias, Cardiac ; Arteries ; Autopsy* ; Cardiac Catheterization ; Cardiac Catheters ; Cardiac Output ; Cardiovascular Abnormalities ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Coronary Stenosis ; Coronary Vessels ; Death, Sudden ; Elastic Tissue ; Elastin ; Heart Murmurs ; Heart Septal Defects, Atrial ; Humans ; Hypertrophy, Right Ventricular ; Infant* ; Intellectual Disability ; Loss of Heterozygosity ; Male ; Myocardial Ischemia ; Pulmonary Valve Stenosis ; Renal Artery ; Renal Artery Obstruction ; Vaccination ; Williams Syndrome*