Diagnosis of Supravalvular Aortic Stenosis by Transesophageal Echocardiography

The role of transesophageal echocardiography (TEE) in diagnosis of disorders of the thoracic aorta is well established. In this report the TEE findings in an adult patient with supravalvular aortic stenosis are presented. This showed narrowing of the ascending aorta just above the sinuses, due to fibromuscular thickening, causing an hour-glass shaped deformity. The excellent image quality obtained by TEE is far superior to transthoracic echocardiography. Coronary artery ostial obstruction a known association of supravalvular aortic stenosis can be caused by different mechanisms including adherence of the aortic valve leaflet to the ridge of obstructive muscle or premature atherosclerosis. TEE can define the mechanism of coronary artery ostial obstruction associated with supravalvular aortic stenosis.     

Echocardiographic diagnosis and follow-up for ALCAPA syndrome treated with the Takeuchi procedure

We present the case of an 18-year-old man with aborted sudden cardiac death. His initial echocardiogram suggested an anomalous origin of the left coronary artery from the pulmonary artery. Diagnosis was confirmed with coronary angiography. He underwent Takeuchi procedure and fully recovered. A two-year follow-up echocardiogram showed a moderate supravalvular pulmonary stenosis related to the transpulmonary baffle. The presence of extensive collateral circulation should raise suspicion of ALCAPA. Postoperative surveillance in this group of patients needs to be oriented in finding complications such as supravalvular pulmonary stenosis, aortic and pulmonary valve insufficiency, and baffle obstruction and leaks.     

Natural history of supravalvular aortic stenosis and pulmonary artery stenosis

Data from 35 patients with supravalvular aortic stenosis or pulmonary artery stenosis, or both, undergoing cardiac catheterization between 1973 and 1989 were analyzed retrospectively. Twenty-seven patients had supravalvular aortic stenosis: 11 required surgery after the first investigation and 8 (80%) of 10 others undergoing serial investigation showed an increase in the left ventricle to aorta pressure gradient. Angiographic measurements showed that the increase in the aortic pressure gradient was related to failure of normal growth of the ascending aorta lumen. Nineteen patients had pulmonary artery stenosis, with a right ventricular pressure greater than 33 mm Hg. At restudy, right ventricular pressure had decreased in 9 (82%) of 11 patients. This decrease in right ventricular pressure was associated with an increase in the systolic distensibility of the proximal pulmonary arteries, although there was no increase in the diastolic diameters. One patient had a rapid early increase in right ventricular pressure and no pulmonary artery growth. In two patients, multiple peripheral pulmonary artery stenoses became evident with time and produced persistent right ventricular hypertension. Supravalvular aortic stenosis is usually a progressive lesion, with an increase in left ventricular outflow tract pressure gradient related to poor growth of the ascending aorta. Pulmonary artery stenosis usually improves and only rarely limits prognosis.     

Congenital tubular supravalvular aortic stenosis with massive coronary artery dilatation in a 35-year-old man

Supravalvular aortic stenosis is a rare cause of left ventricular outflow obstruction in adults. It occurs as an isolated defect sporadically or on a hereditary basis with an autosomal dominant trait without further phenotypical anomalies, or as part of the Williams syndrome with mental retardation and multiple other anomalies. This lesion was proved to result from a defect of the elastin coding gene. Supravalvular aortic stenosis is frequently associated with cardiovascular defects, particularly of the peripheral pulmonary arteries, thoracic aorta, carotid, subclavian, and coronary arteries and the aortic valve. The coronary arteries are subject to an increased perfusion pressure leading to dilatation, tortuosity and accelerated arteriosclerosis. We give details of a 35-year-old patient in whom a previously asymptomatic supravalvular aortic stenosis is associated with an excessive dilatation of the right coronary artery and the left anterior descending coronary artery as well as an ostium stenosis of the left common carotid artery. The patient did not present any phenotypical anomalies of the Williams syndrome.     

Natural hemodynamic history of congenital aortic stenosis in childhood

The natural hemodynamic history of 37 patients with congenital aortic stenosis (18 valvular, 10 valvular with slight or moderate aortic insufficiency, 6 discrete subvalvular and 3 supravalvular) was documented by 2 catheterizations using the same methods of study. In the majority of patients with valvular, discrete subvalvular and supravalvular aortic stenosis the anomaly increased in severity, as evidenced by (1) a statistically significant increase in left ventricular peak systolic pressure, left ventricular to aortic peak systolic pressure gradient and arteriovenous oxygen difference; and (2) by a significant decrease in cardiac index and stenotic orifice area per square meter body surface area. The changes were more severe in patients with supra- and subvalvular stenosis. There were no statistically significant changes in aortic pressure, heart rate, systolic ejection period or wedge pressure. Left ventricular end-diastolic pressure increased significantly only in patients with discrete subvalvular aortic stenosis. Although the stenotic area index was lower in all patients without aortic insufficiency, absolute stenotic area decreased in only a small percentage.     

Intraortic pulse pressure is correlated with coronary artery stenosis

There is increasing evidence that peripheral pulse pressure measured at the brachial artery is a good predictor of coronary heart disease. However, the relation between pulse pressure and angiographically demonstrated coronary artery stenosis has not been fully elucidated. We designed the present study to investigate the association of the various components of blood pressure, such as systolic pressure, diastolic pressure, and pulse pressure of both peripheral and central arteries with angiographically determined coronary artery stenosis. Levels of aortic systolic pressure, aortic diastolic pressure, aortic pulse pressure, peripheral systolic pressure, peripheral diastolic pressure, and peripheral pulse pressure were determined in 323 patients who underwent diagnostic coronary angiography. Of these 323 patients, 215 patients had significant organic coronary artery stenosis. Aortic pulse pressure was significantly higher in patients with coronary artery stenosis (P = 0.0050). Aortic diastolic pressure was lower in patients with coronary artery stenosis (marginally significant, P = 0.0462). However, no statistically significant difference was observed between other blood pressure components and coronary artery stenosis. Multivariate analyses showed that aortic pulse pressure was associated with coronary artery stenosis independently of aortic diastolic pressure. Moreover, aortic pulse pressure was positively correlated with the number of vessels involved (P = 0.0024). The results of the present study indicate that aortic pulse pressure is significantly and independently correlated with angiographically determined coronary artery stenosis.     

Cross sectional echocardiographic assessment of the aortic root and coronary ostial stenosis in familial hypercholesterolaemia.

Aortic root abnormalities (atherosclerotic thickening and obstruction) seen at necropsy may readily be detected by aortography in familial hypercholesterolaemia. We studied 35 patients with familial types IIa and IIb hyperlipoproteinaemia including three homozygotes and 32 heterozygotes. Two homozygotes showed abnormal bright echoes (atheroma) encircling the proximal aortic root, which interfered with full excursion of the aortic cusps. One homozygote showed the typical echocardiographic features of supravalvular aortic stenosis at the superior border of the sinus of Valsava with normal aortic cusps. Cardiac catheterisation showed valvular gradients of 15 and 80 mm Hg in two homozygotes and a supravalvular gradient of 40 mm Hg in the third. Left coronary artery ostial stenosis was identified by echocardiography in all three homozygotes. Echocardiographic measurements of the aortic root in the 32 heterozygotes were similar to the control group, but 10 patients showed abnormal bright echoes within the aortic cusps and four had supravalvular changes similar to, but less severe than, the homozygotes. In one severely heterozygote supravalvular atheroma prevented full aortic cusp excursion, and this finding was confirmed during coronary artery bypass surgery.     

Localized dilatation of the bronchi. A misunderstood etiology of coronaro-bronchial fistula

The authors report the case of a coronary to bronchial artery anastomosis secondary to focal bronchiectasis. The diagnosis was made after finding large retroatrial vessels on coronary arteriography. A pulmonary steal syndrome, frequently reported in this condition in the literature, was not present in that particular case. The diagnosis of a coronary to bronchial artery anastomosis should alert the physician to possible underlying cardiac disease (Tetralogy of Fallot, supravalvular aortic stenosis, severe coronary artery disease). A bronchopulmonary etiology (chronic obstructive airways disease, multiple bullae, bronchiectasis) is less commonly found as the presentation is often atypical.     

Results of surgery for congenital supravalvular aortic stenosis.

Of eight children aged 3 to 15 years with surgical correction of severe supravalvular aortic stenosis, 6 were evaluated 7 to 44 months later by repeat cardiac catheterization and aortography. Prosthetic patch angioplasty was performed in all cases. Preoperative systolic gradients ranged from 40 to 90 mm Hg (average 70); postoperative gradients ranged from 0 to 20 mm Hg (average 11). The postoperative anglographic appearance of the ascending aorta was near normal in all six patients, and none had new aortic valve insufficiency. These results of surgery for supravalvular aortic stenosis are judged to be excellent.     

A family with a new elastin gene 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.     

Unstable angina with subvalvular aortic stenosis in a 65-year-old woman

We describe a case of 65-year-old woman with unstable angina, who was admitted to our institution. Physical examination revealed the presence of a systolic cardiac murmur. Transthoracic echocardiography showed subvalvular aortic stenosis. The patient underwent successful coronary artery by-pass surgery and myectomy surgery. Diagnosis and treatment of subvalvular stenosis coexistent with coronary artery disease are discussed.     

Relation between symptoms and profiles of coronary artery blood flow velocities in patients with aortic valve stenosis: a study using transoesophageal Doppler echocardiography.

OBJECTIVE: To analyse profiles of coronary artery flow velocity at rest in patients with aortic stenosis and to determine whether changes of the coronary artery flow velocities are related to symptoms in patients with aortic stenosis. DESIGN: A prospective study investigating the significance of aortic valve area, pressure gradient across the aortic valve, systolic left ventricular wall stress index, ejection fraction, and left ventricular mass index in the coronary flow velocity profile of aortic stenosis; and comparing flow velocity profiles between symptomatic and asymptomatic patients with aortic stenosis using transoesophageal Doppler echocardiography to obtain coronary artery flow velocities of the left anterior descending coronary artery. SETTING: Tertiary referral cardiac centre. PATIENTS: Fifty eight patients with aortic stenosis and 15 controls with normal coronary arteries. RESULTS: Adequate recordings of the profile of coronary artery flow velocities were obtained in 46 patients (79%). Left ventricular wall stress was the only significant haemodynamic variable for determining peak systolic velocity (r = -0.83, F = 88.5, P < 0.001). The pressure gradient across the aortic valve was the only contributor for explaining peak diastolic velocity (r = 0.56, F = 20.9, P < 0.001). Controls and asymptomatic patients with aortic stenosis (n = 12) did not differ for peak systolic velocity [32.8 (SEM 9.7) v 27.0 (8.7) cm/s, NS] and peak diastolic velocity [58.3 (18.7) v 61.9 (13.5) cm/s, NS]. In contrast, patients with angina (n = 12) or syncope (n = 8) had lower peak systolic velocities and higher peak diastolic velocities than asymptomatic patients (P < 0.01). Peak systolic and diastolic velocities were -7.7 (22.5) cm/s and 81.7 (17.6) cm/s for patients with angina, and -19.5 (22.3) cm/s and 94.0 (20.9) cm/s for patients with syncope. Asymptomatic patients and patients with dyspnoea (n = 14) did not differ. CONCLUSIONS: Increased pressure gradient across the aortic valve and enhanced systolic wall stress result in characteristic changes of the profile of coronary flow velocities in patients with aortic stenosis. Decreased or reversed systolic flow velocities are compensated by enhanced diastolic flow velocities, particularly in patients with angina and syncope. This characteristic pattern of the profile of coronary artery flow velocities in patients with angina or syncope may be useful for differentiating those patients from asymptomatic patients.     

Left ventricular apical aneurysm as a consequence of diffuse type congenital nonfamilial supravalvular aortic stenosis in a 30-year-old female

Congenital nonfamilial supravalvular aortic stenosis (SVAS) is relatively rare, its diffuse type being the least common. We present a 30-year-old woman with diffuse SVAS complicated with left ventricular apical aneurysm. We believe that subtle left ventricular myocardial ischemia or infarction and long-lasting severe pressure overload to the apical chamber caused LV apical aneurysm in our case. Acquired LV apical aneurysm secondary to supravalvular aortic stenosis, in the absence of atherosclerotic coronary artery disease and hypertrophic obstructive cardiomyopathy, has not been described before.     

Spectrum of findings in a family with nonsyndromic autosomal dominant supravalvular aortic stenosis: a Doppler echocardiographic study

Nonsyndromic familial supravalvular aortic stenosis is an autosomal dominant disorder. However, for many reported families, systematic study of all family members with echocardiographic or hemodynamic techniques has not been performed and degree of penetrance has not been assessed. The supravalvular stenosis in these family members usually is not associated with mental retardation or other characteristics of Williams syndrome. Although some believe that autosomal dominant supravalvular aortic stenosis is part of the spectrum of Williams syndrome, others believe that these are separate entities. Doppler echocardiograms were analyzed on 23 members of a 34 member family with several known to have supravalvular aortic stenosis; 20 studies were performed by the authors and 3 were done elsewhere and made available for review. No family member had mental retardation, characteristic facies or other findings of Williams syndrome. Three of the 34 had supravalvular aortic stenosis requiring surgery. Of 22 members examined echocardiographically who had not had prior surgical repair, 13 had supravalvular aortic stenosis. Echocardiographic findings ranged widely, from calcification of the ascending aorta in a 71 year old man with minimally increased flow velocity (1.7 m/s) to mild narrowing with mildly increased flow velocity in six members to significant narrowing with impressively increased flow velocity (2 to 4 m/s) in seven. In addition, four patients had mild narrowing of pulmonary artery branches and eight had peak pulmonary artery flow velocity above normal. This study demonstrates complete penetrance with extremely variable expression in this family with autosomal dominant supravalvular aortic stenosis and emphasizes the importance of using echocardiographic techniques in studying the family members who are suspected of having an inherited cardiovascular disease.     

Anomalous muscle band of the right ventricle. Part II: Report of six cases associated to other cardiac congenital malformations (author's transl)

Six cases of anomalous muscle band of the right ventricle associated to other cardiac congenital malformations are described. In five of them ventricular septum defect was present; in one aortic valvular stenosis with supravalvular diaphragm, plus right pulmonary artery stenosis. Modification in pathophysiology of ventricular septum defect due to the obstacle represents by the anomalous muscle band in the right ventricle are discussed in detail. In every case corrected diagnosis was suggested by right ventricle angiography.     

Noninvasive Evaluation of Coronary Flow Velocity Reserve in Homozygous Familial Hypercholesterolemia by Transthoracic Doppler Echocardiography

Objective: To evaluate the value of transthoracic Doppler echocardiography (TTDE) of the left anterior descending coronary for the detection of early abnormalities of coronary arteries in asymptomatic patients with homozygous familial hypercholesterolemia (HoFH). Methods: Seventeen asymptomatic patients with HoFH and 10 controls had plasma total cholesterol, low‐density lipoprotein (LDL) cholesterol, and triglycerides measured and underwent TTDE of their left coronary descending artery to determine peak and mean flow velocities under basal conditions and under hyperemia induced by adenosine infusion. Coronary flow velocity reserve (CFVR) was calculated from the mean flow velocities. The presence of aortic supravalvular stenosis was also determined from supravalvular flow velocity and aortic valve thickening values. Results: HoFH patients had similar basal but significantly lower hyperemic flow velocities and CFVR than control patients. Eight of the 17 HoFH patients had supravalvular aortic stenosis, and these patients had significantly higher LDL cholesterol and lower CFVR than those without this stenosis. Treatment with lipid‐lowering drugs lowered lipid levels and increased CFVR values, but neither of these parameters reached normal values. Conclusions: TTDE is a suitable noninvasive technique to detect early abnormalities of coronary arteries and to monitor the clinical efficacy of lipid‐lowering treatment in asymptomatic HoFH patients. Echocardiography 2010;27:985‐989)     

Cross-sectional echocardiographic localization of sites of left ventricular outflow tract obstruction

Real time two-dimensional echocardiographic studies of left ventricular outflow tract cross-sectional anatomy were obtained by the multicrystal echocardiographic method (Bom system) in 35 patients with various types of outflow obstruction as delineated by clinical, hemodynamic and angiographic studies. In each patient the noninvasive test allowed prediction of the site of obstruction. In valvular aortic stenosis, echocardiographic diagnostic findings included poststenotic dilatation of the ascending aorta, thickened aortic cusp tissue and increased superior-inferior cusp excursion (doming). The site of supravalvular aortic stenosis was readily observed although echocardiographic findings often underestimated the degree of obstruction recorded at cardiac catheterization. In patients with discrete subvalvular aortic stenosis, the major finding was a localized thickening of the septum and anterior mitral anulus producing a narrowing of the left ventricular outflow tract that was present in diastole and persisted throughout the cardiac cycle. The combination of discrete subvalvular and valvular aortic stenosis could be identified as well as mitral valve abnormalities associated with left ventricular outflow tract obstruction. Asymmetric septal hypertrophy and systolic anterior motion of the mitral leaflets were noted in six patients with idiopathic hypertrophic subaortic stenosis. This new echocardiographic approach allowed accurate localization of the site of left ventricular outflow tract obstruction and detection of associated malformations. The method has substantial merit as an initial test to establish diagnosis and allows more appropriate planning of a subsequent hemodynamic study.     

Supravalvular aortic stenosis. A 20-year clinical perspective and experience with patch aortoplasty

Supravalvular aortic stenosis has a wide range of clinical and morphologic expression. Since 1961, 25 patients (aged 1 to 49 years) with documented supravalvular aortic stenosis have been evaluated. Seven (28%) had Williams' syndrome, 5 (20%) had a familial form of supravalvular aortic stenosis, and 13 (52%) had a sporadic form. A blood pressure difference of greater than 10 mm Hg between the arms was noted in 65% of the patients. Angiographically, 19 (76%) had segmental supravalvular narrowing; 6 (24%) had diffuse narrowing of the ascending aorta. Sixteen patients underwent patch aortoplasty. At surgery, portions of the aortic valve cusps were frequently attached to supravalvular tissue. This "cusp tuck" resulted in distinctive angiographic features and influenced the results of corrective surgery. Three surgical deaths occurred in the early 1960s-2 with diffuse narrowing of the aorta. Of the remaining 12 patients, followed for 1 to 12 years, 10 are asymptomatic, 1 has angina, and 1 died from cancer. All 8 patients who underwent postoperative catheterization had a thick band between the left and right coronary sinus which represented persistent attachment of portions of the aortic valve cusps to residual supravalvular tissue (cusp tuck). This resulted in aortic valvular gradients (23 to 48 mm Hg) in 4 patients and aortic valvular insufficiency in 2 patients. No significant supravalvular gradient was noted. The 20-year experience with supravalvular aortic stenosis reported herein emphasizes a wide range of clinical and morphologic expression, the benefits and limitations of patch aortoplasty, and the importance of postoperative cardiac catheterization, and furthers the understanding of a complex clinical syndrome.     

Valvular and supravalvular aortic stenosis in heterozygous familial hypercholesterolemia, a case report

Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by a high level of LDL-cholesterol and frequent coronary atherosclerosis. We studied a 64 year old woman with heterozygous (hetero) FH, who showed symptoms of chest pain and dyspnea with no other coronary risk factors than post-menopause and hypercholesterolemia. Although her coronary symptoms didn't reveal significant stenosis on coronary angiography, she had severe aortic valvular and supravalvular stenosis at the ascending aorta, which qualified her for aortic valve replacement. Moreover, a coronary flow study revealed functional ischemia with a reduction of the coronary flow reserve. We report a case of valvular and supravalvular aortic stenosis corrected by aortic valve replacement, a rare complication of hetero FH.     

Congenital aortic supravalvular stenosis. Frequency and results of surgical treatment in a third level hospital

In a prospective study made between 1 September 1996 and 31 December 2001, pediatric patients with a diagnosis of supravalvular aortic stenosis confirmed by a reduction in the aortic inner diameter and a gradient > or = 50 mmHg were detected. Of 83 patients with aortic stenosis, only 7 (8.4%) had supravalvular aortic stenosis. All 7 patients underwent surgical treatment consisting of resection of fibrous tissue and reconstruction of the ascending aorta with a preclotted Dacron patch. One patient with severe, diffuse stenosis died and the another had perioperative heart failure, cardiac arrest and reversible neurological sequelae. A significant decrease in the postoperative gradient was obtained (p < 0.05). At present all surviving patients are free of symptoms. It was concluded that supravalvular aortic stenosis is infrequent in Mexico. In our experience, surgical treatment produced good results and success depended on the magnitude and type of stenosis.