Supravalvular aortic stenosis and coronary ostial stenosis in homozygous familial hypercholesterolemia

Patients with homozygous familial hypercholesterolemia exhibit severe hypercholesterolemia, cutaneous and tendon xanthomata, and premature atherosclerosis from childhood. A rare presentation of this condition with supravalvular aortic stenosis and coronary ostial stenosis is described.     

Supravalvular aortic stenosis in adults

Supravalvular aortic stenosis in adults, in contrast to the form seen in infants and children, is usually not associated with mental retardation, peculiar facies or severe peripheral pulmonic stenosis. Subtle clinical findings serve to distinguish it from valvular aortic stenosis, a differentiation of great importance if surgery is a consideration. Diagnosis is made by aortic and left ventricular angiograms. The severity of the clinical disease correlates better with abnormalities of the coronary arteries than with the severity of the obstruction, although both are frequently significant. Once symptoms occur, the prognosis is poor without surgical correction. Surgical mortality rates are high, primarily as a result of incomplete preoperative diagnosis.     

Supravalvular aortic stenosis. Echocardiographic features.

The echocardiographic manifestations of segmental supravalvular aortic stenosis are described in 2 patients. The diagnosis was confirmed by cardiac catheterization in both and at operation in 1. A systematic echocardiographic approach to such patients is described. The characteristic finding in these patients was the narrowing of the diameter of the aortic lumen at the stenotic area just distal to the aortic valve. As the transducer sweeps further cephalad the aortic lumen widens to a normal diameter. In one patient treated surgically, postoperative echogram demonstrated the narrowing to be reduced.     

Supravalvular aortic stenosis. Report of clinical findings in 5 patients]

Five cases of supravalvular aortic stenosis (SAS) diagnosed by heart catheterization were studied in the Instituto Nacional de Cardiologia of Mexico. The clinic and laboratory data of interest of the differential diagnosis with other forms of obstruction of the left ventricle as follows: 1. Three cases had mental retardation and "elfin" face (SAS with specific psychophysical syndrome), the rest had a normal psyco-physical state without family antecedents (sporadic SAS). 2. The aortic focus was the epicenter of the expulsion murmur. In the phoncarodiographic study, two patients had protosistolic click and another had, in addition, a descending protodiastolic murmur (Int. I-IV). In the radial sphigmograms, one case had an amplitude difference in favor of the right side. 3. All had serum calcium figures within normal limits. 4. A chromosomatic analysis of preperipheral blood was performed on two patients, with normal results. 5. In the electrocardiogram, one case had right ventricular enlargement secondary to pulmonary arterial hypertension, due to stenosis of the main pulmonary arteries. 6. The radiologic study did not show dilatation of the ascending aorta and aortic bud in any case. 7. The angiocardiography showed: stenosis directly above the Valsalva sinuses; absence of dilatation or hypoplasia of the aorta above the stenosis; and the coronary network, indirectly opaqued, showed no abnormalities. One case had aortic coarctation and abnormal implantation of the right sublaviar artery, and another, stenosis of the right and left branch of its origen of the truncus of the pulmonary artery. The literature up to the present is reviewed and an anatomo-functional classification is proposed with the objective of including new varieties.     

Supravalvular aortic stenosis. Echocardiographic features.

The echocardiographic manifestations of segmental supravalvular aortic stenosis are described in 2 patients. The diagnosis was confirmed by cardiac catheterization in both and at operation in 1. A systematic echocardiographic approach to such patients is described. The characteristic finding in these patients was the narrowing of the diameter of the aortic lumen at the stenotic area just distal to the aortic valve. As the transducer sweeps further cephalad the aortic lumen widens to a normal diameter. In one patient treated surgically, postoperative echogram demonstrated the narrowing to be reduced.     

Supravalvular aortic stenosis in a twin.

A case of subvalvular aortic stenosis in one of a set of dissimilar twins is reported. The case is discussed in terms of the aetiological factors involved and supports the view that supravalvular aortic stenosis is not environmental and may be genetic in origin.     

Supravalvular and valvular aortic stenosis in homozygous familial hypercholesterolemia

Premature atherosclerosis with a particular predilection to the coronary arteries is a well-known complication of homozygous familial hypercholesterolemia. However, well documented involvement of the aortic root and valve with aortic stenosis has not been recognized frequently antemortem. Clinical, echocardiographic, hemodynamic and angiographic features of a case with valvular and supravalvular aortic stenosis secondary to homozygous familial hypercholesterolemia are described. Surgical relief of the left ventricular outflow obstruction was not attempted because of the patient's refusal.     

Supravalvular aortic stenosis: repair with the Yacoub procedure

Preservation and restoration of the aortic valve and root, as well as relief of the stenosis, is of paramount importance during surgical treatment of supravalvular aortic stenosis. A 23-year-old woman with a history of medically treated endocarditis presented with progressive fatigue and dyspnea on exertion. A diagnostic work-up revealed multiple stenoses and a small saccular aneurysm involving the diffusely hypoplastic ascending aorta, in addition to severe mitral regurgitation. The aortic root and ascending aorta were replaced using the Yacoub remodeling technique. Hemiarch replacement was performed under hypothermic circulatory arrest, and the mitral valve replaced. By using a remodeling technique, it was possible to augment the left sinus of Valsalva, to obtain the largest diameter at the sinotubular junction, and to adjust the spatial relationship of commissures that renders good leaflet coaptation. Although extended aortoplasty has been used widely for supravalvular aortic stenosis, the Yacoub procedure is a good option in diffuse type hypoplasia with multiple stenosis of the ascending aorta.     

Supravalvular aortic stenosis and peripheral pulmonary stenosis coexisting with a straight thoracic spine.

Supravalvular aortic stenosis (SVAS) is recognized in cases of Williams syndrome and in sporadic cases not associated with other features of the syndrome. It is also well recognized as associated with peripheral pulmonary stenosis (PPS). A male patient was diagnosed as having PPS at the age of 1 year and 8 months, and was found at the age of 18 years to have SVAS. Cardiac catheterization showed that he had a localized type of SVAS and regression of the PPS. Chest X-ray showed that he did not have the normal thoracic curvature. His 19-year-old sister had also been diagnosed with PPS, and his 43-year-old mother was known to have a harsh systolic cardiac murmur of unknown etiology. Cardiac magnetic resonance imaging showed a localized type of SVAS in his mother also, though not in his sister, both of whom had a somewhat straight thoracic spine, most noticeably in the mother, though not to the degree observed in the patient. This case appears to be familial, though it is not clear whether this skeletal abnormality is an unknown phenotypic feature of this cardiovascular disease.     

Cross-sectional echocardiographic characterization of aortic obstruction. 1. Supravalvular aortic stenosis and aortic hypoplasia

Cross-sectional echocardiographic and cineangiographic studies of the left ventricular outflow tract and ascending aorta were performed in five patients with supravalvular aortic stenosis (four hourglass and one hypoplastic). Visualization of the area of obstruction was possible in each patient using the cross-sectional system. In each case the echocardiographically determined diameter at the level of obstruction was within 3 mm of the similar angiographic value. Assessment of the extent of the lesion was possible in four of five cases. In three of these four cases the echocardiographic measurement was within 5 mm of the angiographic measurement while in the fourth the obstruction was felt to involve the total ascending aorta by both techniques. Determination of percent decrease in LVOT diameter from the aortic anulus to the level of obstruction was useful in defining obstruction and estimating severity. Cross-sectional echocardiography is a valuable noninvasive method for evaluating the ascending aorta in patients with supravalvular aortic stenosis.