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. 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.     

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.     

先天性主动脉瓣上狭窄的外科治疗

目的总结6例先天性主动脉辫上狭窄（SVAS）术前诊断和外科治疗中的经验、教训和疗效。方法2003年1月至2008年6月收治SVAS患者6例，男性3例，女性3例，年龄1．9-19．0（5．73±6．36）岁，局限性狭窄5例，弥漫性狭窄1例。Williams综合征3例，3例并发其他心脏畸形，其中1例同时合并动脉导管未闭、主动脉瓣下狭窄、主动脉瓣两叶畸形、二尖瓣狭窄关闭不全和细菌性心内膜炎，1例合并动脉导管未闭，还有1例合并肺动脉狭窄。术前超声心动图检查均有初步诊断，有2例患者手术前做了左心导管和造影，3例行64排螺旋CT扫描，对诊断和手术方案的确定很有意义。手术前检查发现跨狭窄环的压差为45-121mmHg。手术方法：单片法加宽3例，倒“Y”法3例，同期行主动脉瓣置换、二尖瓣置换、左室流出道疏通和动脉导管结扎1例，行肺动脉加宽1例，行动脉导管缝闭1例。结果本组手术无死亡，除合并细菌性心内膜炎及多种畸形的患者术后出现低心排和呼吸功能不全和感染，其余患者恢复顺利，所有患者痊愈出院。手术后有1例虽然主动脉瓣上狭窄解除理想，但是发现主动脉弓有弥漫性轻度狭窄。结论SVAS经术前超声心动图检查基本可以诊断，对Williams综合征患者术前应进行更为详细的检查，如果有条件应该考虑行无创伤的64排螺旋CT检查，可以发现合并的畸形如主动脉弓的病变，肺动脉狭窄等；一旦发现主动脉辫上狭窄应该积极手术治疗，否则可能引起心律失常和猝死。SVAS的手术治疗效果良好，目前不主张应用单片法进行矫治。     

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.     

Familial hypercholesterolemia supravalvular aortic stenosis and extensive atherosclerosis

Familial hypercholesterolemia is an autosomally dominant disorder caused by various mutations in low-density lipoprotein receptor genes. This can lead to premature coronary atherosclerosis and cardiac-related death. The symptoms are more severe in the homozygous type of the disease. Premature malignant atherogenesis leading to aortic root abnormalities causing supravalvular aortic stenosis is rare. Our case demonstrates the diagnostic imaging findings of the phenotype of patients who have severe elevated LDL with familial hypercolesterolemia.     

Echocardiographic features of combined membranous subaortic stenosis and acquired calcific aortic valvulopathy

The M-mode echocardiographic features of aortic valve structure and motion in a 45-year-old male with combined congenital subaortic diaphragm and acquired deformity of the aortic valve are described. Clinical, hemodynamic, and angiographic studies suggested calcific aortic valve disease with stenosis and insufficiency, but the additional presence of a subaortic diaphragm was not appreciated. Cardiac ultrasonography demonstrated multiple, central diastolic aortic valve cusp echoes consistent with a thickened, calcified, tricuspid aortic valve. Despite calcification of the cusps, however, enough systolic cusp excursion remained to demonstrate an early systolic, rapid movement toward closure of the right coronary cusp-a finding suggestive of fixed subvalvular obstruction. Surgery confirmed a discrete subaortic diaphragm and a tricuspid, thichened, mildly calcified aortic valve with fusion of the cusp commissures at their origins and rolling back of the cusp edges. The value of echocardiography in the evaluation of the left ventricular outflow tract and aortic valve is emphasized.     

Mitral regurgitation without supravalvular aortic stenosis in Williams syndrome

Isolated mitral regurgitation without supravalvular aortic stenosis is rarely identified in Williams syndrome. We describe the case of a 24-year-old man with isolated mitral regurgitation in Williams syndrome. Severe regurgitation due to prolapse of the anterior leaflet was noted in an echocardiogram and color Doppler, and a left ventriculogram showed grade IV regurgitation. No pressure gradient between the left ventricle and the ascending aorta was found. Mitral regurgitation had been noted since his birth, and pediatricians suspected Williams syndrome because of postnatal growth deficiency, mental deficiency, unusual personality, and unusual facial features in his childhood. The diagnosis was confirmed by demonstration of the hemizygous deletion of 7q11.23 in the karyotype by the fluorescent in situ hybridization technique after his admission to our department. The patient underwent mitral valve replacement, and microscopic examination of the excised valve revealed myxomatous degeneration. Received: April 10, 2002 / Accepted: June 21, 2002 Acknowledgment Grateful acknowledgment is given to Emeritus Professor Dr. K. Inada, Gifu University, for his review of the pathologic slides. Correspondence to H. Takagi     

Acute supravalvular aortic stenosis following the replacement of the ascending aorta.

We report a very rare case of ascending aortic replacement complicated by acute supravalvular aortic stenosis. A 53-year-old man was referred to our Institution for evaluation of a systolic murmur and congestive heart failure. He had undergone elective ascending aortic replacement one month previously due to acute type A aortic dissection. On admission, transesophageal echocardiography revealed a proximal leak with a pseudoaneurysm compressing the aortic graft and generating a systolic gradient of 84 mmHg. The patient underwent reoperation, the graft was removed and a new Dacron graft was put in place.     

Echocardiographic features of congenital mitral stenosis

The effects of 1 hour of occlusion of the left anterior descending coronary artery and subsequent reperfusion were studied for 3 hours in anesthetized closed chest pigs using an intracoronary balloon occluding technique. In 12 pigs subjected to reperfusion, S-T segment elevation decreased to control levels within 30 minutes and was significantly less than in 10 control pigs without reperfusion (P < 0.05). R wave amplitude was unaffected by the reperfusion. The more rapid fall of S-T segments in the reperfused group was accompanied by major hemorrhage in all reperfused hearts; hemorrhage occurred in only one control heart. The extent of hemorrhage was quantified and was significantly greater in the reperfused than in the control group (P < 0.01). Hemorrhage after reperfusion was unaffected by mannitol-induced increase in serum osmolallty but was greatly decreased by limitation of the occlusion period to 15 minutes. Myocardial wall motion was quantified angiographljcally. Shortening fraction of the area of the left ventricle most severely affected by occlusion decreased to similar levels in both groups. After reperfusion it remained similar in both groups at three hours. Adjacent left ventricular areas were likewise unaffected by reperfusion.This study thus documents the occurrence of postreperfusion myocardial hemorrhage in an animal with a coronary circulation similar to man's. Hemorrhage is directly related to the duration of occlusion but appears to be unaffected by mannitol given before reperfusion. Caution is advised both during bypass surgery, in which occlusion and reperfusion occur, and In efforts to restore coronary blood flow during acute myocardial infarction.     

Echocardiographic diagnosis of aortic subvalvular stenosis]

Seventeen patients with idiopathic hypertrophic subaortic stenosis were examined by the M-method of echocardiography with the "Ekoline 20-A" apparatus. In all patients the interventricular septum was hypertrophied asymmetrically within limits of 15-22 mm, 17 mm on the average. The ratio of the thickness of the interventricular septum and that of the left-ventricular posterior wall amounted to 1.4-1.9, 1.6 on the average. The amplitude of movements of the interventricular septum did not exceed 3 mm and the degree of its systolic thickening ranged between 0 and 28%, being 13% on the average. In 16 patients there was anomalous systolic movement of the anterior mitral cusp to the front taking up an average of 56% of the time of the left-ventricular systole. The rate of early diastolic closure of the anterior mitral cusp was diminished from 37 to 58 mm/sec. Midsystolic closure of the aortic valve coinciding with maximum systolic murmur was noted in 9 patients. The left atrium was enlarged in 5 patients, one of whom developed atrial fibrillation. Intensification of symptoms of left-ventricular obstruction in amyl nitrite inhalation and in the first postextrasystole complex was noted. Treatment with propranolol in a dose of 60-120 mg for 3 to 9 months caused no changes in the echocardiogram.