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.

Pulmonary blood supply in patients with pulmonary atresia and ventricular septal defect.

The heart and lung specimens in 31 cases of pulmonary value atresia and ventricular septal defect were studied at autopsy. Three types of natural arterial blood supply to the lungs were identified: 1) ductus arteriosus (patient or ligamentous) (12 cases); 2) major collateral arteries (20 cases); and 3) diffuse small pleural arterial plexus coexisting with either ductus arteriosus or major collateral arteries (17 cases). The ductus arteriosus and major collateral arteries did not coexist in the same lung in these cases. Confluent central pulmonary arteries were present in 22 (71%) of the 31 cases, involving 7 (58%) of the 12 cases of ductus arteriosus, 14 (70%) of the 20 cases with major collateral arteries and 1 case with an aorticopulmonary window. The pulmonary trunk (atretic or patent) was identifiable in 24 (77%) of the 31 cases. A lung or lungs that connected to a ductus (or ligamentum) had a complete and unifocal intrapulmonary arterial distribution (without arborization abnormalities). Major collateral blood supply was frequently multifocal and associated with arborization abnormalities. The size of the central pulmonary arteries was not related to the type of arterial blood source but seemed to be related to the amount of blood flow actually reaching the vessels, This study demonstrated a complex systemic arterial system supplying the lungs in these cases. The size, sources and relation among the ductus, the pulmonary artery confluence, the large and small collateral vessels and the intrapulmonary system are far more varied than has ever been reported previously. Careful and thorough premortem studies are crucial if surgical intervention is contemplated.

Improved early morbidity and mortality after Fontan operation: the Mayo Clinic experience, 1987 to 1992.

OBJECTIVES: This study sought to evaluate changes in early morbidity and mortality as well as predictors of outcome in our most recent 339 patients undergoing modified Fontan operations. BACKGROUND: The Fontan operation is the preferred definitive palliation for patients with functional single ventricles. Previously reported early mortality rates after Fontan operation have been substantial. METHODS: Records of 339 consecutive patients who had a Fontan operation at the Mayo Clinic between 1987 and 1992 (recent cohort) were reviewed. This cohort was compared with the previous 500 patients who had Fontan operations performed between 1973 and 1986 (early cohort). RESULTS: Recently, overall early mortality after Fontan has decreased significantly compared with that for the early cohort (from 16% to 9%, p = 0.002). This decline occurred despite increased anatomic complexity of patients. Short-term posthospital survival has also improved significantly in recent patients. One-year survival improved to 88% from 79%, and 5-year survival to 81% from 73% (p = 0.006). Patients with common atrioventricular valves and those who took daily preoperative diuretic medication or had either postoperative renal failure or elevated postbypass right atrial pressure were at increased risk for early mortality. Young age was not found to be a risk factor for early mortality. Early mortality for patients with heterotaxia decreased dramatically: recent 30-day mortality was 15% compared with 41% in the early heterotaxy cohort. CONCLUSIONS: Many factors may have contributed to decreased early mortality after Fontan. Improved patient selection, younger age at time of operation, refinements in surgical techniques and postoperative management may all have had important roles. Proposed technical modifications of the Fontan operation must be evaluated in light of these improved results.

Velo-cardio-facial syndrome associated with ventricular septal defect, pulmonary atresia, and hypoplastic pulmonary arteries.

We report on 15 patients with velo-cardiofacial syndrome who had a severe form of tetralogy of Fallot (pulmonary atresia, ventricular septal defect, and hypoplastic pulmonary arteries). Noncardiac anomalies in these patients included typical facial and ear anomalies in 15, nasal speech in 13, palate anomalies in 10, and developmental delay in 10. Seven patients had significant bronchospasm, which has not been reported in association with the velo-cardio-facial syndrome. All 15 patients had severe abnormalities of the arborization of the pulmonary arterial tree, which also has not been reported in velo-cardio-facial syndrome. All patients underwent staging operations to prepare the true pulmonary vascular tree for complete repair of the defect (five underwent complete repair and three survived). Of the remaining 10 patients, 6 are awaiting further operation, 3 are not candidates for complete repair, and 1 has died.

Imaging of platelets in right-sided extracardiac conduits in humans.

As a connection between the systemic venous ventricle and the pulmonary artery, valved Dacron extracardiac conduits have remarkably influenced the surgical approach to many complex congenital heart defects. Obstruction of the conduit, however, can reduce the long-term effectiveness of this corrective procedure. In addition to stenosis of the porcine valve, formation of thick fibrous neointima plays a major role in the pathogenesis of conduit obstruction. The purpose of this study was to determine whether platelet deposition could be demonstrated in these conduits by external imaging with In-111-labeled autologous platelets. After injection of labeled platelets either immediately after operation or on the fifth to eighth postoperative day, imaging was performed by standard procedures. Eight of nine patients had platelet accumulation in the conduit, and treatment with aspirin and dipyridamole caused no recognizable change in platelet deposition. This study demonstrates the feasibility of imaging platelet deposition in Dacron conduits and shows that the pattern of deposition varies with time.

Truncus arteriosus and previous pulmonary arterial banding: clinical and hemodynamic assessment.

Twenty-seven patients with truncus arteriosus and previous pulmonary arterial banding were evaluated 1 1/2 to 14 years (mean 7 years) after banding. Ages at the time of cardiac catheterization ranged from 3 to 18 years (mean 9 years). Current symptoms were severe in five patients and were related to truncal valve incompetence or decreased pulmonary blood flow (or both) rather than to age, duration of palliation or band location. Twenty-one of 22 patients with two pulmonary arteries were considered to be in a hemodynamically operable state at the time of study. The condition of three of five patients with a single pulmonary artery was subsequently found inoperable because of severe pulmonary vascular disease in the lung supplied by the single pulmonary artery. In patients with two pulmonary arteries, demonstration of low pressure in at least one normal-sized pulmonary artery established operability. Postoperative pressure measurements correlated well with preoperative prediction of operability, with 19 of 20 patients having a pulmonary arterial pressure less than 70 percent of systemic levels after repair. Bilateral pulmonary arterial binding may be more effective than central arterial banding (which frequently produces severe obstruction to the right pulmonary artery) in preventing pulmonary vascular obstructive disease in patients with truncus arteriosus who have two pulmonary arteries. Patients with truncus arteriosus and a single pulmonary artery with pulmonary arterial banding remain at high risk for the development of pulmonary vascular obstructive disease.

Double outlet right ventricle: hemodynamic and anatomic correlations.

There are 16 possible variations of double outlet ventricle with regard to interrelations of the great arteries and to location of the ventricular septal defect. In a series of 62 cases, approximately two thirds of patients had the great arteries in a side by side relation, and most (28 of 41) had the ventricular septal defect in a subaortic position. In double outlet right ventricle with malposition of the great arteries, the ventricular septal defect was either subpulmonary or subaortic. Four of the 13 patients with subpulmonary ventricular septal defect had a supracristal defect with side by side relation of the great arteries (Taussig-Bing anomaly), and 9 patients had malposition of the great arteries with an infracristal ventricular septal defect. In all patients with subpulmonary ventricular septal defect, pulmonary arterial oxygen saturation was greater than systemic arterial saturation regardless of the relation of the great arteries. Forty patients had subaortic ventricular septal defect. In 24 of these patients, including 7 with malposition of the great arteries, systemic arterial oxygen saturation was greater than pulmonary arterial saturation. However, in 9 patients (25 percent) the reverse was true, as seen in complete transposition of the great arteries and in Taussig-Bing anomaly. Thus, pulmonary arterial oxygen saturation greater than systemic arterial saturation is not reliable evidence of a Taussig-Bing anomaly. Of the 25 patients with such saturation, only 4 had the Taussig-Bing anomaly.

Impact of 2-Dimensional echocardiography on the management of distressed newborns in whom cardiac disease is suspected.

The course and management of 40 consecutive newborns (aged less than 2 weeks) who presented with signs and symptoms of congenital heart disease were reviewed to determine the impact of 2-dimensional (2-D) echocardiography on their subsequent management. Of the 40 patients with congenital heart disease, 60% did not undergo cardiac catheterization. Forty-two percent of the patients who were treated surgically went directly to operation without preoperative cardiac catheterization. Only 40% of the patients with congenital heart disease required cardiac catheterization in the newborn period, and 43% of these procedures were primarily therapeutic (that is, balloon atrial septostomy). In each patient 2-D echocardiography correctly identified the major cardiac malformation and there was good agreement with angiographic, surgical, and autopsy findings. The most commonly overlooked defect was a patent ductus arteriosus. Thus, 2-D echocardiography not only allows diagnosis of congenital heart disease in the newborn but can expedite clinical management. No longer is cardiac catheterization necessarily the primary means for an anatomic diagnosis of congenital cardiac malformations in the newborn.

Neonatal pneumopericardium.

Three cases of neonatal pneumopericardium are presented. Detailed ventilatory measurements and chest roentgenographic changes are described for each of the three patients. The literature of neonatal pneumopericardium is reviewed, and based on that review and our own cases, we offer guidelines for managing these patients.

Long-term psychologic implications of congenital heart disease: a 25-year follow-up.

Patients with various types of congenital heart disease were contacted 25 years after their original examination at the Mayo Clinic. In addition to providing their current health status, level of education achieved, and current occupation, they were asked to complete a detailed standardized questionnaire to assess their degree of psychologic stress. Of the original 463 patients, 168 completed and returned the psychologic questionnaires. These patients had evidence of psychologic stress in excess of that expected on the basis of normative data. Furthermore, the degree of stress was unrelated to the clinical severity of the original cardiac defect. In addition, the psychologic stress occurred despite "success" as defined by educational achievement and occupational level. One can speculate that as children these patients were exposed to environmental stresses that may well have been colored by parental attitudes and perceptions.

Protein-losing enteropathy after the Fontan operation: successful treatment by percutaneous fenestration of the atrial septum.

Protein-losing enteropathy (PLE) after the Fontan operation is a life-threatening complication that may be refractory to medical therapy. Herein we describe a percutaneous atrial fenestration that was performed in a 42-year-old man with a double-inlet left ventricle who had undergone a Fontan operation 9 years earlier. Severe PLE developed, and despite frequent infusions of protein, his albumin level was 1.8 g/dL. The diagnosis of PLE was confirmed by an alpha(1)-antitrypsin clearance of 425 mL in 24 hours (normal 27 or less). Percutaneous atrial fenestration resulted in dramatic clinical improvement and resolution of the PLE. At 5-month follow-up, the patient's albumin level was 4.2 g/dL, his alpha(1)-antitrypsin clearance was normal, and he was free of ascites and edema.

The use of the percutaneous subclavian technique for permanent cardiac pacing in childhood.

The use of the percutaneous subclavian approach for permanent tranvenous cardiac pacing is described in an 8.6-kg, 18-month-old child with symptomatic congenital heart block. This approach may facilitate the use of permanent transvenous cardiac pacing in infancy and childhood.

Management of hemophilia A and B during surgical correction of transposition of the great arteries.

Two patients--one an infant and the other an adolescent--with transposition of the great arteries and hemophilia underwent a successful major reconstructive open-heart surgical procedure. Despite a severe coagulation deficiency, a major reconstructive cardiac operation was performed with the use of a detailed replacement plan, which took into consideration the potency of the replacement material and its potential hazards, biologic half-life, and anticipated in vivo recovery on the basis of the patient's plasma volume. To our knowledge, these are the first reports of successful surgical repair of this type in patients with severe coagulation factor deficiency.

Double-outlet right ventricle. Anatomic and angiocardiographic correlations.

A series of 72 patients with proved double-outlet right ventricle was studied with reference to the ability of angiocardiography to determine the location of a ventricular septal defect when it was associated with various great-artery relationships. Only 2 of the 72 patients had an intact ventricular septum. The other 70 patients had 16 possible anatomic variations based on four positions of the ventricular septal defect (subaortic, subpulmonary, subaortic and subpulmonary, and remote type) and four great-artery relationships (normal, side by side, dextromalposition, and levomalposition). Using the hemodynamic information regarding systemic and pulmonary arterial saturations, combined with biplane angiocardiographic data from the right ventricle (and if possible with left ventriculography), one can predict the location of ventricular septal defect. Because the different types of double-outlet right ventricle have different surgical approaches, this information can be important to the surgeon.

Use of heparin in the treatment of protein-losing enteropathy after fontan operation for complex congenital heart disease.

Protein-losing enteropathy (PLE) is a serious complication of the Fontan operation and is associated with pronounced mortality. Medical management of PLE has been only partially successful. A recent report noted dramatic improvement in patients with PLE within 3 weeks of subcutaneous administration of heparin. We report a case of reversal of PLE with resolution of clinical symptoms and normalization of serum albumin, total protein, and fecal alpha1-antitrypsin values after several months of heparin treatment. Our findings substantiate those recently reported but suggest that reversal of PLE may necessitate more than a few weeks of heparin therapy.

Serum levels of creatine phosphokinase and its isoenzymes in normal and stressed neonates.

Twenty-six normal newborns (13 male, 13 female) with normal prenatal histories, no perinatal stress, and normal vaginal deliveries had creatine phosphokinase (CPK) activity and isoenzyme activities assayed in cord blood and in 24-hour postpartum serum. Total CPK activity was high in cord blood when compared with adult control values. Moreover, the total CPK was significantly higher in serum at 24 hours of age compared with cord blood. There was a significant increase in both the skeletal muscle isoenzyme and the cardiac muscle isoenzyme from birth to 24 hours of age. There was a decrease in the brain isoenzyme at 24 hours of age which was not statistically significant. These results were compared with values obtained in a group of 10 neonates with severe cardiac problems. Three of the ill neonates had significant elevation of total serum CPK and the skeletal muscle isoenzyme when compared with the normal newborns. There were no significant differences between the normal infants and the ill neonates for the cardiac isoenzyme and the brain isoenzyme. These data suggest that caution should be used in the diagnosis of certain neonatal cardiac syndromes based on serum CPK levels and isoenzyme alone.

Enteric protein loss after the Fontan operation.

OBJECTIVE: The current study was undertaken to assess the frequency of excessive enteric protein loss and protein-losing enteropathy in the relatively early period after the Fontan operation. DESIGN: Protein excretion was determined in 26 of 27 consecutive patients who underwent the Fontan procedure between January and June 1990 at the Mayo Clinic. MATERIAL AND METHODS: At two testing intervals during the first 4 months after the Fontan operation, alpha 1-antitrypsin clearance and fecal alpha 1-antitrypsin concentration studies were done. RESULTS: All results were normal for the first postoperative test period (2 to 8 weeks). For the second study period, all 17 patients tested had normal alpha 1-antitrypsin clearances. One of the 17 patients had an appreciably increased fecal alpha 1-antitrypsin concentration and transient protein-losing enteropathy. CONCLUSION: Excessive enteric protein loss and protein-losing enteropathy are relatively uncommon during the first 4 months after the Fontan operation.

Primary cardiac myxosarcoma in a child.

This is a detailed clinical and autopsy documentation of a rare entity--primary cardiac myxosarcoma in a 29-month-old girl. The patient had sudden onset of right hemiplegia and angiographic evidence of multiple occlusions of the left middle cerebral artery. Subsequent M-mode and sector echocardiography showed a mobile, pedunculated left atrial tumor, which was excised. No other tumor mass was noted at the time of surgical exploration, and postoperatively, the patient received a course of chemotherapy (vincristine, dactinomycin, and cyclophosphamide). After a temporary improvement in her condition, the patient died following several days of rapid deterioration; this was 3 months after the onset of symptoms. Autopsy showed that death was due to brainstem herniation secondary to massive infiltration of the brain by tumor, and there were also widespread systemic metastases.

Aortico-left ventricular tunnel: diagnosis based on two-dimensional echocardiography, color flow Doppler imaging, and magnetic resonance imaging.

Aortico-left ventricular tunnel is a rare congenital cardiac lesion that often results in severe aortic insufficiency in infancy. In previously reported cases, the diagnosis has often been missed initially despite use of cardiac catheterization and angiography. We describe a patient who underwent successful surgical correction of this malformation at 10 months of age after the diagnosis had been established by use of two-dimensional echocardiography, color flow Doppler imaging, and magnetic resonance imaging. Aortico-left ventricular tunnel can be diagnosed by use of these noninvasive means without cardiac catheterization.

Autosomal dominant supravalvular aortic stenosis: large three-generation family.

Supravalvular aortic stenosis (SVAS) can be inherited as an isolated autosomal dominant trait or can be a component manifestation of the Williams syndrome. Some consider the Williams syndrome to be due to more severe expression of the gene defect that causes isolated SVAS. We describe a family with isolated SVAS that is the largest thoroughly studied family with this disorder to our knowledge; no patients in this family had Williams syndrome. Five members of this family were reported by Lewis et al. (Dis Chest 55:372-379, 1969). We reevaluated this family and now include examinations of the parents, additional sibs and children of the original 5 patients. Twenty relatives had physical and echocardiographic examinations. In addition, information from outside sources was obtained on 7 relatives not personally evaluated. The SVAS showed marked variability of expression and was not associated with mental retardation or with the facial manifestations of Williams syndrome. We think that previous reports of Williams syndrome reputedly occurring within the same family as isolated autosomal dominant SVAS were inadequately documented. Based on our family and review of the literature, we suggest that isolated SVAS and Williams syndrome represent clinically distinct entities.