Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis.
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Aortic Valve Stenosis↗
Biomedical subjects
R H Feldt
Publications and source records attributed to R H Feldt.
Five- to fifteen-year follow-up after Fontan operation.
BACKGROUND: The purpose of this study was to estimate survival and quality of outcome and assess factors associated with outcome for patients out 5 to 15 years from their Fontan operation. METHODS AND RESULTS: We studied 352 patients who had the Fontan operation prior to 1985. The overall 1-, 5-, and 10-year survival was 77%, 70%, and 60%, respectively. The following factors were significantly associated with lower survival: univentricular heart or complex congenital anomalies other than tricuspid atresia, early calendar year of operation, heterotaxia syndromes, early age at operation, increased pulmonary artery pressure, atrioventricular valve dysfunction, and higher (worse) New York Heart Association class. Reoperations were necessary for 103 of the 352 patients. At least 20% of the survivors have or have had cardiac arrhythmias requiring antiarrhythmic medication or mechanical pacemaker insertion. Between 7% and 10% of the patients have had or had protein-losing enteropathy/hypoproteinemia. At 5 years postoperatively, 122 patients (34.7%) were alive with a better New York Heart Association functional classification than preoperatively. Fifty-eight patients (16.5%) were alive and in the same functional classification, but 126 (35.8%) died within the first 5 years or were in a worse functional classification. Thirty-nine patients were doing excellently and 29 patients poorly 5 years after the operation. Of the surviving patients, 43% can do as much exercise as their peers, whereas 3% are incapable of exercise. CONCLUSIONS: To assure good functional long-term outcome in addition to survival, clinicians must exclude from selection for Fontan operation patients known to be at high risk for death or poor outcome.
Adolescent↗
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.
Abnormalities, Multiple↗
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.
Adult↗
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.
Adolescent↗
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.
Adolescent↗
How to evaluate murmurs in children.
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Child↗
Glenn shunt: effect on pleural drainage after modified Fontan operation.
After the Fontan operation, patients who had a prior Glenn anastomosis should have less pleural drainage than patients without a prior Glenn anastomosis because innominate and pleural vein and thoracic duct pressures are unaltered in the former group. To test this hypothesis, we studied 92 patients who had had a Fontan operation between 1973 and 1986--46 with a prior Glenn anastomosis and 46 without a prior Glenn anastomosis (controls)--who were matched for age, gender, diagnosis, and number of prior shunt operations. The volume of pleural drainage was significantly less (p less than 0.05) in the patients with a prior Glenn anastomosis (median 1,959 ml or 48.2 ml/kg) than in the control patients (median, 3,220 ml or 83.4 ml/kg). Similar results were obtained among the patients matched for prior right thoracotomy (n = 28; 1,270 ml and 2,942 ml; p = 0.028). There was no significant difference between the two groups with respect to ventricular end-diastolic pressure, mean right atrial pressure, mean pulmonary artery pressure, duration of total or differential (right side versus left side) effusion, duration of hospital stay, or hospital or late death.
Adolescent↗
The modified Fontan operation for asplenia and polysplenia syndromes.
From 1975 through 1986, 49 patients with asplenia (23 patients) or polysplenia (26 patients) syndromes underwent a modified Fontan operation. All patients had anomalous systemic venous return, and 43 (88%) had anomalous pulmonary venous return. The atrioventricular valve anatomy varied: 36 patients had a common atrial chamber and common atrioventricular valve, eight had mitral valve atresia, and five had severe mitral valve hypoplasia. Redirection of systemic venous return was accomplished by (1) atrial baffle (29 patients), (2) intraatrial conduit (19 patients), and (3) extraatrial conduit (one patient). There were 21 (43%) hospital deaths overall. However, since 1985, six of 22 patients (27%) have died. Increased mortality was seen in patients requiring atrioventricular valve repair or replacement (8/11, 73%) and in patients with asplenia (65%). Lower mortality was seen in patients with polysplenia (24%) and those receiving an intraatrial conduit (26%), although this decrease also represents the more recent experience. We conclude: (1) The Fontan operation for patients with asplenia or polysplenia syndromes has resulted in a significant (although recently declining) mortality; (2) mortality is higher in patients with asplenia; (3) patients with atrioventricular valve insufficiency requiring repair or replacement are at higher risk; and (4) intraatrial conduits seem to offer promise for successfully accomplishing this repair.
Abnormalities, Multiple↗
Cardiorespiratory response to exercise after definitive repair of univentricular atrioventricular connection.
To characterize the exercise hemodynamic responses after definitive operation for patients with univentricular atrioventricular connection, we compared the cardiorespiratory response to exercise of 4 patients who had undergone the ventricular septation procedure and 9 patients who had undergone the Fontan operation with that of 38 patients who had univentricular atrioventricular connection but had not undergone definitive operation. Exercise duration and total work increased significantly after the Fontan procedure but not after the septation operation. Rest or exercise (or both) ventilation improved significantly after the septation operation but less so after the Fontan operation. Blood oxygen saturation (rest and exercise) improved significantly after either procedure. Cardiac output and stroke-volume response to exercise remained abnormal in both groups of patients after operation. Although definitive operation for univentricular atrioventricular connection results in improved cardiorespiratory function at rest and exercise, these variables remain abnormal when compared with those of normal subjects.
Adolescent↗
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.
Echocardiography↗
Prognostic factors and surgical treatment of partial atrioventricular canal.
In this study we sought to determine the prognostic factors that influence early and late survival after repair of partial atrioventricular canal and the need for reoperation. From January 1962 to January 1984, 199 patients underwent correction of partial atrioventricular canal. There were 73 male and 126 female patients, ranging in age from 5 months to 71 years (mean 11.2 years). Total 30 day operative mortality was 5.5%. Since 1980, the mortality has declined to 3%. Significant determinants of operative mortality were congestive heart failure, cyanosis, failure to thrive, age less than 4 years, and moderate-to-severe mitral valve insufficiency (p less than .01). Sex, cardiomegaly, radiographically increased pulmonary vasculature, intraoperative postrepair right ventricular-to-left ventricular pressure ratio, and pulmonary-to-systemic flow ratio were not significant in determining early mortality. Follow-up ranged from 1 to 21.4 years (mean 15.2). There were seven late deaths, primarily in older patients from atherosclerotic disease or malignancy. Late survival was 98% at 1 year and 96% at 20 years. Reoperation was performed on 18 patients, 15 for mitral incompetence, and three for subaortic stenosis. The need for reoperation correlated with severity of postrepair mitral insufficiency. Longterm survival is excellent after repair of the partial form of atrioventricular canal.
Aged↗
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.
Adolescent↗
Transtelephonic monitoring in pediatric patients with clinically suspected arrhythmias.
Evaluation of patients with symptoms suggestive of cardiac arrhythmias is difficult using standard studies if the episodes are infrequent and have a short duration. Transtelephonic electrocardiographic recorders were provided for 41 patients with suspected arrhythmic episodes. None had previously documented arrhythmia. There were 18 males and 23 females (age range 14 months to 19 years; mean 10.9 years). The interval prior to a diagnostic transmission was 0.5 to 8 months (mean 2.5 months). Twenty-one of 41 patients (51%) provided transmissions during a typical episode, nine of which were abnormal. Paroxysmal supraventricular tachycardia was found in eight patients and unsuspected intermittent complete heart block in one patient. The remaining 12 patients had normal sinus rhythm. Twenty patients did not transmit because episodes either were too brief or did not recur. Transtelephonic monitoring was effective in the diagnosis of certain arrhythmias that are infrequent and short in duration. Normal transmitted electrocardiograms during a typical symptomatic episode excluded cardiac arrhythmias.
Adolescent↗
Complete atrioventricular canal associated with tetralogy of Fallot. Morphologic and surgical considerations.
Between 1962 and 1979, 14 patients with complete atrioventricular canal and tetralogy of Fallot underwent repair of both anomalies. The ages of the patients ranged from 1 to 12 years. Six patients had Down's syndrome. Five of the 14 had one or more previous systemic-pulmonary artery shunts. The correct diagnosis was established preoperatively in 11 of the patients. The ventricular septal defect, with its large anterior subaortic extension, was repaired by a combined atrial and right ventricular approach in five patients and by an atrial approach alone in nine. Outflow tract reconstruction (transannular patch) was performed in seven patients, without affecting the surgical mortality. Mortality was higher with associated Down's syndrome, but not significantly so (p = 0.1), and was related to age less than 4 years (p = 0.04). The presence of complete atrioventricular canal should be considered in patients with tetralogy of Fallot, especially those having Down's syndrome, electrocardiographic superior-axis deviation, and vectorcardiographic counterclockwise frontal QRS loop. This diagnosis can be confirmed preoperatively by right and left ventricular angiocardiography and two-dimensional echocardiography. The overall risk of repair has been high (29% early, 14% late mortality), but the mortality has been reduced to 17% during the last 10 years. No deaths have occurred in five recent patients who underwent closure of the ventricular septal defect by a combined atrial and ventricular approach.
Abnormalities, Multiple↗
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.
Angiography↗
Complete atrioventricular block in patients with atrioventricular discordance.
Although patients with atrioventricular (AV) discordance (corrected transposition) have abnormal conduction pathways and may spontaneously develop high-grade AV block, no quantitative assessment of the risk of this happening is available. We reviewed the data on 107 patients with AV discordance ages 2-76 years (mean 22 years) at follow-up. Eighty-two patients (77%) had a ventricular septal defect, 57 (53%) had pulmonary stenosis, 35 (34%) had tricuspid insufficiency and 24 (23%) had dextrocardia. Twenty-three patients (22%) had complete AV block. This condition was present in four patients at birth and developed in 19 patients at ages 4 months to 53 years (mean 18.1 years). Nine of these patients had permanent pacemaker implantation, four at the onset of complete block and five an average of 11 years later. Nine patients have AV block but no pacemaker. One patient died suddenly. Detailed data analysis showed that with increasing follow-up the risk of natural onset AV block continued at a rate of approximately 2% per year after diagnosis. The presence of an intact ventricular septum made AV block more likely. We conclude that patients with AV discordance are at risk of developing complete AV block throughout their lives. With increasing age, this risk is approximately constant and is probably not significantly increased by corrective or palliative surgery if acute surgical AV block does not occur. Pacemaker implantation is not necessary in some children with spontaneous AV block.
Actuarial Analysis↗
Surgical pathology of obstructed, right-sided, porcine-valved extracardiac conduits.
Thirty-seven specimens were available from 39 children and adolescents with congenital heart disease who have had operations at the Mayo Clinic (Rochester, Minn) to replace obstructed Hancock conduits that had been implanted 17 to 93 months (mean, 62 months). Stenosis affected the porcine valve alone in 17 (46%), the synthetic graft alone in 11 (30%), both the valve and the graft in six (16%), and other sites in three (8%). Valvular stenosis resulted from degenerative changes with secondary thrombosis and calcification, whereas insufficiency resulted from cuspid tears, thrombotic adhesions, and endocarditis. Nonvalvular obstruction resulted from progressive thickening of fenestrated neointimae, owing to organization of thrombotic debris lining the interface between the conduit and this tissue. Late postoperative conduit stenosis may develop asymptomatically and unpredictably by several different mechanisms.
Adolescent↗