Management strategy for very mild aortic valve stenosis.

It is unclear how often patients with very mild aortic stenosis (gradients < 25 mmHg) need interval follow-up. The purpose of this study was to define the determinants of disease severity progression and to propose appropriate management strategies. It is known that congenital aortic stenosis is a progressive disease that requires long-term follow-up at consistent intervals. We studied 89 patients with very mild aortic stenosis. Cox proportional hazard modeling was performed to ascertain predictors of morbidity and mortality. Events were defined as valve surgery or death. Of the original 89 patients, 7 died (92% survival); one death was sudden and unexplained and six were noncardiac. Eighteen individuals were lost to follow-up (10 not located and 8 refused participation). Twelve (17%) had valve surgery. The minimum time interval between initial diagnosis of very mild aortic stenosis and surgery was 4.6 years (mean, 14.0). Age at diagnosis, gender, initial gradient, initial gradient/age, and aortic regurgitation were found not to be predictive of outcome. However, the slope of the transaortic gradient [change of gradient/time (years)] was predictive of outcome (hazard ratio of 1.69; confidence interval, 1.4-2.2). At least 17% of these patients progress to require operation. For patients with a gradient slope < 1.1, evaluation every 4 or 5 years is recommended. For patients with a gradient slope > 1.2, evaluation every 1 or 2 years seems prudent.

Neurodevelopmental outcome of infants with hypoplastic left heart syndrome.

The neurodevelopmental outcome of hypoplastic left heart syndrome in infants remains unclear. All 11 survivors of staged surgical repair of hypoplastic left heart syndrome received standardized neurodevelopmental assessments at one regional children's hospital. Seven children (64%) had major developmental disabilities. Quality-of-life outcomes must be considered when management options for children with hypoplastic left heart syndrome are evaluated.

Atrial septal aneurysm in a patient with autosomal dominant polycystic kidney disease.

We describe a 6-year-old patient with autosomal dominant polycystic kidney disease, normal renal function, hypertension, and serial echocardiograms showing an aneurysm of the atrial septum. Intracardiac aneurysms have not previously been reported in patients with autosomal dominant polycystic kidney disease.

Cardiorespiratory responses to exercise of patients with aortic stenosis, pulmonary stenosis, and ventricular septal defect.

BACKGROUND: The purpose of this study was to determine exercise tolerance and cardiac response to exercise for a large cohort of adult subjects with aortic stenosis, pulmonary stenosis, or ventricular septal defect participating in the Second Natural History Study of Congenital Heart Defects (NHS-2). METHODS AND RESULTS: Exercise testing was performed on 134 of 235 NHS-2 full participants with aortic stenosis, 195 of 331 NHS-2 full participants with pulmonary stenosis, and 324 of 594 NHS-2 full participants with ventricular septal defect. A Bruce treadmill exercise protocol was used. Mean exercise duration for patients with aortic stenosis, pulmonary stenosis, and ventricular septal defect was 86.5%, 94.2%, and 90.8% of predicted, respectively. For patients with aortic stenosis, there was a direct relation between echocardiographic Doppler maximum transaortic gradient and ST segment change during exercise. ST segment change during exercise was very uncommon for patients with pulmonary stenosis. For patients with ventricular septal defect, there was an association between arrhythmias noted during exercise and the presence of associated aortic insufficiency. CONCLUSIONS: Although exercise duration was well preserved for patients with each of the three defects, exercise tolerance was subnormal.

Occurrence risk for congenital heart defects in relatives of patients with aortic stenosis, pulmonary stenosis, or ventricular septal defect.

BACKGROUND: Knowledge of the risk of occurrence of congenital heart defects in offspring of individuals with a congenital heart defect is important for genetic counseling and understanding the etiology of congenital heart diseases. METHODS AND RESULTS: A portion of the questionnaire mailed to all patients in the Second Natural History Study of Congenital Heart Defects (NHS-2) addressed marital status, pregnancy, miscarriage, and presence or absence of congenital heart defects or other congenital malformations in first-degree relatives. Offspring were not examined as a part of the study. For male probands with aortic stenosis (AS), three of 251 offspring had congenital heart disease, whereas one of 72 offspring of female probands with AS had congenital heart disease. For patients with pulmonary stenosis (PS), three of 176 offspring of male probands had congenital heart disease, whereas eight of 205 offspring of female probands had congenital heart disease. For male probands with ventricular septal defect (VSD), 10 of 334 offspring had congenital heart defects, and 11 of 384 offspring of female probands with VSD had offspring with congenital heart defects. The prevalence rate for noncardiac congenital anomalies in offspring of probands was 2%. CONCLUSIONS: Based on known congenital heart defects in offspring of probands in the NHS-2, occurrence rates of congenital heart disease in children of subjects with AS, PS, and VSD were 1.2% (confidence interval [CI], 0.34-3.1%), 2.8% (CI, 1.4-5.1%), and 2.9% (CI, 1.8-4.4%), respectively.

Bacterial endocarditis in patients with aortic stenosis, pulmonary stenosis, or ventricular septal defect.

BACKGROUND: All of the 2,401 patients with aortic stenosis (AS), pulmonary stenosis (PS), or ventricular septal defect (VSD) admitted to the First Natural History Study of Congenital Heart Defects between 1958 and 1965 were eligible for the Second Natural History Study. Most patients with severe defects were managed surgically, and most with mild defects were managed medically. Final examination in the first study was carried out 8 years after admission. METHODS AND RESULTS: For AS, the incidence rate of bacterial endocarditis (BE) was 27.1 per 10,000 person-years. The incidence rate was 15.7 per 10,000 person-years for those managed medically and 40.9 per 10,000 person-years for those managed surgically. Most patients managed surgically had severe AS, and severity was more important to the risk of BE than the method of management. For PS, only one of the 592 patients with PS experienced BE. For VSD, the incidence rate of BE was 14.5 per 10,000 person-years. Size of the VSD was not associated with risk of BE. The risk of BE before closure of the VSD was more than twice that after surgery. CONCLUSIONS: The incidence rate of BE was nearly 35-fold the population-based rate. The increased incidence in patients with AS after valvotomy was a function of severity of the defect and not a function of surgery. Presence of aortic regurgitation in patients with AS did not increase the risk of developing BE. Surgical closure of VSD lowered the risk of BE.

Second natural history study of congenital heart defects. Results of treatment of patients with aortic valvar stenosis.

BACKGROUND: From 1958 to 1969, 462 patients (mostly children) with aortic stenosis were admitted to the First Natural History Study of Congenital Heart Defects (NHS-1) after cardiac catheterization. Most with gradients < 50 mm Hg were managed medically; most with gradients > or = 80 mm Hg had aortic valvotomy. Of those with gradients of 50-79 mm Hg, some were managed medically, and some were managed surgically. Most had a second cardiac catheterization at the conclusion of NHS-1. More than 15 years have elapsed since NHS-1, and most of the cohort are adults. This report (the Second Natural History Study [NHS-2]) addresses the long-term results of medical and surgical management. METHODS AND RESULTS: Of the original cohort of 462 patients, 440 were alive at completion of NHS-1. New data were obtained on 371 (80.3%) of the original cohort. Probability of 25-year survival was 92.4% for those admitted with gradients < 50 mm Hg and 81.0% for those with admission gradients > or = 50 mm Hg. More than half of the cardiac deaths were sudden and unexpected. Forty percent of patients managed medically during NHS-1 subsequently required surgical management. Almost 40% of operated patients required a second operation. Three percent of the original cohort subsequently had bacterial endocarditis. There was a higher-than-normal prevalence of serious arrhythmias. Of NHS-2 full participants, 92.3% were in New York Heart Association functional class I. Most patients had low Doppler mean gradients. Clinically, 46.6% had aortic valve regurgitation. The final clinical status was excellent in 29.9%, good in 22.8%, fair in 28.6%, and poor in 18.7%. CONCLUSIONS: Patients with gradients < 25 mm Hg can be followed medically; however, progressive stenosis can occur, and approximately 20% will require intervention. If the gradient is > or = 50 mm Hg, there is a risk of serious arrhythmias and, possibly, sudden death. If the gradient is > or = 80 mm Hg, intervention is clearly indicated; as techniques improve, delaying intervention in patients with gradients of 50-79 mm Hg may not be advantageous. Patients with gradients of 25-49 mm Hg can be followed medically with annual evaluation.

Second natural history study of congenital heart defects. Results of treatment of patients with pulmonary valvar stenosis.

BACKGROUND: From 1958 to 1969, 592 patients (mostly children) with pulmonary stenosis were admitted to the First Natural History Study of Congenital Heart Defects (NHS-1) after cardiac catheterization. Most with gradients < 50 mm Hg were managed medically; most with gradients > or = 80 mm Hg had pulmonary valvotomy. Among these with gradients of 50-79 mm Hg, some were managed medically, and some were managed surgically. Most had a second cardiac catheterization at conclusion of NHS-1. More than 15 years had elapsed since NHS-1, and most of the cohort are adults. This report (Second Natural History Study) addresses the long-term results of medical and surgical management. METHODS AND RESULTS: Of the original cohort of 592 patients, 580 were alive at completion of NHS-1. New data were obtained on 464 (78.4%) of the original cohort. Probability of 25-year survival was 95.7%. Probability of survival was less (80%) in a subgroup of patients entering NHS-1 > 12 years old with cardiomegaly. Less than 20% of patients managed medically during NHS-1 subsequently required a valvotomy. Only 4% of operated patients required a second operation. Bacterial endocarditis occurred rarely. Ninety-seven percent were in New York Heart Association class I. There was a small but higher-than-normal prevalence of serious arrhythmias. Most patients, whether medically or surgically managed, had low Doppler maximum gradients. Final clinical status was excellent or good in 83%. CONCLUSIONS: Probability of survival is similar to that of the general population, and the vast majority of patients are asymptomatic. If valvotomy or valvuloplasty is required in a child, reoperation is rarely necessary. Patients with gradients < 25 mm Hg do not experience an increase in gradient. Patients with a gradient > or = 50 mm Hg should have valvotomy or valvuloplasty. Choice of management of patients with gradients of 40-49 mm Hg remains debatable.

Second natural history study of congenital heart defects. Results of treatment of patients with ventricular septal defects.

BACKGROUND: From 1958 to 1969, 1,280 patients (mostly children) with ventricular septal defects (VSDs) were admitted to the First Natural History Study of Congenital Heart Defects (NHS-1) after cardiac catheterization. Most with small defects and Eisenmenger's syndrome were managed medically; most with large VSDs were managed surgically. Of those with moderate-size defects, some were managed medically, and some were managed surgically. Most had a second catheterization at the conclusion of NHS-1. More than 15 years have elapsed since NHS-1, and most of the cohort are adults. This report (Second Natural History Study) addresses the long-term results of medical and surgical management. METHODS AND RESULTS: Of an original cohort of 1,280 patients, 1,099 were alive at completion of NHS-1. New data were obtained on 976 (76.3%) of the original cohort. Probability of 25-year survival was 87%, and admission severity was the best predictor of survival. Of the 860 patients managed medically during NHS-1, 245 subsequently required surgical closure of the VSD. Only 5.5% of patients who had surgical closure required a second operation. On follow-up, there was a higher-than-normal prevalence of serious arrhythmias. Bacterial endocarditis occurred rarely. Of patients with small VSDs, 94.1% were in New York Heart Association functional class I. With the exception of those with Eisenmenger's syndrome, most patients had a final clinical status that was excellent or good. CONCLUSIONS: The majority of patients fared well. However, there was a higher-than-normal prevalence of serious arrhythmia and sudden death, including those with small VSDs.

Second natural history study of congenital heart defects. Materials and methods.

Results of the location and recruitment efforts and comparisons of responses from patients who cooperated at different levels in the Second Natural History Study of Congenital Heart Defects are included because they influenced the choice of analytic methods and are essential to the generalizability of the results to the entire study cohort. Included are examination and data collection protocols (e.g., protocol definitions, test procedures, and data editing), statistical methods (e.g., box plots, survival curves, multivariable models, and rate adjustment), participation results (e.g., proportional odds analysis, mortality, location, recruitment, and full participants, including comparison of questionnaire responses and comparison of questionnaire response and physician history), and a discussion.

Second natural history study of congenital heart defects. Quality of life of patients with aortic stenosis, pulmonary stenosis, or ventricular septal defect.

BACKGROUND: Quality of life of patients with congenital heart defects is an important aspect of the assessment of outcome of medical and surgical treatment. METHODS AND RESULTS: All participants in the Second Natural History Study of Congenital Heart Defects who completed the study questionnaire were included in this analysis. The questionnaire completed by the patients included inquiries relative to medical history, marital and family life, self-perception of well-being, insurability, and employability. The following general observations were apparent. The study cohort reported a self-perception of health status that was similar to that of the general population. Second, 35-40% of patients had not had a cardiac evaluation within the previous 10 years. Third, 16% of the patients had no health insurance, and 35.7% of the patients had no life insurance. For the patients with pulmonary stenosis and ventricular septal defect, the percent who were married was less than that of the corresponding national age- and sex-specific population. For patients with aortic stenosis, the percent married was greater than that of the general population for some age groups. The proportion of divorced or separated individuals was similar to that of the general population. For all three defects, the level of educational attainment exceeded the national average. Last, unemployment rates were similar to national averages except for women with aortic stenosis, who had a significantly higher unemployment rate than did age- and sex-matched controls. CONCLUSIONS: Patients initially identified with aortic stenosis, pulmonary stenosis, or ventricular septal defect in 1959-1973 have a quality of life in the mid-1980s similar to that of the general US population.

Second natural history study of congenital heart defects. Aortic stenosis: echocardiography.

BACKGROUND: Recent advances in the field of echocardiography have made it possible to obtain a complete morphological and hemodynamic assessment of patients with aortic stenosis. Therefore, comprehensive two-dimensional and Doppler examinations were performed on patients with aortic stenosis returning for the Second Natural History Study of Congenital Heart Defects (NHS-2). METHODS AND RESULTS: Two hundred thirty-two patients with aortic stenosis underwent comprehensive two-dimensional and Doppler examinations. Of these, 96 were in the medically treated group, 49 had undergone aortic valve replacement, and 87 had had aortic valvotomy. The valve replacement group had a significantly smaller left ventricular diastolic cavity than did the medically treated group; both had smaller dimensions than the valvotomy group. There was no significant difference in left ventricular wall thickness or fractional shortening among the three groups. The valvotomy group had a significantly higher mean aortic valve gradient than did either the medically treated group or the valve replacement group. The degree of aortic regurgitation was more severe in the valvotomy group than in the other two groups. For all patients, there was a direct relation between the aortic valve gradient and the mean wall thickness and an inverse relation between the aortic valve mean gradient and fractional shortening. The only echocardiographic parameter that correlated with the presence or absence of symptomatology was the fractional shortening. CONCLUSIONS: These observations provide an objective measurement for assessing the status of the aortic valve and left ventricular response in patients with aortic stenosis returning for NHS-2. Limitations of echocardiography in this study are discussed.

Second natural history study of congenital heart defects. Pulmonary stenosis: echocardiography.

BACKGROUND: Two-dimensional and Doppler echocardiography can provide information about valve morphology, right ventricular size and function, and hemodynamics in patients with pulmonary stenosis. Therefore, two-dimensional and Doppler echocardiographic examinations were performed on patients with pulmonary stenosis returning for the Second Natural History Study of Congenital Heart Defects. METHODS AND RESULTS: Three hundred twenty-five patients with pulmonary stenosis underwent two-dimensional and Doppler echocardiographic examinations. Of these, 115 were in the medically treated group, and 210 had undergone a previous operation. Patients in the valvotomy group had a higher incidence of right ventricular dysfunction and a larger right ventricular diastolic dimension. The valvotomy group had a lower pulmonary valve mean gradient and a lower right ventricular systolic pressure than the medically treated group. For all patients, there was no significant correlation of the echocardiographic variables with the presence or absence of symptoms, reflecting the low incidence of patients with cardiac decompensation. CONCLUSIONS: These observations provide an objective measurement for assessing the status of the pulmonary valve and right ventricular response in patients with pulmonary stenosis. Limitations of echocardiography in this study are discussed.

Second natural history study of congenital heart defects. Ventricular septal defect: echocardiography.

BACKGROUND: Two-dimensional and Doppler echocardiography can provide structural and hemodynamic information for patients with ventricular septal defects (VSDs). Therefore, two-dimensional and Doppler echocardiographic examinations were performed on patients with VSDs returning for the Second Natural History Study of Congenital Heart Defects. METHODS AND RESULTS: Five hundred fifty-six patients with VSDs underwent two-dimensional and Doppler echocardiographic examinations. Three hundred twenty-four patients were in the medically treated group, and 232 had undergone a previous operation. The location of the VSD was classified in 235 patients. Several Doppler measurements were used to calculate pulmonary artery pressures: tricuspid regurgitation peak systolic velocity, peak systolic velocity of VSD jet, pulmonary regurgitation end-diastolic velocity, and pulmonary artery acceleration time. The two methods that were found to be reliable consisted of the tricuspid regurgitation peak systolic velocity and the pulmonary regurgitation end-diastolic velocity. These measurements were obtained in only 26% of patients at all centers. At one center in which adult and pediatric echocardiography was performed in a single laboratory, these values were obtained in 60% of patients. CONCLUSIONS: Two-dimensional and Doppler echocardiography has the ability to provide a noninvasive method of assessing morphology and hemodynamics in patients with VSDs. However, the reliability and accuracy of hemodynamic measurements are dependent on operator experience.

Arrhythmias in patients with valvar aortic stenosis, valvar pulmonary stenosis, and ventricular septal defect. Results of 24-hour ECG monitoring.

BACKGROUND: Arrhythmias are a significant source of morbidity and mortality in patients with congenital heart defects. METHODS AND RESULTS: As part of the Second Natural History Study of Congenital Heart Defects (NHS-2), 24-hour ambulatory ECG monitoring was performed for full participants in the study. At least 15.5 hours of monitoring was required for inclusion in the analysis. This was achieved for 755 (90.6%) of the patients. Multiform premature ventricular contractions, ventricular couplets, and ventricular tachycardia were considered "serious arrhythmias." For patients with aortic stenosis, the presence of "serious arrhythmias" was associated with higher left ventricular end-diastolic pressure, presence of aortic regurgitation, male sex, and presence of prior aortic valve replacement. For patients with pulmonary stenosis, only older age on admission to NHS-1 was significantly associated with "serious arrhythmias." For patients with ventricular septal defect, the variables associated with "serious arrhythmias" were different for medically and surgically managed patients. For medically managed patients, higher mean pulmonary artery pressure on admission to NHS-1 and older age on admission to NHS-2 were associated with the presence of serious arrhythmias. For surgically managed patients, higher New York Heart Association functional class and cardiomegaly were associated with serious arrhythmias. CONCLUSIONS: The prevalence of arrhythmias (especially ventricular arrhythmias) was higher for patients with aortic stenosis, pulmonary stenosis, or ventricular septal defect than for an historical control population. "Serious arrhythmias" were most frequently noted in patients with aortic stenosis who also had a higher incidence of sudden death. The prevalence of "serious arrhythmias" was second highest for patients with ventricular septal defect who had the second highest incidence of sudden death.

Estimation of the ratio of pulmonary to systemic pressures by pulsed-wave Doppler echocardiography for assessment of pulmonary arterial pressures.

This study describes a method for estimation of the ratio of pulmonary to systemic pressures by pulsed-wave Doppler echocardiography. Sixty-eight patients ages 1 day to 68 years who underwent cardiac catheterization had Doppler studies of the right and left ventricular outflows. Preejection period (PEP), ejection time (ET) and mean acceleration to peak velocity (ACCm) were measured on each waveform. The expression: F = (PEP x ACCm)/ET was calculated for right and left ventricular outflows as an index of the effects that the interaction between ventricular contraction and afterload has on the shape of the Doppler waveforms generated in each outflow. The quotient of (F for the right outflow)/(F for the left outflow), or waveform contour ratio, was used to express the degree of pressure-dependent variability between each subject's right and left ventricular outflow tracings. The waveform contour ratio was strikingly similar to the ratio of systolic pulmonary to systemic pressures and also closely correlated to the ratio of mean pressures. The product of waveform contour ratio and arm systolic pressure gave a consistently accurate estimate of systolic pulmonary pressures. It is concluded that the present method can be used successfully for the noninvasive assessment of pulmonary arterial pressures.

Two-dimensional echocardiography in complete transposition of the great arteries.

Sixty three patients with complete transposition of the great arteries (d-TGA) were studied by two dimensional echocardiography in order to assess: great artery relationships; ventriculo-arterial connections; presence and nature of the left ventricular outflow obstruction (LVOTO). From the parasternal short axis view at the great arteries level, four different relationships were imaged: the aorta was anterior and to the right in 35 patients, the two vessels were in a direct anterior-posterior position in 15 or side by side in 3 and the aorta was anterior and to the left in 10. Differently from normals, early pulmonary bifurcation of the artery arising from the left ventricle was imaged in 42 patients (84%) from the apical approach and in 36 (72%) from the subcostal longitudinal view. Left ventricular outflow tract obstruction was diagnosed in 29 patients (46%) and two distinct types of obstruction were differentiated: fixed and dynamic. We conclude that information derived from two-dimensional echocardiography is a valuable tool for the medical management, cardiac catheterization and surgical treatment of infants and children with d-TGA.

Two-dimensional echocardiographic examination of mitral valve abnormalities associated with coarctation of the aorta.

Coarctation of the aorta is frequently associated with left ventricular inflow tract abnormalities that may be difficult to detect even at cardiac catheterization. This study involved patients with coarctation who underwent comprehensive two-dimensional echocardiographic investigations emphasizing visualization of the mitral valve and its apparatus. Of the 56 patients studied, 23 had completely normal study results, while in 33 (59%) results showed abnormalities of the mitral complex. The latter were divided into two groups: those having major mitral abnormalities (n = 12) and those with minor anomalies of the valve and apparatus (n = 21). The first group included patients with a supravalve stenosing ring, congenital mitral stenosis, mitral valve prolapse, and parachute mitral valve. Minor anomalies were classified as abnormalities of the papillary muscles, chordae tendineae, or combinations of both. No mitral malformations were found in a control group of patients. We conclude that two-dimensional echocardiography is a sensitive and accurate noninvasive method for assessing either significant or subtle forms of left ventricular inflow disease in patients with aortic coarctation. Its use is recommended for the acute medical and surgical management of these patients as well as for their long-term follow-up evaluation.

Aortoplasty and aortic valve replacement for annuloaortic ectasia in an infant with Marfan's syndrome, forme fruste.

This report describes our experience with a 4-month-old infant with annuloaortic ectasia in whom intractable heart failure developed because of acute exacerbation of aortic regurgitation. He underwent an aortoplasty with aortic valve replacement and made an uneventful recovery. Since there has been no report of a successful repair of this condition in infancy, the case is presented and relevant problems are discussed.

Mycotic aortic aneurysms in children.

Mycotic aneurysms of the aorta are uncommon in babies and children. Prior to the development of antibiotics, most mycotic aneurysms were seen secondary to bacterial endocarditis, but this is now uncommon. Instead, more cases have been reported as complications of umbilical artery catheters in newborns. We have seen five cases of mycotic aneurysms in children, two of them secondary to umbilical artery catheters. One patient had coarctation of the aorta, and the other patients had different sources of infection. Three patients were treated surgically by us with good results after antibiotic therapy. One patient died of sepsis before the aneurysm was diagnosed. The fifth patient was treated elsewhere and now has a recurrent aneurysm. We think a combination of aggressive medical and early surgical therapy may save a high percentage of these patients.