History Of Congenital Heart Defects Research Articles

P292: Early diagnosis of congenital heart defects (CHD) in high-risk patients

To establish the validity of fetal echocardiography between 12 and 16 weeks gestation for early reassurance of normal anatomy and for the diagnosis of CHD in high-risk pregnant women. Transvaginal and transabdominal echocardiography was performed in 341 high-risk fetuses: increased nuchal translucency (n = 148), extracardiac anomalies (58), chromosomal abnormalities (5), family history of CHD (46), pregestational diabetes (41), teratogen exposure (4) and genetic sonography (38). Examinations were considered complete when were identified: four-chamber, outflow tracts, venous return and transvalvular Doppler. The results were compared with those observed in later scans, in the autopsy and/or in the neonatal examination. This is a prospective study. The rate of complete visualization was 94% (321/341). The overall rate of CHD rose to 26% (n = 63). In 54 (86%) the diagnosis was made in early gestation. All were major anomalies. Nine CHD were missed at early examination (4 ventricular septal defects, 3 complete atriventricular defects, 2 tetralogy of Fallot). Normality was confirmed in the remaining. There were no false positive. In 37 cases (10%) the follow-up was incomplete. Early fetal echocardiography is feasible in most cases and should be offered to high-risk pregnant women allowing the diagnosis of most major CHD. It must be complemented with later scans because of false negative cases, mainly septal defects.

The risk for congenital heart defects in offspring of individuals with congenital heart defects.

Congenital heart defects (CHDs) occur in approximately 1% of all live births. Although most CHDs are of unknown etiology, a family history of CHDs is a known risk factor, and offspring of individuals with CHDs are at a higher risk of having CHDs. The aim of this study was to investigate the relative risk for CHDs to offspring of individuals with CHDs. The prevalence rates of CHDs in offspring of 203 individuals with CHDs and 282 individuals without CHDs were investigated. The study participants completed a questionnaire that included information on medical and reproductive history, lifestyle indicators, and family history of CHDs and other congenital malformations. The prevalence rates of CHDs in offspring were calculated. The prevalence of CHDs was 3.1% (18/575) in offspring of individuals with CHDs and 1.3% (8/589) in offspring of individuals without CHDs. The adjusted odds ratio for CHDs to offspring of parents with CHDs was 1.73 (95% confidence interval [95% CI] 0.89-2.44, p=0.02). The estimated relative risk for offspring to females with CHD was higher than for males [2.3 (95% CI 1.1-4.7, p=0.03) versus 1.31 (95% CI 0.48-4.30, p=0.66), respectively]. There was no suggestion of association between CHDs and maternal smoking, alcohol consumption, and use of medication during pregnancy. Offspring of parents with CHDs are at a higher risk for CHDs compared with the general population. Couples where one member is affected with CHD should receive pre-conceptional or pre-natal genetic counseling and should be informed about the magnitude of the potential risk of CHDs to the offspring.

Isolated right ventricular outflow tract mass presenting as hemoptysis

Infective endocarditis presenting as an isolated right ventricular outflow tract mass is rare. We report a 34-year-old man with no history of congenital heart defect or intravenous drug abuse who presented with hemoptysis and fevers. Diagnostic workup revealed isolated right ventricular outflow tract vegetation. Despite aggressive antibiotic treatment for endocarditis, he developed septic emboli and acute respiratory distress. He was taken to the operating room for successful resection of the ventricular mass.

Aortic dissection and turner’s syndrome: case report and review of the literature

Cardiovascular abnormalities are frequently encountered in patients with Turner’s syndrome. These include coarctation of the aorta, aortic root dilatation, bicuspid aortic valve, atrial and ventricular septal defects. Aortic dissection is a rare but devastating complication of Turner’s syndrome that usually occurs in adulthood. We report a case of Turner’s syndrome with coarctation of the aorta and chronic aortic dissection, and review the relevant literature. There have been 21 prior reported cases of aortic dissection in patients with Turner’s syndrome. Possible etiologic factors contributing to the occurrence of aortic dissection in this syndrome are protean. They include the presence of cystic medial necrosis, coarctation of the aorta, bicuspid aortic valve, aortic root dilatation, and hypertension, although cases of aortic dissection and Turner’s syndrome have been described in patients without any risk factors. As our knowledge of the natural history of congenital heart defects and risk factors for aortic dissection in Turner’s syndrome is limited, periodic cardiac evaluation of these patients may be warranted. Early recognition and treatment of this potentially lethal complication of Turner’s syndrome is essential.

Pregnancy and its outcome in women with and without surgical treatment of congenital heart disease

In the state of Connecticut, 233 women with congenital heart defects were prospectively followed up through 482 pregnancies that resulted in 372 infants who were examined frequently during their first 3 years of life. Approximately half of the women had undergone cardiac surgery and they were compared with the women without operation. There was no maternal mortality, and no patient had infective endocarditis, brain abscess or a cerebrovascular accident. The proportion of pregnancies resulting in live births did not differ significantly in mothers with and without cardiac surgery; the average live birth rate was 77 percent in all. However, the number and size of live-born infants was much greater in mothers who had become acyanotic as a result of reparative surgery than in the still cyanotic women, whether or not they had had palliative surgery. In cyanotic women, placental size was abnormally large in relation to birth weight, which was abnormally low. When the mothers were classified according to cardiac function, there was a significant difference between the number of infants born alive to mothers in good to excellent status and the number born to mothers in fair to poor condition. The latter had a significant increase in interrupted pregnancies as well as in cardiovascular complications during pregnancy. The total group had a 16.1 percent incidence rate of infants with congenital heart disease. This rate was corrected to 14.2 percent by removal of seven mothers, two with Noonan's syndrome, one with hypertrophic cardiomyopathy and four with a family history of congenital heart defects.

Determinants of growth in patients with ventricular septal defect.

Growth status was studied in 1210 patients with ventricular septal defects (VSD) participating in the Joint Study on the Natural History of Congenital Heart Defects. A total of 793 patients were managed medically and 194 underwent successful surgical repair. Admission measurements revealed height and weight status to be subnormal and related to physiological severity and age. Successful repair resulted in significant increase in weight but not height. Medical therapy was associated with little change in the subnormal growth pattern. Multivariate analysis revealed determinants of admission height for all patients with VSD to be presence of extracardiac anomalies, birthweight below 2.5 kg, admission age greater than 2 years, history of heart failure and pulmonary/systemic pressure ratio. The same determinants were noted for admission weight with addition of pulmonary/systemic flow ratio. It is conluded that the severe growth disturbance in patients with VSD is only in part due to abnormal postnatal hemodynamics. Intrauterine and genetic factors and low birthweight also play a role and help explain the incomplete growth response after successful surgery.

Congenital valvular aortic stenosis: Clinical detection of small pressure gradient: Prepared for the joint study on the natural history of congenital heart defects

Clinical variables (from the history, physical examination, electrocardiogram and chest radiograph) were related to the pressure gradient measured between the left ventricle and the aorta in 434 young patients with congenital valvular aortic stenosis admitted to a national collaborative study. The aim was to devise a composite clinical criterion for the recognition of patients with a small pressure gradient, so as to expand the opportunity for avoiding cardiac catheterization in such patients. Flattened or inverted T waves in lead V 6 were found to be inconsistent with mild disease. Therefore, a composite criterion, providing an estimate of pressure gradient, was developed for patients without T wave changes. The final criterion, based on multivariate analysis, involved only the intensity of the systolic murmur, the presence or absence of an early diastolic murmur, and voltages of the Q and R waves in lead V 6. Patients with a low estimate by this procedure rarely had a large measured gradient. Only 3.7 percent (6 of 161) with an estimated gradient of less than 45 mm Hg had a gradient at cardiac catheterization of 80 or more mm Hg; none (0 of 32) with an estimated gradient of less than 30 mm Hg had a gradient of 50 or more mm Hg. This criterion should be helpful in avoiding unnecessary catheterization by identifying some patients with valvular aortic stenosis who have a small pressure gradient.