Lowell W. Perry

Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study.

The Baltimore-Washington Infant Study is a population-based case-control study that seeks to identify risk factors for cardiovascular malformations. Between 1981 and 1986, a total of 2102 infants with cardiovascular malformations were ascertained, among whom 271 (12.9%) also had a chromosome abnormality. Among 2328 random control subjects, only two had a chromosome abnormality. Down syndrome with cardiovascular malformations had a maternal age-adjusted regional prevalence of 4.33/10,000 for the white population and 3.70/10,000 for the nonwhite population. Endocardial cushion defect, the predominant cardiac abnormality in Down syndrome (60.1%), rarely occurred as an isolated cardiac lesion (2.8%). The absence of transpositions and the rarity of heterotaxias and of right- and left-sided obstructive lesions in trisomies indicate that there may be a genetic influence on specific embryologic mechanisms. Alimentary tract lesions were more common in Down syndrome than among euploid patients with heart disease and more severe than in control subjects. Urinary tract lesions also occurred in excess of the rate in control subjects. The coexistence of these major malformations with heart disease raises the possibility of incomplete expression of the VA(C)TER (vertebral, anal, cardiac, tracheal, esophageal renal) association. The selective association of chromosome abnormalities with certain cardiovascular defects is now beginning to be explained by reported embryologic studies on cellular characteristics. An explanation of the negative association with transposition and obstructive lesions requires further multidisciplinary studies on genetic and epigenetic factors.

Value of endomyocardial biopsy in infants, children and adolescents with dilated or hypertrophic cardiomyopathy and myocarditis

Endomyocardial biopsy was performed in 20 symptomatic pediatric patients with the following clinical diagnoses: dilated cardiomyopathy in 16, hypertrophic cardiomyopathy in 2 and myocarditis in 2. Transfemoral biopsy was performed without complications in patients aged 2 months to 16 years; 6 were less than 1 year old. An average of five right ventricular specimens were obtained for histologic and ultrastructure study from each patient. In 16 patients with the clinical diagnosis of dilated cardiomyopathy, biopsy findings were compatible with the diagnosis in 8, but changed the diagnosis as follows in the other 8: myocarditis, 4; hypertrophic cardiomyopathy, 2 and carnitine deficiency syndromes, 2. In two patients with the clinical diagnosis of hypertrophic cardiomyopathy, biopsy findings confirmed the diagnosis in one and were normal in the other who had an encapsulated cardiac fibroma at operation. In two patients with the clinical diagnosis of myocarditis, biopsy findings confirmed the diagnosis in one and suggested dilated cardiomyopathy in the other. In the entire series, 25% had biopsy evidence of inflammatory disease. Biopsy findings were confirmed at subsequent autopsy in five cases.

Long-Term Results After Surgical Repair of Incomplete Endocardial Cushion Defects

Since 1964, 56 children (mean age, 6.7 years) underwent repair of incomplete endocardial cushion defects. Forty patients had isolated ostium primum defects. Additional congenital defects were present in 17 patients (30%). All patients underwent patch closure of the ostium primum defect and 47 of 56 patients (84%) underwent mitral valvuloplasty. Hospital mortality was 1.8% (one death). Arrhythmias developed in 7 other patients in the early postoperative period, of which six were transient and resolved completely. One patient required early pacemaker placement for complete heart block. Cumulative follow-up was 378 patient-years. There were three late deaths (5.7%), and additional operations were required in 12 patients (22.6%). Seven of these 12 patients required mitral valve replacement for severe mitral regurgitation. The mean interval between initial repair and mitral valve replacement was 4.2 years, with only three valves needing replacement within 12 months. There was a significant correlation between the severity of mitral regurgitation before initial repair and subsequent need for mitral valve replacement. Late onset atrial arrhythmias have developed in 6 patients. Current functional status has been evaluated in 50 of 52 surviving patients and 88.5% are in NYHA class I, with the remainder in class II.

Repair of anomalous origin of the left coronary artery in the infant and small child

Anomalous origin of the left coronary artery from the pulmonary artery is associated with myocardial infarction, left ventricular dysfunction, mitral valve dysfunction and, occasionally, intracardiac congenital abnormalities. A technique that utilizes a flap of the anterior wall of the pulmonary artery to serve as a neocoronary artery to direct aortic flow from a created aortopulmonary window to the pulmonary artery orifice of the anomalous left coronary artery was used in five patients aged 2.5 months to 4.75 years. Two patients were less than 4 months of age at operation. There was one death 2 days after operation and one late death. The two youngest patients required mitral valve replacement. Two of the three surviving patients are well at follow-up at 7 to 44 months. One patient has been lost to follow-up study. One patient had postoperative catheterization which showed an intact repair. The pulmonary artery neocoronary procedure is applicable to infants and small patients with anomalous origin of the left coronary artery from the pulmonary artery.

Scalar, planar, and spatial measurements of the Frank vectorcardiogram in normal infants and children

Frank-lead vectorcardiograms (VCGs) were obtained from 1222 normal infants and children. By means of the Pipberger computer system, 176 different scaler and vector measurements obtained from each VCG were correlated with height, weight, race, sex, torso length, chest circumference, and chest diameters to determine the effect of anthropometric indices on the VCG wave forms. Because 5509 tests of statistical significance were performed, correlation coefficients and tests of statistical significance are reported only with p less than 0.001. Height, weight, torso length, and chest circumference show good correlation with QT interval, but these findings are reflective of the decrease in heart rate with age. The VCG does not show consistent correlations with constitutional variables when stratified by age, sex, or race. There were six instances of VCG parameters significantly greater in black children, and four instances of VCG parameters significantly greater in white children. All racial differences, while statistically significant, are small by clinical, hand measurement standards. There were 22 VCG values in boys which exceeded those in girls and only one VCG value in girls which exceeded those in boys. In the pediatric age group, racial differences in VCG wave forms are small and clinically insignificant. The Frank-lead system adequately corrects for constitutional variables in infants and children. Adequate evaluation of pediatric VCGs requires stratification of data according to age and sex.

The transmission of systolic murmurs from the pulmonary artery into the left atrium

Abstract Systolic murmurs may be transmitted directly through adjacent walls from the pulmonary artery to the left atrial appendage. Thus, the recording of a systolic murmur in the left atrial appendage suggests its origin in the pulmonary artery. It is hoped that this observation will further the understanding of intracardiac sounds.

Closed Transventricular Valvotomy for Critical Aortic Stenosis in the Neonate

Critical congenital valvar aortic stenosis in the neonate presents a life-threatening clinical picture different from that seen in older age groups. High mortality and morbidity accompanying a variety of surgical procedures have been associated with intervention at this early age.