Charlotte Ferencz

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.

Failure to diagnose congenital heart disease in infancy.

Objective. To identify factors that predict failure to diagnose congenital heart disease in newborns. Design. All fatal cases in the Baltimore-Washington Infant Study were compiled. The Baltimore-Washington Infant Study includes 4390 cases of infants with congenital cardiovascular malformations identified in a population-based study between 1981 and 1989 in the Baltimore-Washington metropolitan area. Death occurred in 800 such infants in the first year of life. In 76 of these infants, death occurred before diagnosis of heart disease. These cases were identified by community search of autopsy records. Their characteristics are compared with those of infants who died after a cardiac diagnosis was made. Results. Infant characteristics (birth weight, gestational age, intrauterine growth retardation, and chromosomal anomaly) are associated with death of infants with congenital cardiovascular malformations and with death of such infants before diagnosis. Diagnoses of coarctation of the aorta, Ebsteins anomaly, atrial septal defect, and truncus arteriosus are overrepresented in infants found by community search, particularly in those infants without associated malformations. Paternal education is associated with failure to diagnose congenital heart disease in life but other sociodemographic characteristics of the infants family are not. Conclusions. Diagnosis of congenital cardiovascular malformations requires close observation in the neonatal period. Analysis of age at death of infants with undiagnosed congenital cardiovascular malformation suggests that such infants may be at risk if discharged within the first 2 days of life.

Coarctation of the aorta complicated by patency of the ductus arteriosus; physiologic considerations in the classification of coarctation of the aorta.

The study of the anatomic and hemodynamic relationships in a case of coarctation of the aorta complicated by patency of the ductus arteriosus and pulmonary hypertension indicated the necessity for a physiologic approach to the classification of coarctation of the aorta. The origin of existing classifications has been briefly traced and basic anatomic and physiologic considerations in this malformation have been reviewed. A classification is presented which takes into account the state of the ductus arteriosus, its relationship to the coarcted segment and the influence of the collateral circulation. The microscopic appearance of the pulmonary vessels is included.

The Effect of Cortisone Therapy on the Incidence of Rheumatic Heart Disease

THE purpose of this report is to attempt to assess the effect of cortisone in rheumatic heart disease by consideration of a group of 100 patients treated with cortisone and, for purposes of compari...