Selective angiocardiography in congenital heart disease

Angiocardiography has come to be a highly specialized procedure and there are definite indications for doing it. In specific cases it offers clear-cut advantages. Technical improvements permit a single injection of a small amount of contrast substance. Selective angiocardiography is advised where the particular detail of a certain region in the heart is desired.     

Clues in diagnosing congenital heart disease.

A number of practical office and bedside clues to cardiac disease in infants and children have been passed on through the years. They relate to the history, to the inspection and palpation components of the physical examination, and to knowledge of the specific cardiac defects that are likely to be associated with certain clinical syndromes. With the possible exception of coarctation of the aorta, the clues are not diagnostically specific. In many instances, however, they serve to narrow a broad array of diagnostic possibilities to 2 or 3 and, with the aid of other clues and auscultation, they can often be distinguished from one another. When a primary care physician is confronted with a child who has an incidental murmur that is "probably" innocent but could be organic, useful clues favoring an organic murmur are a history of congenital heart disease in a first-degree relative; a history of maternal rubella syndrome, alcohol use, or teratogenic drug use during pregnancy; a history of inappropriate sweating; a history of syncope, chest pain, or squatting; maternal diabetes mellitus; premature birth; birth at a high altitude; cyanosis; abnormal pulsations; recurrent bronchiolitis or pneumonia; chronic unexplained hoarseness; asymmetric facies with crying; and a physical appearance suggestive of a clinical syndrome.     

DNA methylation abnormalities in congenital heart disease

Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type of tissue was detected. Pathway analysis revealed a significant enrichment of differential methylation at genes related to muscle contraction and cardiomyopathies in the developing heart DNA. We have also searched for abnormal methylation profiles on developing heart-tissue DNA of syndromic and non-syndromic congenital heart defects. On average, 3 regions with aberrant methylation were detected per sample and 18 regions were found differentially methylated between groups. Several epimutations were detected in candidate genes involved in growth regulation, apoptosis and folate pathway. A likely pathogenic hypermethylation of several intragenic sites at the MSX1 gene, involved in outflow tract morphogenesis, was found in a fetus with isolated heart malformation. In addition, hypermethylation of the GATA4 gene was present in fetuses with Down syndrome with or without congenital heart defects, as well as in fetuses with isolated heart malformations. Expression deregulation of the abnormally methylated genes was detected. Our data indicate that epigenetic alterations of relevant genes are present in developing heart DNA in fetuses with both isolated and syndromic heart malformations. These epimutations likely contribute to the pathogenesis of the malformation by cis-acting effects on gene expression.     

Gender differences in adult congenital heart disease

Objective. To assess gender differences in morbidity, mortality and patient management among adults born with a heart defect. Methods and results. The database of the European Heart Survey on adult congenital heart disease was explored. This contains data on 4110 patients with one of eight congenital heart defects followed retrospectively for a median of 5.1 years. The existence of gender differences was assessed by considering mortality and a few ‘overall’ measures of morbidity. Adjusting for type of defect and age, it was found that cumulative mortality was greater in the male population (hazard ratio 1.63 (95% CI 1.12 to 2.38); p=0.011)). A significantly greater proportion of females had functional limitations (NYHA functional class >1; 37% vs. 29% of men; p=0.003). However, males were more likely to be on chronic medication during follow-up (59% vs. 55% of women; p=0.001), and males underwent diagnostic procedures more frequently (1.58/patient-year vs. 1.48/patient-year for women; p<0.02). There was no significant difference in the proportions of patients who underwent at least one intervention during follow-up, and rates of outpatient (re-)visits were not different between the sexes. Conclusion. This exploratory assessment of a large international database found evidence that gender differences exist in morbidity and mortality among adult patients with congenital heart disease, as well as in medical management. Future studies in adult congenital heart disease should always take into account the effects of gender. (Neth Heart J 2009; 17:414–7.)     

Prenatal screening for congenital heart disease.

Routine ultrasound examination of the fetus is already established in most obstetric units in Britain. A simple method was devised to evaluate one section of the fetal heart systematically. Examination of this section, the four chamber view, may readily be incorporated into routine obstetric screening. Severe cardiac abnormalities detectable in this view occur in two per 1000 pregnancies. For six years the department of paediatric cardiology at Guy''s Hospital, London, served as a referral centre for fetal echocardiography. As teaching became more widespread an increasing proportion of cases of cardiac anomaly were referred because the obstetrician suspected abnormality on examination of the four chamber view. Currently 80% of detected abnormalities are referred for this reason. Further extension and organisation of teaching might result in most severe cardiac malformations being detected in early prenatal life.