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[The diagnosis of congenital heart defects today. Part 1: Ventricular septal defect, pulmonary stenosis, patent ductus arteriosus, atrial septal defect].

Most congenital heart diseases are detected in childhood, but some, such as atrial septal defect, can remain undiagnosed until adulthood. In the first part of this review, taking the auscultation findings and the clinical picture as a basis, the diagnosis of four common congenital heart diseases is discussed: ventricular septal defect, pulmonary stenosis, patient ductus arteriosus, and atrial septal defect. In addition, the latest developments in the field of therapy are briefly considered.

Ductus Arteriosus, Patent↗

Congenital heart defects and abnormal maternal biomarkers of methionine and homocysteine metabolism.

BACKGROUND: It is well established that folic acid prevents neural tube defects. Although the mechanisms remain unclear, multivitamins containing folic acid may also protect against other birth defects, including congenital heart defects. OBJECTIVE: Our goal was to establish a maternal metabolic risk profile for nonsyndromic congenital heart defects that would enhance current preventive strategies. DESIGN: Using a case-control design, we measured biomarkers of the folate-dependent methionine and homocysteine pathway among a population-based sample of women whose pregnancies were affected by congenital heart defects (224 case subjects) or unaffected by any birth defect (90 control subjects). Plasma concentrations of folic acid, homocysteine, methionine, S-adenosylmethionine (SAM), S-adenosylhomocysteine (SAH), vitamin B-12, and adenosine were compared, with control for lifestyle and sociodemographic variables. RESULTS: After covariate adjustment, case subjects had higher mean concentrations of homocysteine (P < 0.001) and SAH (P < 0.001) and lower mean concentrations of methionine (P = 0.019) and SAM (P = 0.014) than did control subjects. Vitamin B-12, folic acid, and adenosine concentrations did not differ significantly between case and control subjects. Homocysteine, SAH, and methionine were identified as the most important biomarkers predictive of case or control status. CONCLUSIONS: The basis for the observed abnormal metabolic profile among women whose pregnancies were affected by congenital heart defects cannot be defined without further analysis of relevant genetic and environmental factors. Nevertheless, a metabolic profile that is predictive of congenital heart defect risk would help to refine current nutritional intervention strategies to reduce risk and may provide mechanistic clues for further experimental studies.

Adult↗

[Congenital thoracic defects demonstrated by radiophotography].

Costal congenital defects are malformations or anomalies of dimension, location or structure of the ribs, generated by disturbances of prenatal development. These anomalies appear in mesoderm which also gives rise to skeleton, muscles, serums, conjunctive tissues, circulatory system and urogenital apparatus. Of the 59,225 persons examined, 502 had costal congenital defects. The presence of azygos lobe (Wrisberg's lobe) in 158 cases (0.26%), of right aortic (arcs high dextroposition of cross) in 2 cases and (3%000) dextroposition of heart in 6 cases (10%000), out of which a situs inversus (complete cardiovascular transposition) were noticed as congenital defects with common origin in embryonic mesoderm. Medical radiophotography can be used as a method in detecting congenital costal defects. Other defects in other organs can be also detected. The congenital costal defects found in an rf examined population, representing a part of the total of congenital malformations, may be one of their indirect epidemiologic indices. Their existence may lead to the explanation of the symptomatology of the nervous compressive type on brachiocephalic vascular, etc. plexus. As some of the defects are an excess of osseous and cartilaginous matter, they may be used, when indicated, as autografts.

Congenital Abnormalities↗

Pathophysiology of pelvic organ prolapse.

Pelvic organ prolapse is usually caused by weakness of the pelvic diaphragm. Descent of the pelvic diaphragm places stress on the endopelvic connective tissue support system. Subsequent increases in intra-abdominal pressure result in prolapse. In the majority of cases, labor and childbirth are thought to be the primary factors responsible for pelvic neuropathies and tissue damage that predispose to the development of POP. Certain connective tissue defects, congenital defects, and operative procedures also contribute to pelvic support defects.

Connective Tissue Diseases↗

Rational use of rubella vaccine for prevention of congenital rubella syndrome in the Americas.

Rubella is a viral disease with minor morbidity and few complication unless it is contracted by a pregnant woman. Rubella infection during the first trimester of pregnancy often leads to fetal death or severe congenital defects (congenital rubella syndrome, CRS). Rubella remains endemic in many countries of Latin America and the Caribbean. It has been estimated that 20,000 or more infants are perhaps born with CRS each year in Latin American and Caribbean countries. While the inclusion of rubella vaccination into routine childhood immunization will decrease rubella virus circulation among young children, it will not have immediate impact on the transmission of rubella among adults or the occurrence of CRS. A one-time mass campaign targeting both males and females 5 to 39 years of age with measles-mumps-rubella or measles-rubella vaccine followed by the use of measles-mumps-rubella vaccine in routine early childhood vaccination will prevent and control both rubella and CRS promptly. In April 1988, the Ministers of Health of the English-speaking Caribbean targeted rubella for elimination by the end of the year 2000 using the vaccination strategy outlined above. The rubella elimination experience of these countries will provide useful information for the eventual elimination of rubella virus from the Americas.

Adult↗

Congenital cardiovascular disease and cardiac surgery in childhood: Part 1. Cyanotic congenital heart defects.

The management of congenital heart disease is in a state of evolution, with earlier surgical and/or catheter interventions dominating clinical decision-making. Recent advances in interventional cardiac catheterization techniques, as well as continuing advances in the surgical management of complex congenital defects, continue to be the focus of attention of cardiologists and surgeons. The majority of the papers reviewed document mid- and long-term results of specific operative procedures for and address the appropriate role of cardiac catheterization techniques in the management of transposition of the great vessels, tetralogy of Fallot, total anomalous pulmonary venous connection, truncus arteriosus, pulmonary atresia with intact ventricular septum, and the univentricular heart. Early definitive intervention has become the standard of care for almost all defects reviewed.

Adolescent↗

Partnership for the heart. German-Estonian health project for the treatment of congenital heart defects in Estonia.

Congenital heart defects (CHD) occur in 8 per 1000 live births. If they remain untreated, 70-80% of these patients die in early childhood. With modern diagnostic and treatment procedures, 90% of these patients reach adulthood. Within 8 years following reunification of Germany, it was possible to improve treatment for CHD in former East Germany to West German standards. Based on the experience gained in this process, a plan for improvement of care of Estonian patients with CHD was developed and implemented in the German-Estonian project, "Partnership for the Heart". The main elements of the project were (1) the training of Estonian physicians in Germany, (2) training courses conducted by German and Estonian specialists in Estonia and (3) use of telemedicine for consultation on a continuous basis. During the project 15 Estonian patients underwent cardiac surgery and/or catheter interventions performed by a joint team of German and Estonian specialists. The infant mortality due to CHD in Estonia fell by 28% during the project period. Key techniques of cardiac surgery are now being employed in Estonia without outside support, indicating the success of the training program and the long-term improvements to cardiac health care in Estonia. The total project costs were 314,252 Euro (euro), which is 50% lower than the estimated cost of treating the 15 patients abroad in Western Europe. The structure of "Partnership for the Heart" and the modified self-sufficiency model of medical care have not only produced results for Estonia but can be taken as a template for future bilateral health projects with other transition countries and for other fields of medical specialisation, and thus might aid a European health policy.

Adolescent↗

[Current cardiology and congenital heart defects in adults].

Congenital heart defects (CHD) are referred to in coincidence with any anomaly of anatomic structure of the heart and large vessels. The prognosis of CHD has improved dramatically in th recent 50 years. The number of patients with CHD surviving until adulthood is increasing.

Adult↗

Late results of surgery for congenital heart defects.

Surgery for congenital heart defects started 50 years ago with "closed" procedures, and open heart surgery is in its forth decade. Thus, long-term results are now available. Although a majority of patients lead normal lives, problems do exist. Hemodynamic anomalies can be related to residual lesions or to persistent systemic hypertension (after coarctation repair) or pulmonary hypertension (after late repair of left to right shunt lesions). Right or left ventricular dysfunction may be observed, due to longstanding overload, hypoxia or to the open heart procedure itself. Rhythm disturbances have a tendency to increase with the passage of time after surgery. After ventricular surgery (repair of ventricular septal defect and tetralogy of Fallot), conduction defects and ventricular arrhythmias are prevalent. They may lead to late sudden death. After atrial surgery, sinus node dysfunction and atrial arrhythmias are observed. Problems related to growth of the patient exist essentially in cases where foreign material (conduits, prostheses) have been implanted. Many patients, with definitive repair or palliative operation, have become adults. This is a new challenge for the adult cardiologist, and it is a duty of the pediatric cardiologist to hand over his knowledge of this pathology.

Adolescent↗

[Seasonal differences in the occurrence of congenital heart defects].

Incidence of congenital heart defects was studied prospectively in all 664,218 children born in 1977 to 1984. Those suspected of having a heart disease were examined at the center specialized in pediatric cardiology. All children who died were autopsied and those in whom a heart defect was proved were included in our series. In total, 4409 infants (6.64/1000 live births) were born with a heart defect in Bohemia. Differences from one year to another were not statistically significant. The incidence of infants with a heart defect was highest in October, lowest in December, June and July (p less than 0.05). Seasonal incidence of individual forms of heart defects differed as well. The seasonal variation was not influenced by the total number of live births. High incidence of congenital heart defects in infants born in October and November coincides with the epidemics of influenza in early pregnancy.

Czechoslovakia↗

Tension hemothorax following abdominal surgery - a rare presentation of congenital diaphragmatic defect.

BACKGROUND: Small congenital diaphragmatic defects are usually occult, but can present as a problem in patients with increased abdominal fluid as unilateral massive hydrothorax. We present a unique case presentation of a small congenital diaphragmatic defect. CASE REPORT: A 79 female immediately postoperatively developed a hydrothorax following low anterior resection for rectal cancer. The hydrothorax turned out to be due to an intrabdominal bleed in a patient with a previously undiagnosed congenital diaphragmatic hernia. The respiratory ball value mechanism worked as a pump to move blood from the abdomen to the chest and caused a tension hemothorax. RESULTS: Surgeons should be aware that a post operative hydrothorax could be associated with an intrabdominal complication of recent surgery. CONCLUSIONS: A small occult congenital diaphragmatic defect and associated ball value mechanism may provide an unexpected but clinically significant communication between the abdominal and thoracic cavities.

Abdomen↗

Deadly defects. Managing the pediatric patient with a congenital heart defect.

CHD-specific emergencies may be managed quite effectively in the prehospital environment. The key to successful prehospital management of CHDs is identifying the cardiac anomaly, obtaining an effective history and physical assessment, and providing supportive care. When obtaining a history, it is important to remember that parents know their children and their children's diseases very well. An EMS provider who ignores information from a parent is doomed to failure. Realizing that most EMS providers are not well-versed in the various CHDs and are not likely to have a great deal of experience in working with CHD patients, conferring with medical control prior to initiation of any treatments is strongly encouraged. Finally, remember that patients with CHDs are sick and have traditionally been sick for quite a while. Because of the chronic illness, it is easy to focus on the congenital defect when called to the scene for an ill child and neglect the potential for a noncardiac-related pathology. Although the most commonly seen congenital heart defects have been reviewed here, there are others that have not been addressed. Garnering an understanding of each individual defect is not nearly as important as understanding the difference between cyanotic and acyanotic defects. Prehospital care for the CHD patient is primarily supportive, but, in certain cases, may require substantial intervention. EMS providers should not be concerned with diagnosing specific defects, but should be aware of the global effects that various defects have on normal perfusion. EMS providers' comprehension of the pathophysiology of CHDs and prompt actions will play a vital role in the outcome of the acutely ill CHD patient.

Child↗