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The heart is formed by eight weeks into a pregnancy; most congenital heart defects occur during these first weeks of development. For the first time, more adults are living with congenital heart disease than children. Infographic: Congenital Heart Defects Click to view. We now have better procedures and more evidence for sound treatment practice. Topic Contents About congenital heart disease Thriving with congenital heart disease What causes congenital heart disease? What are the signs and symptoms? How is it diagnosed? How are congenital heart defects treated? Infographic: Congenital Heart Defects.

Patient Resource. Your email has been sent. This motivated a revision of the Glenn technique, maintaining the central connection of the two pulmonary arteries bidirectional Glenn. In fact, the contractile function of the distended right atrium ceases at high pressures, which increases the reservoir effect, blood stasis, and atrial arrhythmias.

These deleterious effects can be avoided by directly connecting the inferior vena cava to the pulmonary artery by means of an intra-atrial conduit lateral tunnel or a completely extracardiac conduit. In order to avoid the adverse effects of a sharp rise in venous pressure, partial fenestration of the Fontan technique is used, leaving a transitory residual ASD that allows excess atrial pressure to be relieved in the immediate postoperative period. Expansion of the Fontan technique.

In initial experiences with the Fontan technique, the selection criteria for patients were very strict and are included in the famous decalogue of Choussat et al. The intervention was carried out not only in patients with tricuspid atresia, but also in those with different forms of single ventricle and other complex congenital heart diseases. In the s, this optimism was replaced by a more realistic view. At 5 years of the operation, more than one-third have died or have a worse functional state than before surgery.

In Table 6, the main complications of long-term Fontan circulation are described. The atrial or cavopulmonary connections may become obstructed by stenosis or kinking of the pulmonary arteries, retraction of suture lines, intrinsic degeneration of valvular prostheses, neointimal proliferation of conduits, calcification and the rigidity of prosthetic materials, or intraluminal thrombosis.

The system created by Fontan surgery is very sensitive to stasis phenomena because venous flow is slow, and thromboembolic complications are common Figure 7. The high incidence of thrombosis found in some series suggests that most adult patients should receive permanent anticoagulant treatment if no specific contraindications are present. Obstruction generally takes place in the VSD or bulboventricular foramen Figure 8. The subaortic obstruction can be interpreted as a process of myocardial remodeling that occurs in response to changes in ventricular geometry induced by the reduction of the volumetric overload that transforms eccentric hypertrophy into concentric hypertrophy.

Transesophageal echocardiogram in a patient with a single-ventricle heart corrected with the Fontan technique. The atriopulmonary connection large arrow and a large mural thrombus in the wall of the right atrium small arrows are evident. RA indicates right atrium; LA: left atrium.. Transesophageal echocardiogram in a patient with a single ventricle heart corrected with the Fontan technique. A localized subaortic stenosis can be observed in the bulboventricular foramen wide arrow. Persistent shunts and valvular insufficiency. After Fontan surgery, many patients have persistent shunts.

These shunts can be produced by dehiscence of patches or lines of suture, neoformation of venous collaterals, distal aortopulmonary anastomoses, or the development of pulmonary arteriovenous fistulas. In some patients with an operated single ventricle, AV valve insufficiency can appear. The insufficiency can appear in very late phases of evolution and may have a progressive nature. Atrial arrhythmias and congestive heart failure.

Atrial arrhythmias, especially atrial flutter and tachycardia due to macroreentry, are frequent after the Fontan procedure, associated with sudden death, and potentially refractory to all types of treatment, including drugs, antitachycardia pacing, and radiofrequency ablation. One of the worst long-term consequences of the Fontan operation is protein-losing enteropathy, which produces refractory ascites, generalized edema, and massive pleural effusion. The syndrome is infrequent in the first months or years after the operation, but its incidence increases with time.

The cause of hypoalbuminemia is a chronic loss of proteins by the digestive system induced by the excessive and persistent increase in the venous pressure of the lower cava and portal system, with secondary lymphangiectasia. The inhibitors of angiotensin-converting enzyme can be effective, but it is sometimes necessary to remove the Fontan connection or induce ASD to relieve central venous pressure. Revision of the Fontan operation. In patients with symptomatic atrial arrhythmias or severe protein-losing enteropathy that does not respond to medical treatment, revision of the Fontan intervention in adult life can be necessary.

If stenosis exists in the connections, prosthetic materials, or pulmonary arteries, surgical reconstruction with enlargement of the obstructive areas may be sufficient. Patients with obstruction of the pulmonary veins or refractory atrial arrhythmias can benefit from complete atrial exclusion with an extracardiac Fontan or lateral tunnel. If the cause is myocardial dysfunction, the therapeutic alternatives are scant, but the clinical situation of some patients can be improved by undoing the Fontan modifications.

The large increment in the number of patients with CHD who will reach adulthood in the coming decades demands careful consideration of the new needs for care that are being generated, who will be responsible for providing care, and where it will be carried out. The physiology of many previously repaired or palliated CHDs can be difficult to understand for cardiologists without special training in pediatric cardiology.

On the other hand, most of the medical problems of adults are beyond the training of pediatric cardiologists. The placement of these patients in wards, outpatient clinics, or examination rooms is also complicated. A pediatric setting is unsuitable for the continued care of older adults, but most cardiology departments are unprepared to handle such patients. The traditional barrier between pediatrics and general practice must disappear because teams are needed in which pediatric cardiologists and heart surgeons work hand in hand with cardiologists and heart surgeons specialized in adult patients.

Congenital Heart Disease: Types, Symptoms, Causes, and Treatment

Each ACHDU should be formed by at least one cardiology specialist and an expert in CHDs, generally from pediatric cardiology, but heart surgeons expert in pediatric and adult problems must also participate, as well as anesthetists with training and experience in both fields. Hospitalization and outpatient care are best handled in hospitals for adults, but care by personnel who are experienced in the assessment and treatment of CHDs must be guaranteed.

The ACHDU should also have access to a clinic for high risk pregnancies, a cardiac rehabilitation unit with special knowledge of congenital problems, a psychiatry or support psychology unit for adolescents, and a social services unit with special interest in the social and occupational problems of disabled young people. A fluid relation with the areas of clinical genetics genetic counseling , hematology blood dyscrasias , neurology neurological syndromes , traumatology skeletal malformations , and other specialized areas is important.

The ACHDU must be structured in the setting of a tertiary teaching hospital and must have a close relation with one or more pediatric cardiology departments, which supply the patients and must be considered a natural and complementary extension. For this reason, in Spain it would be necessary to plan for the development of no more than units of this type.

In these units, only patients with complex heart diseases or serious complications should be followed up. The responsibility for most care inevitably lies with clinical cardiologists who have little training in CHDs. It is important that there be direct communication between the extrahospital cardiologist and ACHDU, both for referral of patients and to consult on specific problems.

Each clinical cardiologist should know the referral center. The referral center, with the support of institutions, should develop programs for continuing education to facilitate the work of cardiology specialists who have not had access to specific training.. Experts may come from the pediatric setting pediatric cardiologists or adult setting clinical cardiologists , but in both cases they need additional training. The 23rd Conference of Bethesda has classified this additional training into three levels.

It should be part of the training of all residents in cardiology and pediatric cardiology and extend to all clinical cardiologists in the community. We would like to thank Drs. Marta Mateos for reviewing this manuscript.. Correspondence: Dr. Oliver Ruiz. Hospital Universitario La Paz. E-mail: joliver hulp. Descargar PDF. Table 1. Development of cardiac surgery in congenital heart diseases. Table 2. Therapeutic procedures in congenital heart disease.

Table 4. Classification of the residual lesions, sequelae, an d complications of congenital heart disease. The clinical profile and disease pattern of adults with CHD is changing. The prevalence of certain adult CHDs, such as tetralogy of Fallot, transposition of the great arteries or univentricular heart, is rising, but these conditions have practically become new diseases as a result of therapy.

Most surviving patients present residua, sequelae, or complications, which can progress during adult life. These disorders can present electrophysiological disturbances, valvular disease, persistent shunts, myocardial dysfunction, pulmonary or systemic vascular disease, problems caused by prosthetic materials, infectious complications, thromboembolic events, or extravascular disorders involving multiple organs or systems. In tetralogy of Fallot, the most striking problems that affect long-term prognosis are pulmonary valve regurgitation, right ventricle dysfunction, and atrial or ventricular arrhythmias.

The main problems appearing after physiological atrial repair of transposition of the great arteries are related to right ventricular function, since it is structurally unprepared for systemic circulation, and atrial arrhythmias. Surgical repair of univentricular heart using Fontan techniques should be considered a palliative procedure that does not modify the underlying structural disorder and exposes the postoperative patient to severe complications and problems. The increase in the number of patients with CHD who will reach adulthood in the coming decades makes it necessary to carefully consider the new healthcare demands that are being generated, who should be responsible for them, and how and where solutions can be found..

Congenital heart disease. Palabras clave:. Texto completo. The development of pediatric cardiology: Historical milestones. En: Moss A, editor. Heart disease in infants, children, and adolescents. Baltimore: Williams Wilkins. Baltimore: Williams Wilkins, , pp. Surgical ligation of a patent ductus arteriosus: report of first successful case.. JAMA, , pp. Experience with operations for hyoplastic left heart syndrome..


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J Thorac Cardiovasc Surg, 81 , pp. Congenital coarctation of the aorta and its surgical treatment.. J Thorac Surg, 14 , pp. Surgical treatment of malformations of the heart in which there is pulmonary stenosis or pulmonary atresia.. Pulmonary Valvulotomy for the relief of congenital pulmonary stenosis.. BMJ, i , pp. Intracardiac surgery with the aid of a mechanical pump-oxigenator system Gibbon-type : report of eight cases..


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Cardiovasc Intervent Radiol, 7 , pp. Sequential segmental analysis of congenital heart disease.. Pediatr Cardiol, 5 , pp. Nomenclature and classification of congenital heart disease.. Br Heart J, 41 , pp. Axial Cineangiography in congenital heart disease. I: Concept, technical and anatomic considerations..

Circulation, 56 , pp. II: Specific lesions.. Accuracy of two-dimensional echocardiography in the diagnosis of congenital heart disease.. Am J Cardiol, 55 , pp. Radionuclide angiocardiography in children.. J Am Coll Cardiol, 5 , pp. Cardiac magnetic resonance imaging.

Congenital Heart Disease

En: Moss-Adams, editor. Creation of an atrial septal defect without thoracotomy: a palliative approach to complete transposition of the great arteries.. Transcatheter treatment of congenital heart disease..

Adult Congenital Heart Disease: Eisenmenger Syndrome

Circulation, 67 , pp. Therapeutic cardiac catheterization. Am J Cardiol, 70 , pp. Second natural history study of congenital heart defects. Materials and methods.. Circulation, 87 , pp. I4-I15 Medline. Second natural history study of congenital heart defects: results of treatment of patients with pulmonary valvar stenosis.. II37 Medline. Second natural history study of congenital heart defects: results of treatment of patients with aortic valvar stenosis..

II27 Medline. Second natural history study of congenital heart defects: results of treatment of patients with ventricular septal defects.. II51 Medline. Long-term outcome after surgical repair of isolated atrial septal defect.. N Engl J Med, , pp. Long term outcome in patients undergoing surgical repair of tetralogy of Fallot..

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The Fontan procedure for tricuspid atresia: early and late results of a year experience with patients.. J Am Coll Cardiol, 37 , pp. Cardiovascular health and disease in children: current status.. Circulation, 89 , pp. Care of the adult with congenital heart disease: introduction.. E, et al.. We are on our way, but we need more training programs and we need additional specialized adult CHD centers throughout the country so patients have access to high-quality care.

Registry discussions have been around for about a decade, Daniels said, but they take coordination and funding and a concerted effort by governing bodies to prioritize CHD patients.


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It would be one way to get at the raft of questions the new guidelines point out that are still unanswered in CHD research. For example: How can networks of care be developed to ensure patients get the expert care needed, even with low numbers of specialists and centers?

Heart Disease: Adult Congenital Heart Disease

How can doctors ensure patients are not lost to care as they transition from pediatric to adult cardiology? How can doctors modify current CHD surgical procedures to prevent or reduce later development of heart failure or an irregular heartbeat? If you have questions or comments about this story, please email editor heart. Copyright is owned or held by the American Heart Association, Inc. Permission is granted, at no cost and without need for further request, to link to, quote, excerpt or reprint from these stories in any medium as long as no text is altered and proper attribution is made to the American Heart Association News.