Adult Congenital Heart Disease (ACHD)
Congenital cardiac abnormalities are heart “defects” that are present from birth. They occur in 1.2 to 17 per 1000 live births, depending upon the ethnicity . The cause of disease is often unknown although there are some factors that can contribute to the manifestation of congenital diseases such as viral infections (like rubella), trisomy 21 (Down’s syndrome), maternal illness or drug and alcohol abuse during pregnancy.
The majority of heart defects in the neonatal, infant or childhood population are detected; however, this is not true for all cases. Sometimes heart defects can be so small that they are not identified early and gradually progress to cause symptoms during adulthood. In other cases of adult cardiac congenital disease, early surgery may not have been possible. Despite the fact that the incidence of congenital heart disease remains largely unchanged, advances in medical science, including improved prenatal diagnosis, advanced imaging techniques, expanded surgical expertise and better access to care, have led to a generation of relatively young adults with newly diagnosed congenital heart defects. Sixty years ago, roughly only 20% of children with congenital heart disease survived into adulthood. The number is now estimated at 80-90% and there are now more adults than children living with congenital heart disease.
The prevalence of adults living with congenital heart disease is unknown but estimated to be between 362 and 4090 adults per million, depending on the geographical region. Half are women, most of which are of childbearing age and who can be at significant risk of complications if they become pregnant without specialist assessment and frequent monitoring.
Adults with congenital heart disease usually have symptoms of breathlessness and poor exercise tolerance. A diagnosis of congenital heart disease is based on clinical examination and several diagnostic tests.
The treatment for patients with congenital heart disease depends upon the severity of the disease. Some mild heart defects require no treatment, just annual check-ups, while others may require medication, percutaneous interventional techniques or surgery. If possible, adults with congenital heart disease should be monitored in specialized facilities and must take precautions to prevent an infection of their heart (endocarditis) throughout their lives.
The most common adult congenital cardiac abnormalities are:
- Iatrogenic: after surgical repair of a congenital heart disease at an earlier stage, usually in the childhood (pulmonary valve insufficiency after repair of tetralogy of Fallot, pulmonary artery stenosis, residual ventricular septal defects, and others)
- Abnormalities of valve structures such as bicuspid aortic valve, valve prolapse, pulmonary valve stenosis, Ebstein Anomaly involving the tricuspid valve and others.
- Atrial septal defect
- Ventricular septal defect
- Patent ductus arteriosus (PDA)
- Abnormal pulmonary veins
- Abnormalities of coronary arteries
- Coarctation of the aorta
- Pulmonary artery stenosis
- Tetralogy of Fallot (TOF)
- Transfer of the great arteries (TGA)
- Pulmonary Hypertension
Surgical treatment of adult congenital heart disease
The surgical treatment of congenital heart disease involves repair techniques which use tissue from the patient’s own body (pericardium) or advanced synthetic materials such as Gore-Tex. It is preferable to repair the affected valve and to replace it only when necessary using prosthetic valves (mechanical or biological).
In young patients with aortic root problems we can perform the “Ross Technique”. This technique involves surgical implantation of the pulmonary root in the aortic root of the patient (Ross procedure). The missing pulmonary root is then replaced by the pulmonary root from a donor body (another human, homograft) or an artificial graft (with a bioprosthetic valve in it). After a “Ross procedure” there is no need for anticoagulation therapy (Coumadin). There is also a possibility of greater resistance to infections compared to other surgical procedures and the new root can be increased in size as the child or teen grows. The graft used in the place of the pulmonary root may need future replacement, but this is a relatively simple surgical procedure compared to an aortic root re-operation.
Percutaneous techniques to deal with adult congenital heart disease
For some patients with congenital heart disease, their heart defect can be treated without surgery using percutaneous techniques. Specially trained interventional cardiologists can place intra-cardiac ‘devices’ in the heart by inserting them through a tube in the artery or vein of the patient’s leg. Depending upon the underlying problem, the devices can close defects (holes) in the heart, enabling narrowed valves to be opened up and in some cases allow prosthetic valves to be implanted. In cases of certain atrial septal defects (secondary or secundum) and when there are no other co-existent heart defects, percutaneous closure may be the preferred method of treatment.
Adult Congenital Heart Disease (ACHD)
There is currently a large population of adults with congenital heart disease. This is partly due to their extended life expectancy following successful childhood cardiac surgery. These adolescents and adults face unique challenges. A common problem includes arrhythmias and sudden cardiac death. In particular, patients who have survived previous congenital heart surgery have a 25 to 100 times greater risk of sudden cardiac death than a typical adult of the same age. Therefore, the continuous follow-up and monitoring of children, adolescent and adult patients with congenital heart disease is essential and should always be offered.
These patients present a unique challenge for the cardiology and cardiac surgical community. With more than 30 different forms of congenital heart diseases, many of which present complex anatomy and physiology challenges, referral to a specialist centre is necessary. Within this environment, a co-ordinated team approach should be provided. This should include an initial assessment, explanation of treatment options, innovative surgical and interventional therapies as well as on-going counselling and surveillance.
Links:These, like any other published guidelines & evidence, do not and should not override the individual responsibility of healthcare professionals to make appropriate decisions in the circumstances of the individual patients, in consultation with that patient, and where appropriate and necessary the patient’s guardian or carer.
- The challenge of congenital heart disease worldwide: epidemiologic and demographic facts. Bernier PL, Stefanescu A, Samoukovic G, Tchervenkov CI. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2010;13(1):26-34.
- Task force 1: the changing profile of congenital heart disease in adult life. Warnes CA, Liberthson R, Danielson GK, Dore A, Harris L, Hoffman JI, Somerville J, Williams RG, Webb GD. J Am Coll Cardiol. 2001 Apr;37(5):1170-5.
- Congenital heart disease in the general population: changing prevalence and age distribution. Marelli AJ, Mackie AS, Ionescu-Ittu R, Rahme E, Pilote L. Circulation. 2007 Jan 16;115(2):163-72.
- Pulmonary valve implantation with the new Shelhigh Injectable Stented Pulmonic Valve. Marianeschi SM, Santoro F, Ribera E, Catena E, Vignati G, Ghiselli S, Pedretti S, Suleyman O, Ustunsoy H, Berdat PA. Ann Thorac Surg. 2008 Nov;86(5):1466-71; discussion 1472.
- Implantation of a catheter-based self-expanding pulmonary valve in congenital heart surgery: results of a pilot study. von Wattenwyl R, Arnold R, Siepe M, Beyersdorf F, Schlensak C. Eur J Cardiothorac Surg. 2011 Sep;40(3):552-6.
- Stent fracture, valve dysfunction, and right ventricular outflow tract reintervention after transcatheter pulmonary valve implantation: patient-related and procedural risk factors in the US Melody Valve Trial. McElhinney DB, Cheatham JP, Jones TK, Lock JE, Vincent JA, Zahn EM, Hellenbrand WE. Circ Cardiovasc Interv. 2011 Dec 1;4(6):602-14.
- Burden of coronary artery disease in adults with congenital heart disease and its relation to congenital and traditional heart risk factors. Giannakoulas G, Dimopoulos K, Engel R, Goktekin O, Kucukdurmaz Z, Vatankulu MA, Bedard E, Diller GP, Papaphylactou M, Francis DP, Di Mario C, Gatzoulis MA. Am J Cardiol. 2009 May 15;103(10):1445-50.