Congenital cardiac anomalies are the most common birth defects in humans, affecting approximately 0.7 in 100 live births. While
the incidence of congenital heart disease is expected to decline
as a consequence of improved prenatal diagnosis, the number of patients
surviving with congenital heart disease, both in the United States
and worldwide, has increased significantly over the past three decades.
Over 85% of infants born with cardiovascular anomalies
now can expect to reach adulthood. Reduced mortality rates can be attributed
to improved diagnostic abilities, enhanced surgical and nonsurgical
therapies, and improvements in intensive care. For the first time,
the number of adults with congenital heart disease exceeds the number
of children with the disorder.
The increase in the number of adults with congenital heart disease requires that the physician managing the care of these patients
have improved knowledge of simple and complex anatomy and physiology.
Although actual numbers are difficult to ascertain, it has been
estimated that approximately 1 million adults in the United States
alone currently have congenital heart disease and that the number
of patients reaching adulthood with treated congenital heart disease
will increase by approximately 9000 per year.
These patients fall into several broad categories: those surviving into adulthood without intervention, those surviving with curative
surgical or nonsurgical intervention, and those surviving with palliative surgical
or nonsurgical intervention. Nonsurgical interventions may include
catheter-based valvuloplasty, stenting, coiling, or device occlusion.
The patients who are today making the transition into the adult
congenital heart disease population have hemodynamic and cardiac
problems differing from those in previous eras. Surgical techniques
have evolved, intervention occurs earlier and is often definitive
rather than palliative, and a greater number of patients with complex single-ventricle
physiology and various modifications of cavopulmonary anastomoses
(Glenn shunt, Fontan procedure) will reach adulthood.
Although many patients are referred by pediatric cardiologists, others may seek medical attention for the first time in adulthood. Examples of cardiac pathology that may not be readily apparent in childhood include secundum atrial septal defects (ASD), coarctation of the aorta, Ebstein anomaly of the tricuspid valve, congenitally corrected transposition (ventricular inversion), and coronary artery anomalies.
The risk of infective endocarditis remains an issue of ongoing concern in many patients with congenital cardiac defects. The absolute
magnitude of risk varies considerably from one lesion to another
and is also dependent on whether the patient has been surgically
treated. In 2007, the American Heart Association revised its guidelines
regarding infective endocarditis prophylaxis. The revised guidelines suggest
a much more conservative approach to the use of prophylactic antibiotics.
Broadly speaking, infective endocarditis prophylaxis is now recommended
in only three groups of patients with congenital heart disease:
(1) those with unrepaired cyanotic congenital heart disease, including patients
with palliative shunts and conduits, (2) those with a defect completely
repaired (either surgically or by catheter-based intervention) using
prosthetic material or device, during the first 6 months after the
procedure, and (3) those with repaired congenital heart disease
who have residual defects at the site of adjacent to the site of
a prosthetic patch or device. The risk of endocarditis in individual
lesions is summarized in Table 28–1.
Table 28–1. Congenital Heart Disease in
| Save Table
Table 28–1. Congenital Heart Disease in
|Defect||M:F||Associated Defects||Risk of Endocarditis|
|Valvar PS||1:1||VSD (see TOF), Noonan syndrome||Low (mild PS), intermediate (severe PS)|
|ASD secundum||1:2||Mitral valve prolapse||Low|
|ASD primum||1:1||Bridging AV valve leaflets, trisomy 21||Intermediate (with MR)|
|AV septal defect|
|VSD||1:1||PS (see TOF), AR||Intermediate-high (unoperated or with AR)|
|Low (operated without AR)|
|PDA||1:2–3||Coexists with many complex syndromes||Low (ligated), intermediate (patent)|
|Coarctation||2:1||Bicuspid AV||Low (operated1), intermediate (without treatment)|
|C-TGA||M > F||VSD, infundibular PS||Low (isolated C-TGA)|
|Ebstein anomaly||1:1||ASD ||Low-intermediate|
|Coronary AV fistulae||1:1|| ||Intermediate|
|Eisenmenger syndrome||M < F||VSD, ASD, PDA||Low|
|Tricuspid atresia||1:12 ||Pulmonary atresia, ASD, VSD||?|
|Pulmonary atresia with intact septum||1:1|| ||?|
|D-TGA||2–4:1||ASD, PFO, PDA, VSD, PS, RAA||Intermediate|
|Fontan|| || ||Variable|
|Glenn|| || ||Variable|
|Blalock-Taussig|| || ||High|
|RV-PA conduit|| || ||High|
Hoffman JI et al. Prevalence of congenital heart
disease. Am Heart J. 2004 Mar;147(3):425–39.
Perloff JK et al. Challenges posed by adults with repaired congenital heart disease. Circulation. 2001 May 29;103(21):2637–43.
Thirty-second Bethesda Conference: Care of the adult with congenital
heart disease. J Am Coll Cardiol. 2001 Apr;37(5):1166.
Wilson W et al; American Heart Association Rheumatic Fever, Endocarditis, and Kawasaki Disease Committee; American Heart Association Council on Cardiovascular Disease in the Young; American Heart Association Council on Clinical Cardiology; American Heart Association Council on Cardiovascular Surgery and Anesthesia; Quality of Care and Outcomes Research Interdisciplinary Working Group. Prevention of infective endocarditis: guidelines from the American Heart Association: a guideline from the American Heart Association Rheumatic Fever, Endocarditis, and Kawasaki Disease Committee, Council on Cardiovascular Disease in the Young, and the Council on Clinical Cardiology, Council on Cardiovascular Surgery
and Anesthesia, and the Quality of Care and Outcomes Research Interdisciplinary Working
Group. Circulation. 2007 Oct 9;116(15):1736–54.
Wren C et al. Survival with congenital heart disease and need
for follow up in adult life. Heart. 2001 Apr;85(4):438–43.
The most common acyanotic congenital ...