Congenital heart disease

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Cross-section diagram of a normal human heart.

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Associate Editor-In-Chief: Keri Shafer, M.D. [2]

Please Join in Editing This Page and Apply to be an Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [3] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.

Overview

Congenital heart disease (CHD) is heart disease in the newborn, and includes structural defects, congenital arrythmias, and cardiomyopathies. CHD is a defect of the heart that exists primarily at birth, and can describe a wide variety of different abnormalities affecting the heart. CHD occurs when the heart or blood vessels near the heart does not develop properly before birth. Therefore, the heart does not pump because it is not completely developed. Also the blood flow is obstructed in the heart of the vessels nearby, causing an abnormal flow of blood through the heart. Blood flow obstructions put a strain on the heart muscle causing the heart to work harder and beat faster. Abnormal blood flow usually occurs when there is a hole in the walls of the heart and may be an abnormal connection between two arteries outside the heart.

Causes

Current knowledge about the causes of congenital heart disease is scanty and largely based on small studies(<1,000 patients) . Potential identified factors include environmental factors, such as chemicals, drugs, or infection, and genetic factors. Many genetic conditions and syndromes are associated with congenital heart disease, such as DiGeorge syndrome (22q11 deletion syndrome), Holt-Oram syndrome, and Alagille syndrome. However, the large majority of those born with congenital heart disease do not have genetic syndromes. Existing research suggests that the genetics of congenital heart disease may vary by defect, with reported recurrences rates varying from 0% in transposition of the great arteries to 7.8% in atrioventricular septal defects. Overall total risk has been estimated at approximately 5%, but it is clear that more research is needed to further illuminate causation in congenital heart disease.

Differential Diagnosis of Causes of Congenital Heart Disease

Antenatal Detection and Diagnosis

Before birth, an obstetric ultrasound scan may be used to screen pregnant women for signs of CHD in their unborn babies. This screening scan is often performed around 20 weeks of pregnancy when the fast moving structures of the fetal heart are large enough to be more easily imaged. If CHD is suspected, a mother will be referred for a fetal echocardiograph, which is a more detailed, diagnostic ultrasound scan by a specialist cardiologist. It is increasingly possible for specialists to screen for CHD as early as 14 weeks, if CHD is suspected from other factors, such as a family history.

Postnatal Detection and Diagnosis

After delivery, if congenital heart disease is present but has not been detected, then a newborn baby may appear blue or breathless. Signs of CHD are sometimes mistaken for an infection or illness, so it is important to rule this out. Blueness and/or breathlessness may take some time to present, depending on the type of congenital heart disease and whether there is a duct-dependent lesion (i.e. one relying on an open ductus arteriosis for blood flow). This duct usually closes within the first three days of life in babies born at term (i.e. at nine months gestation).

Detection and Diagnosis in Adulthood

Although the majority of congenital heart disease diagnoses are made in childhood, there are significant congenital heart defects which may be go undetected until adulthood. These typically include defects that do not cause cyanosis ("blueness") in childhood but may cause problems over time, such as certain kinds of valve problems, transposition disorders, holes in the heart, and abnormalities of the heart's major veins and arteries. Congenital heart defects are most commonly diagnosed through an echocardiogram - an ultrasound of the heart which shows the heart's structure. Cardiac magnetic resonance(MRI) are used to confirm CHD when signs or symptoms occur in the physical examination. An echocardiograph displays images of the might also be used to confirm the problem, particularly in complex defects in which anatomy is hard to determine with echocardiography. It also finds abnormal rhythms or defects of the heart present with CHD. A chest x-ray may also be issued to look at the anatomical position of the heart and lungs. A Cat Scan(CT) can also be used to visualize CHD. All of these tests are ways to diagnose CHD by a physician.

ACC / AHA Guidelines-Recommendations for Permanent Pacing in Children, Adolescents, and Patients With Congenital (DO NOT EDIT) [1]

Class I

1. Permanent pacemaker implantation is indicated for advanced second- or third-degree AV block associated with symptomatic bradycardia, ventricular dysfunction, or low cardiac output. (Level of Evidence: C)

2. Permanent pacemaker implantation is indicated for SND with correlation of symptoms during age-inappropriate bradycardia. The definition of bradycardia varies with the patient’s age and expected heart rate. (Level of Evidence: B)

3. Permanent pacemaker implantation is indicated for postoperative advanced second- or third-degree AV block that is not expected to resolve or that persists at least 7 days after cardiac surgery. (Level of Evidence: B)

4. Permanent pacemaker implantation is indicated for congenital third-degree AV block with a wide QRS escape rhythm, complex ventricular ectopy, or ventricular dysfunction. (Level of Evidence: B)

5. Permanent pacemaker implantation is indicated for congenital third-degree AV block in the infant with a ventricular rate less than 55 bpm or with congenital heart disease and a ventricular rate less than 70 bpm. (Level of Evidence: C)

Class IIa

1. Permanent pacemaker implantation is reasonable for patients with congenital heart disease and sinus bradycardia for the prevention of recurrent episodes of intra-atrial reentrant tachycardia; SND may be intrinsic or secondary to antiarrhythmic treatment. (Level of Evidence: C)

2. Permanent pacemaker implantation is reasonable for congenital third-degree AV block beyond the first year of life with an average heart rate less than 50 bpm, abrupt pauses in ventricular rate that are 2 or 3 times the basic cycle length, or associated with symptoms due to chronotropic incompetence. (Level of Evidence: B)

3. Permanent pacemaker implantation is reasonable for sinus bradycardia with complex congenital heart disease with a resting heart rate less than 40 bpm or pauses in ventricular rate longer than 3 seconds. (Level of Evidence: C)

4. Permanent pacemaker implantation is reasonable for patients with congenital heart disease and impaired hemodynamics due to sinus bradycardia or loss of AV synchrony. (Level of Evidence: C)

5. Permanent pacemaker implantation is reasonable for unexplained syncope in the patient with prior congenital heart surgery complicated by transient complete heart block with residual fascicular block after a careful evaluation to exclude other causes of syncope. (Level of Evidence: B)

Class IIb

1. Permanent pacemaker implantation may be considered for transient postoperative third-degree AV block that reverts to sinus rhythm with residual bifascicular block. (Level of Evidence: C)

2. Permanent pacemaker implantation may be considered for congenital third-degree AV block in asymptomatic children or adolescents with an acceptable rate, a narrow QRS complex, and normal ventricular function. (Level of Evidence: B)

3. Permanent pacemaker implantation may be considered for asymptomatic sinus bradycardia after biventricular repair of congenital heart disease with a resting heart rate less than 40 bpm or pauses in ventricular rate longer than 3 seconds. (Level of Evidence: C)

Class III

1. Permanent pacemaker implantation is not indicated for transient postoperative AV block with return of normal AV conduction in the otherwise asymptomatic patient. (Level of Evidence: B)

2. Permanent pacemaker implantation is not indicated for asymptomatic bifascicular block with or without first-degree AV block after surgery for congenital heart disease in the absence of prior transient complete AV block. (Level of Evidence: C)

3. Permanent pacemaker implantation is not indicated for asymptomatic type I second-degree AV block. (Level of Evidence: C)

4. Permanent pacemaker implantation is not indicated for asymptomatic sinus bradycardia with the longest relative risk interval less than 3 seconds and a minimum heart rate more than 40 bpm. (Level of Evidence: C)

Outcomes

It is now estimated that the number of adults in the United States who have congenital heart disease is approaching one million. Because of advances in cardiac surgery, many who would not previously have survived childhood, now lead normal or relatively normal lives. However, some increase in complications has been observed in adults who were previously thought to have had successful repair of heart defects. These complications include cardiac arrhythmia, disorders of heart valves, and heart failure. Regular check-ups by cardiologists are now recommended for patients with histories of congenital heart disease, including those who may have previously been told that their defects were successfully repaired. Since most adult cardiologists have little experience with congenital heart disease, congenital heart disease centers[4] have been developed to care for adult patients with more severe congenital heart disease. It is thought that some patients, especially those with more complex disorders, and women who are pregnant or considering pregnancy, would likely do better if they are followed in specialty centers. Guidelines have been developed regarding which patients may be successfully followed in non-specialized cardiology practices, and which should be seen in adult congenital heart disease centers.

Pathological Findings

Images courtesy of Professor Peter Anderson DVM PhD and published with permission © PEIR, University of Alabama at Birmingham, Department of Pathology

























External links

Sources

  • The ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities [1]

References

1. “The Heart Chest.” Non-profit Organization.

2. “Congenital Heart Disease.” Clinical Reference Systems. McKesson Health Solutions LLC , 2004. pg 783. Health Reference Center-Academic. Accessed: 20 Feb. 2006.

3. Jacob, Dawn A. “Patent Ductus Arteriosus.” Gale Encyclopedia of Medicine. 2001. Health Reference Center-Academic . Accessed: 20 Feb. 2006.

4. Knopper, Melissa, and Teresa G Odle. “Congenital Heart Disease.” Gale Encyclopedia of Medicine. 2004. Health Reference Center-Academic . 20 Feb. 2006.

5. Washington, Reginald L. “Hypoplastic Left Heart Syndrome.” Clinical Reference Systems. McKesson Health Solutions LLC , 2004. p 1724. Health Reference Center-Academic. Accessed: 20 Feb. 2006.

  1. 1.0 1.1 Epstein AE, DiMarco JP, Ellenbogen KA, Estes NAM III, Freedman RA, Gettes LS, Gillinov AM, Gregoratos G, Hammill SC, Hayes DL, Hlatky MA, Newby LK, Page RL, Schoenfeld MH, Silka MJ, Stevenson LW, Sweeney MO. ACC/AHA/HRS 2008 guidelines for device-based therapy of cardiac rhythm abnormalities: executive summary: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices). Circulation. 2008; 117: 2820–2840. PMID 18483207


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