Congenital heart defect

Congenital heart defect
Subvalvular Ventricular Septal Defect: Gross, good view of defect with overriding aorta. Image courtesy of Professor Peter Anderson DVM PhD and published with permission © PEIR, University of Alabama at Birmingham, Department of Pathology

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

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

Epidemiology

( Affecting approximately one in every 125 babies born, congenital heart defects are the most common birth defect (March of Dimes)[3]. Forty thousand people are born each year with a CHD; 4,000 will not survive their first year(The Children's Heart Foundation). Twice as many children die each year from a CHD than all forms of Pediatric Cancers combined (The Children's Heart Foundation). The eight most common defects account for 80% of all congenital heart diseases, while the remaining 20% consist of many independently infrequent conditions or combinations of several defects. Ventricular septal defect (VSD) is generally considered to be the most common type of malformation, accounting for about 1/3 of all congenital heart defects.

The incidence is higher when a parent or a sibling has a heart defect (4–5%), in stillborns (3–4%), abortuses (10–25%), and premature infants (2%).

The number of adults with problems connected to a congenital heart defect is rising, passing the number of children with congenital heart defects in most Western countries. This group is referred to as grown-up congenital heart disease (GUCH) patients.

Twice as many children die from a CHD than from all forms of pediatric cancers combined.

Major categories

Patent ductus arteriosus

Main article: Patent ductus arteriosus

The ductus arteriosus is a temporary pathway in the foetal heart between the pulmonary artery and aorta, which allows blood to bypass the fetus's nonfunctioning lungs until birth. Normally, the ductus closes within a few hours or days of birth; when it does not, the result is patent ductus arteriosus. This defect is common in premature infants but rare in full-term infants.

Hypoplasia

Main article: Hypoplastic left heart syndrome

Hypoplasia can affect the heart, which typically results in the failure of either the right ventricle or the left ventricle to develop adequately, leaving only one side of the heart capable of pumping blood to the body and lungs. Hypoplasia of the heart is rare but is the most serious form of CHD; it is called hypoplastic left heart syndrome when it affects the left side of the heart and hypoplastic right heart syndrome when it affects the right side of the heart. In both conditions, the presence of a patent ductus arteriosus (and, when hypoplasia affects the right side of the heart, a patent foramen ovale) is vital to the infant's ability to survive until emergency heart surgery can be performed, since without these pathways blood cannot circulate to the body (or lungs, depending on which side of the heart is defective). Hypoplasia of the heart is generally a cyanotic heart defect.

Obstruction defects

Obstruction defects occur when heart valves, arteries, or veins are abnormally narrow or blocked. Common obstruction defects include pulmonary valve stenosis, aortic valve stenosis, and coarctation of the aorta, with other types such as bicuspid aortic valve stenosis and subaortic stenosis being comparatively rare. Any narrowing or blockage can cause heart enlargement or hypertension.

Septal defects

The septum is a wall of tissue which separates the left heart from the right heart. It is comparatively common for defects to exist in the interatrial septum or the interventricular septum, allowing blood to flow from the left side of the heart to the right, reducing the heart's efficiency. Ventricular septal defects are collectively the most common type of CHD, although approximately 30% of adults have a type of atrial septal defect called patent foramen ovale. Septal defects may or may not cause cyanosis depending on the severity of the defect.

Cyanotic defects

Cyanotic heart defects are called such because they result in cyanosis, a bluish-grey discoloration of the skin due to a lack of oxygen in the body. Such defects include persistent truncus arteriosus, total anomalous pulmonary venous connection, tetralogy of Fallot, transposition of the great vessels, and tricuspid atresia.

Other defects

• Ebstein's anomaly
• Brugada syndrome
• Marfan syndrome
• DiGeorge Syndrome

Signs and Symptoms

Symptoms and signs are related to the type and severity of the heart defect. Some children have no signs while others may exhibit shortness of breath, cyanosis, chest pain, syncope, sweating, heart murmur, respiratory infections, underdeveloping of limbs and muscles, poor feeding, or poor growth. Most defects cause a whispering sound, or murmur, as blood moves through the heart causing some of these symptoms. All of these symptoms occur at a young age of a child or infant and are typically found during a physical examination.

Treatment

Sometimes CHD improves with no treatment necessary. At other times the defect is so small and does not require any treatment. Most of the time CHD is serious and requires surgery and/or medications. Medications include diuretics, which aid the baby in eliminating water, salts, and digoxin and in strengthening the contraction of the heart. This slows the heartbeat and removes some fluid from tissues. Some defects require surgical procedures to repair as much as possible to restore circulation back to normal. In some cases, multiple surgeries are needed to be performed to help balance the circulation. Interventional cardiology now offers patients minimally invasive alternatives to surgery. Device closures can now be treated with a standard transcatheter procedure using a closure device mounted on a balloon catheter.

Pathological Findings

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

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  Tetralogy of Fallot: Gross, a good example of repaired perimembranous septal defect
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  Interventricular Septal Defect (Muscular Septum): Gross, natural color, muscular septal defect in newborn
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  Subvalvular Ventricular Septal Defect: Gross, good view of defect with overriding aorta

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  Ventricular Septal Defect: Gross, infant heart, pulmonary outlet, muscular septal defect
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  Atrioventricular Canal: Gross, right ventricular view of canal defect
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  Atrioventricular Canal: Gross, left ventricle view of canal defect (very good example)

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  Perimembranous Ventricular Septal Defect: Gross, an excellent example
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  Ventricular Septal Defect: Gross, subvalvular defect, left ventricle view of tetralogy of Fallot (very good example)

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  Subpulmonic Ventricular Septal Defect: Gross, a well shown lesion.
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  Subvalvular Ventricular Septal Defect
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  Subvalvular Ventricular Septal Defect

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  Ventricular Septal Defect: Gross, natural color, view of opened heart with lungs attached shows rather well a subvalvular VSD
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  Atrioventricular Canal: Gross, patch repair of defect seen from left side showing left atrial portion extending into a cleft mitral valve
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  Atrioventricular Canal: Gross, corrected defect with patch viewed from left side atrium and cleft mitral valve

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  Atrial Septal Defect: Gross, (an excellent example) foramen ovale defect with right ventricular hypertrophy and fatty infiltration of the right ventricular wall, enlarged right atrium
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  Ventricular Septal Defect: Gross close-up adult heart, small perimembranous septal defect (very good example)
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  Interventricular Septal Defect (Muscular Septum): Gross, natural color, low septal defect shown from aortic outlet. The same defect (with a probe in hole) shown from right ventricle.

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  Interventricular Septal Defect (Muscular Septum): Gross natural color right ventricular outlet (probe in defect) view from left ventricular side
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  Atrial Septal Defect: Gross natural color infant heart foramen ovale defect, septum secundum
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  Aortic Subvalvular Ventricular Septal Defect: Gross, natural color, septal defect has patch repair. Aortic valve is myxomatous. A complex case of truncus with interrupted arch.

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  Interventricular Septal Defect Membranous Septum: Gross natural color close-up (an excellent demonstration)
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  Interventricular Septal Defect Membranous Septum: Gross natural color small defect well shown. Aortic cusps are scarred and one is perforated
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  Subvalvular Ventricular Septal Defect: Gross, natural color, close-up view of aortic outflow tract with a large subvalvular defect

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  Membranous Interventricular Septal Defect: Gross natural color subvalvular defect with probe immediately inferior to membranous septum
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  Subvalvular Ventricular Septal Defect: Gross, fixed tissue, large subpulmonic defect apparently represent left displacement of the pulmonary artery
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  Interventricular Septal Defect: Gross, fixed tissue, opened right ventricular outflow tract positioned to show perimembranous septal defect (as surgeon would see it during repair)

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  Ventricular Septal Defect Muscular: Gross, natural color, view from right ventricle with probe in defect right ventricular hypertrophy is evident
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  Ventricular Septal Defect Muscular: Gross, natural color, view from left ventricle with probe in defect
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  Interventricular Septal Defect Subvalvular with Patch Repair: Gross natural color 19yo with Tetralogy of Fallot also shows overriding aorta

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  Interventricular Septal Defect Subvalvular with Patch Repair: Gross, natural color, close-up
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  Interventricular Septal Defect (Perimembranous) with Patch Repair: Gross, natural color, view from right ventricle. A case of inverted ventricles
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  Interventricular Septal Defect (Perimembranous) with Patch Repair: Gross, natural color, view from left ventricular outflow tract

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  Ventricular Septal Defect (Subvalvular): Gross, fixed tissue, small heart with opened aorta and subvalvular defect shown. A case of pulmonary artery atresia
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  Truncus Arteriosus with Subvalvular Ventricular Septal Defect: Gross, natural color, an excellent view of subvalvular defect. Quadricuspid truncus valve and type I origin of pulmonary arteries

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  Av Canal with Left Side Bjork Shiley Prosthetic Valve: Gross, natural color, a close-up view of valve and the bridging defect
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  Interventricular Septal Defect (Perimembranous) with Patch Repair: Gross, fixed tissue, a close-up view of patch repair from right ventricle

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  Conduit Right Ventricle to Pulmonary Artery: Gross, fixed tissue, opened conduit showing sutures into ventricle and patch closed perimembranous interventricular septal defect
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  Ventricular Septal Defect (Perimembranous): Gross, natural color, (quite good photo - lesion before the operation)
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  Ventricular Septal Defect (Subvalvular) Repaired: Tetralogy of Fallot; Gross, fixed tissue, close-up view of a large subvalvular defect repaired with a Dacron patch (overgrown with fibrous tissue prominent subaortic shelf with endocardial thickening).

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  Ventricular Septal Defect (Subvalvular) Repaired: Tetralogy of Fallot; Gross, fixed tissue, close-up view of a large subvalvular defect repaired with a Dacron patch
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  Ventricular Septal Defect (Subvalvular) Repaired: Gross, fixed tissue, close-up view of Dacron patch. Nearly completely covered with fibrous tissue
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  Transposition Great Vessels with Interventricular Septal Defect: Gross, fixed tissue, opened left ventricular outflow tract into a pulmonary artery (perimembranous defect)

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  Transposition Great Vessels with Interventricular Septal Defect: Gross, fixed tissue, close-up of interventricular septal defect and pulmonary valve
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  Double Outlet Right Ventricle: Gross, fixed tissue, close-up view of left ventricular outflow tract and patched ventricular septal defect. The override is obvious in this (very good) close-up view
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  Perimembranous Ventricular Septal Defect: Gross, fixed tissue, opened left ventricular outflow tract into aorta. Defect was patched 3 days prior to death

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  Perimembranous Ventricular Septal Defect: Gross, fixed tissue, lesion seen from right ventricle (with patch)
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  Perimembranous Interventricular Septal Defect: Gross, fixed tissue, view from right atrium and ventricle with patch placed three days prior to death.
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  Ventricular septal defect

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  Ventricular septal defect, view from left ventricle
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  Atrial Septal Defect, Septum Primum; View from Right Atrium (a 4 month old baby)
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  Atrial Septal Defect, Septum Primum; Also Cleft in Anterior Cusp of Mitral Valve

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  Hypoplastic left ventricle

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  Right Ventricle Hypoplasia: Gross natural color good example showing tiny tricuspid inlet and very small but quite thick right ventricle
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  Right Ventricle Hypoplasia: Gross natural color view from right atrium showing patent foramen ovale and very small tricuspid valve
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  Right Ventricle Hypoplasia: Gross natural color external view of heart showing very large left ventricle and very small right ventricle delineated by anterior descending branch of left coronary artery

See Also

• Congenital heart disease

External Links

• It's My Heart, Inc. - A National Non-Profit Organization who supports and advocates for those affected by Congenital Heart Defects
• Template:DMOZ
• General information about congenital heart defects
• Down's Heart Group. A charity offering support and information relating to heart conditions associated with Down's Syndrome.