Ventricular Septal Defects

Disease Overview

Ventricular septal defects are heart defects that are present at birth (congenital). The normal heart has four chambers. The two upper chambers, known as atria, are separated from each other by a fibrous partition known as the atrial septum. The two lower chambers are known as ventricles and are separated from each other by the ventricular septum. Valves connect the atria (left and right) to their respective ventricles. The aorta, the main vessel of arterial circulation, carries blood from the left ventricle and away from the heart.

Ventricular septal defects can occur in any portion of the ventricular septum. The size and location of the defect determine the severity of the symptoms. Small ventricular septal defects can close on their own; (spontaneously) or become less significant as the child matures and grows. Moderately-sized defects can cause congestive heart failure, which is characterized by an abnormally rapid rate of breathing (tachypnea), wheezing, unusually fast heartbeat (tachycardia), enlarged liver (hepatomegaly), and/or failure to thrive. Large ventricular septal defects can cause life-threatening complications during infancy. Persistent elevation of the pressure within the artery that carries blood away from the heart and to the lungs (pulmonary artery) can cause permanent damage to the lungs. The exact cause of ventricular septal defects is not fully understood.

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Synonyms

• Congenital Ventricular Defects
• Hole in the Heart
• VSD

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Subdivisions

• Common Ventricle
• Cor Triloculare Biatriatum
• Eisenmenger Syndrome
• Maladie de Roger
• Roger Disease

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Signs & Symptoms

Infants with small ventricular septal defects may have no symptoms unless they experience infection that spreads to the lining of the heart and the valves (infective endocarditis). This form of the disease is known as Roger’s disease.

Infants with moderate ventricular septal defects may experience the symptoms of congestive heart failure. These may include excessive fatigue and difficulty breathing during feeding or periods of activity. Some infants may experience poor feeding; cold, grayish arms and legs; and/or rapid, shallow breathing. Ventricular septal defects of moderate size are also characterized by abnormal enlargement of the heart (cardiomegaly) and heart murmurs.

A large ventricular septal defects can cause severe symptoms in infants. If the septum is entirely absent, the 2 ventricles come together to form a single chamber. This condition is known as common ventricle or cor triloculare biatriatum. In infants and children, large defects generally cause growth retardation and progressive heart failure. Other symptoms may include poor feeding; a slight bluish discoloration on the skin, lips, and mouth (cyanosis); rapid difficult breathing; excessive accumulation of fluid in the lungs and around the heart (pulmonary edema), and/or the elevation of pressure within the major artery that sends blood to the heart (pulmonary artery hypertension).

Older children and adults with ventricular septal defects may develop Eisenmenger syndrome, which is characterized by the progressive impairment of the pulmonary blood vessels (vascular obstructive disease). Symptoms may include chest pain, difficulty breathing (dyspnea) after physical exertion, and episodes of fainting. Other symptoms may include the coughing up of blood from the lungs (hemoptysis) and abnormally low levels of oxygen in the circulating blood (hypoxia). Over time, hypoxia can result in clubbing of the fingers and the proliferation of red blood cells (polycythemia).

Some infants with small or moderate sized ventricular septal defects may be at increased risk for acute inflammation of the valves and lining of the heart (infective endocarditis).

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Causes

The exact cause of VSDs is not known. These defects probably occur as the result of errors in the development of an embryo. During the early part of fetal development there is no wall (septum) to separate the left and right ventricles. As the fetus grows, so does a muscular wall that splits the lower chamber into two ventricles. If the muscle does not form a solid wall, a hole remains and is what is called the ventricular septal defect. The why and how of these developmental errors is not fully understood. However, research suggests that they may occur as the result of the complex interaction of many factors, both genetic and environmental (multifactorial).

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Affected populations

Ventricular septal defects are rare congenital malformations of the heart that occur more frequently in males than females. Approximately 1 percent of newborns have a congenital heart defect. About 25 to 30 percent of these infants are diagnosed with ventricular septal defects. Of the babies born with VSDs, 80 to 90 percent present with a small hole and mild symptoms.

Most infants with ventricular septal defects have a single malformation that is not associated with any other disorder. Occasionally, infants may have ventricular septal defects in association with other malformation syndromes. These may include fetal alcohol syndrome, trisomy syndromes, fetal hydantoin syndrome (associated with a drug used to treat epilepsy), postrubella infection (German measles), maternal phenylketonuria (PKU), and other disorders.

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Disorders with Similar Symptoms

Symptoms of the following disorders may be similar to those of ventricular septal defects. Comparisons may be useful for a differential diagnosis:

Atrial septal defects are common congenital heart defects characterized by the presence of a small opening between the two atria of the heart. These defects lead to an increase in the workload on the right side of the heart as well as excessive blood flow to the lungs. The symptoms, which may become apparent during infancy, childhood, or adulthood, depend on the severity of the defect and can vary greatly. The symptoms tend to be mild at first and may include difficulty breathing (dyspnea), increased susceptibility to respiratory infections, and/or abnormal bluish discoloration of the skin and mucous membranes (cyanosis). Some people with atrial septal defects may be at increased risk for the formation of blood clots that can travel to the major arteries (embolism) and block blood circulation. (For more information on this disorder, choose “atrial septal defect” as your search term in the Rare Disease Database.)

Atrioventricular septal defect is a rare heart defect that is present at birth (congenital) and characterized by the improper development of the septa and valves of the heart. Infants with the complete form of the defect usually develop congestive heart failure. Excessive fluid accumulates in other areas of the body, especially the lungs. Pulmonary congestion may lead to difficulty breathing (dyspnea). Other symptoms may include a bluish discoloration of the skin (cyanosis), poor feeding habits, abnormally rapid breathing (tachypnea) and heart rate (tachycardia), and/or excessive sweating (hyperhidrosis). Adults with atrioventricular septal defect may experience abnormally low blood pressure, irregular heartbeats, and/or a rapid heartbeat. (For more information on this disorder, choose “atrioventricular septal defect” as your search term in the Rare Disease Database.)

Cor Triatriatum is an extremely rare congenital heart defect characterized by the presence of an extra chamber above the left atrium of the heart. The pulmonary veins, returning blood from the lungs, drain into this extra “third atrium.” The symptoms of Cor Triatriatum vary greatly and depend on the size of the opening between the chambers. Symptoms may include abnormally rapid breathing (tachypnea), wheezing, a bluish discoloration to the skin (cyanosis), coughing, and/or abnormal accumulation of fluid in the lungs (pulmonary congestion). (For more information on this disorder, choose “Cor Triatriatum” as your search term in the Rare Disease Database.)

Mitral valve stenosis is a rare heart defect that may be present at birth (congenital) or acquired. It is characterized by the abnormal narrowing of the opening of the mitral valve. In the congenital form, the symptoms vary greatly and may include coughing, difficulty breathing, heart palpitations, and/or frequent respiratory infections. In acquired mitral valve stenosis, the symptoms may also include weakness, abdominal discomfort, chest pain (angina), and/or periodic loss of consciousness.

Tetralogy of Fallot is the most common form of cyanotic congenital heart disease. Cyanosis is the abnormal bluish discoloration of the skin that occurs because of low levels of circulating oxygen in the blood. Tetralogy of Fallot consists of a combination of 4 different defects: a ventricular septal defect; obstructed outflow of blood from the right ventricle to the lungs (pulmonary stenosis); a displaced aorta, which causes blood to flow into the aorta from both the right and left ventricles (dextroposition or overriding aorta); and abnormal enlargement of the right ventricle (right ventricular hypertrophy). Symptoms may include difficulty breathing (dyspnea), fatigue, loss of appetite, slow weight gain, heart murmurs, an abnormal increase in the number of red blood cells (polycythemia), clubbing of the fingers and toes, and/or delayed physical growth. (For more information on this disorder, choose “Tetralogy of Fallot” as your search term in the Rare Disease Database.)

Ventricular septal defects may occur in association with a variety of other disorders including Holt-Oram Syndrome, FG Syndrome, Genitopalatocardiac Syndrome, Fryns Syndrome, certain forms of Dandy-Walker Syndrome, Cardiomyopathy-Hypogonadism-Collagenoma Syndrome, Familial Idiopathic Cardiomyopathy, Simpson Dysmorphia Syndrome, Fetal Alcohol Syndrome, DiGeorge Syndrome, various Trisomy Syndromes, maternal alcoholism, maternal ingestion of phenylhydantoin, postrubella infection, and maternal Phenylketonuria. (For more information on these disorders choose “Holt- Oram,” “FG,” “Fryns,” “Dandy-Walker,” “Simpson Dysmorphia,” “Fetal Alcohol,” “DiGeorge,” “Trisomy,” and “Phenylketonuria” as your search terms in the Rare Disease Database.)

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Standard Therapies

The diagnosis of ventricular septal defects is confirmed by a thorough clinical evaluation and specialized tests that allow physicians to evaluate the structure and function of the heart as well as the exact nature of the defect. X-ray studies and electrocardiogram (EKG) results may help to confirm the diagnosis. In one procedure, ultrasonic waves are directed toward the heart (Doppler echocardiogram), enabling physicians to study the motion and function of the heart and the surrounding vessels. During cardiac catheterization, a small hollow tube (catheter) is inserted into a large vein and threaded through the blood vessels that lead to the heart. This procedure allows physicians to determine the rate of blood flow through the heart, measure pressure within the heart, and thoroughly identify anatomical abnormalities.

Although surgery is the definitive treatment for ventricular septal defects, it may not be recommended for all infants with these defects. Surgery is not indicated for infants with small ventricular septal defects that may close on their own or become less significant as the child matures and grows. Conservative treatment may include careful monitoring of symptoms and heart function.

Medical management of infants with ventricular septal defects before surgery includes treatment of the symptoms related to congestive heart failure. Drugs such as digoxin may help to prevent irregular heartbeats and excessively rapid heartbeats (tachycardia). Restriction of salt in the diet, drugs that help to eliminate excessive fluid from the body (diuretics), and bed rest may also be effective therapies for congestive heart failure. Nutritional considerations are also important in infants with ventricular septal defects. Respiratory infections should be treated vigorously and early. Because of the risk of bacterial infection of the lining of the heart and the valves (endocarditis), individuals with ventricular septal defects should be given antibiotic drugs before any surgical procedure, including dental procedures such as tooth extractions.

If symptoms persist after conservative treatment, open heart surgery is usually recommended to repair ventricular septal defects. Surgery during infancy or childhood has a high rate of success and it can prevent pulmonary vascular disease. One of several surgical procedures may be considered for the repair of the defect. The exact procedure is selected based upon the severity and location of the defect. Surgery may consist of closure of the hole in the septum with stitches (sutures) or with a patch (dacron or allograft).

Other indications for surgical repair in infants with ventricular septal defects include congestive heart failure that is not responsive to medical management, poor weight gain, and/or significant pulmonary artery hypertension. Surgery is also suggested when the heart is abnormally enlarged (cardiomegaly) or there is significant exchange of blood from the left to right side of the heart (shunting), with resistance to the entry of blood into the lungs.

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Clinical Trials and Studies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

Studies are underway to devise nonsurgical techniques that may improve the treatment of ventricular septal defects.

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References

TEXTBOOKS

Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:2201-02.

Berkow R., ed. The Merck Manual-Home Edition.2nd ed. Whitehouse Station, NJ: Merck Research Laboratories; 2003:1514-15, 1516.

Larson DE, ed. Mayo Clinic Family Health Book. New York, NY: William Morrow and Company, Inc; 1996:52.

Fauci AS, Braunwald E, Isselbacher KJ, et al., eds. Harrison’s Principles of Internal Medicine. 14th ed. McGraw-Hill Companies. New York, NY; 1998:1304.

Behrman RE, Kliegman RM, Arvin AM, eds. Nelson Textbook of Pediatrics. 15th ed. W.B. Saunder Company. Philadelphia, PA; 1996:1292-94.

REVIEW ARTICLES

Bhat AH, Sahn DJ. Congenital heart disease never goes away, even when it has been ‘treated’: the adult with congenital heart disease. Curr Opin Pediatr. 2004;16:500-07.

Lofland GK. Pulmonary atresia, ventricular septal defect, and multiple aorta pulmonary collateral arteries. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2004;7:85-94.

Knauth AL, Lock JE, Perry SB, et al. Transcatheter device closure of congenital and postoperative residual ventricular septal defects. Circulation. 2004;110:501-07.

Myhre U, Duncan BW, Mee RB, et al. Apical right ventriculotomy for apical ventricular septal defects. Ann Thorac Surg. 2004;78:204-08.

Ho SY, McCarthy KP, Rigby ML. Morphology of perimembranous ventricular septal defects: implications for transcatheter device closure. J Interv Cardiol. 2004;17:99-108.

Maslen CL. Molecular genetics of atrioventricular septal defects. 2004;19:205-10.

Goldstein JA, Casserly IP, Balzer DT, et al. Transcatheter closure of recurrent post myocardial infarction ventricular septal defects utilizing the Amplatzer postinfarction VSD device: a case series. Catheter Cardiovasc Interv. 2003;59:238-43.

DeVore GR. The role of fetal echocardiography in genetic sonography. Semin Perinatol. 2003;27:160-72.

Kanstantinov IE, Coles JG.The role of intraoperative device closure in the management of muscular ventricular defects. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2003;6:84-89.

FROM THE INTERNET

Bruckheimer E. Ventricular septal defect. Medical Encyclopedia. MedlinePlus. Update Date: 5/17/2004. 4pp.www.nlm.nih.gov/medlineplus/print/ency/article001099.htm

Congenital Heart Defects. National Heart, Lung, and Blood Institute. NIH. nd. 13pp.www.nhlbi.nih.gov/health/dci/Diseases/chd/chd_all.html

Ventricular Septal Defect. National Heart, Lung, and Blood Institute. NIH. nd. 12pp.www.nhlbi.nih.gov/health/dci/Diseases/vsd/vsd_all.html

Ventricular Septal Defect (VSD). American Heart Association. 2005. 2pp.www.americanheart.org/presenter.jhtml?identifier=11066

Ventricular Septal Defect (VSD). American Heart Association. 2005. 2pp.www.americanheart.org/presenter.jhtml?identifier=1306

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