Tuesday, October 23, 2012

Congenital Heart Disease in Children with Down Syndrome

Children with Down syndrome are at a much higher risk for congenital heart disease. As a comparison: the incidence of congenital heart disease in the general population is 0.8 percent. The incidence of congenital heart disease in children with Down syndrome is between 40-60 percent. Some heart defects can be left alone with careful monitoring while others require surgery to correct the problem. The following types of heart defects in children with Down syndrome are discussed below. Atrioventricular Septal Defects (AVSDs) – These are the most common in children with Down syndrome. Ventricular Septal Defects (VSDs) Atrial Septal Defects Patent Ductus Arteriosus Tetralogy of Fallot What is AVSDs? Atrioventricular Septal Defects (AVSDs) These heart defects are defined b a hole in the wall between the top chambers (atria) and bottom chambers (ventricles) and one common valve between the two areas. In some cases, there might not be a hole between the bottom chambers. Or the valves may not be joined together, but either or both might leak. This is known as valve incompetence. Because of the high pressure in the left ventricle which is needed to pump the blood around the body, blood is forced through the holes in the central heart wall (septum) when the ventricle contracts. This increases the pressure in the right ventricle. This increased pressure (pulmonary hypertension) results in excess blood flow to the lungs. Symptoms Some of the early symptoms seen are difficulty in eating, weight gain, fast irregular breathing and a degree of cyanosis (blueness) particularly noticeable around the mouth, fingers and toes. Clinical examination may show an enlarged heart and liver, and a diagnosis of ‘heart failure' may be given. This term is used because of the flow of blood from one side to the other; the heart has to work harder than normal causing the heart to fail to work normally. Not all children will exhibit symptoms early in life, and those that do will not always show all of these. Treatment Early treatment may involve the use of diuretics to control the fluid retention around the body and to reduce the volume of blood in the circulation, thus making the heart's workload easier. These may be used in conjunction with other drugs that increase the contraction of the heart muscle. Slow weight gain may indicate the need to use high-calorie formula increase calorie intake. Severe eating problems may warrant using a naso-gastric tube (through the nose and directly into the stomach) to help with proper nutrition. The majority of cases of AVSD usually require surgical intervention; this generally takes place within the first six months of life. What is VSDs? Ventricular Septal Defects (VSDs) In this defect there is a hole between the bottom chambers (pumping chambers or ventricles). Because of the higher pressure in the left side of the heart, this allows oxygenated blood to flow through the hole from the left to the right side of the heart, and back to the lungs, in addition to the normal flow. The amount of blood flow from the left to right ventricle depends on the size of the hole and on the pressure between the ventricles. In other words, the higher the rate of flow means more strain on the heart. The abnormal blood flow is responsible for the murmur that may be heard. Symptoms Generally patients with a small VSD will not exhibit symptoms (they are asymptomatic) and the problem may only be found when a murmur is detected upon routine examination. Patients with a moderate VSD may breathe quickly, exhibit poor weight gain, and be slower at eating. These children are also much more prone to chest infections. This tends to be more pronounced when the hole is large. Treatment As with ASVDs, patients with moderate or large holes usually require treatment with diuretics to control fluid retention and to reduce the volume of blood in the circulation may be used. Also, high-calorie formula or tube feedings might be necessary. Many VSDs will close spontaneously or get much smaller, so it is normal practice to leave a child with a small or moderate VSD and monitor their progress before deciding to operate. Surgery may be needed if there is failure to thrive despite medication, or concern about pulmonary hypertension. If a large VSD is present, surgery is almost always recommended.

1 comment:

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