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Welcome, medical contents search April 26, 2013
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Congenital Heart Disease

more about Congenital Heart Disease

Pediatric heart disease, heart defects, genetic heart disease

  • Congenital Heart Disease (CHD) usually refers to an abnormality in the anatomy of the heart
  • One of the 4 heart valves may be deformed or absent.
  • An abnormal connection of one or more veins entering the heart may occur.
  • An abnormal connection of one or more arteries leaving the heart may occur.
  • An abnormal connection between two heart chambers may be present.
  • We will discuss 4 common CHD conditions.

  • Cyanosis, pallor, dyspnea, fatigue, and edema are common symptoms, but symptoms are variable, depending on the disease.
  • We will discuss 4 common examples of CHD: Atrial Septal Defect (ASD), Ventricular Septal Defect (VSD), Patent Ductus Arteriosus (PDA), and tetralogy of Fallot.
  • ASD (Atrial Septal Defect) : This is a non-cyanotic defect.  This condition may not be apparent for many years, because symptoms often are absent.  When symptoms occur, dyspnea (shortness of breath) and fatigue are noted.  The communication between the 2 atrial chambers (the 2 upper heart chambers) may be quite small, but even a large shunting of blood (from the left to the right side of the heart) may cause only minimal distress in these patients.  A Heart Murmur is noted over the upper part of the heart. See Atrial Septal Defect entry.
  • VSD (Ventricular Septal Defect): This is usually a non-cyanotic defect, usually apparent to the physician during the child's infancy because a Heart Murmur is noted.  Often, no murmur is present at birth, but is heard at the first checkup because of the shift in blood flow that occurs (in the change from fetal blood circulation to the infant's fully-established blood circulation pattern).  There is an abnormal communication between the ventricles (the 2 lower chambers of the heart).  Small defects may have no symptoms.  Large defects may have cyanosis, heart failure, and increased blood pressure in the lungs (pulmonary hypertension).  See Ventricular Septal Defect entry.
  • PDA (Patent Ductus Arteriosus) : This is a non-cyanotic defect.  Symptoms and Heart Murmur are usually not noted in the newborn nursery because the infant's blood circulation pattern is not yet fully established.  The mother might later feel or see a great deal of chest movement, due to increased blood flow through the chest.  Large PDA's cause heart failure in the first 4 weeks of life.  The PDA is a fetal structure, connecting the pulmonary artery to the aorta.  Its persistence in the infant circulation, when it was supposed to have closed, causes the symptoms.
  • Tetralogy of Fallot : Sick during the first 3 months of life, usually showing cyanosis.  This defect includes in its components, a narrow pulmonary artery (impairing blood flow to the lungs) and a communication between the ventricles.  Shortness of breath is common after feedings or exertion.  In older children with tetralogy, they squat to relieve their shortness of breath because this posture diverts more blood to the lungs.  The patient often has sudden spells of cyanosis/fainting.  The child is usually small.
  • Ranking these conditions from most frequent to least, the order is: VSD, ASD, PDA, tetralogy of Fallot.

  • Inheritance, in some cases

  • Symptoms of the particular condition
  • Medical examination may reveal cyanosis, pallor, signs of heart failure, or Heart Murmur (a noise in the heart, heard with a stethoscope)
  • Chest X-ray, EKG (electrocardiogram), echocardiogram, cardiac catheterization

  • Prematurity
  • Inherited forms of CHD (genetic)
  • Mother's exposure to radiation or toxic drugs
  • Mother's use of anticonvulsant medicine (medication for Seizures)
  • Living at high altitudes increases the risk of a particular CHD: Patent Ductus Arteriosus
  • Diabetic mothers have a risk of CHD.

  • Minor symptoms can usually be controlled with medication.
  • Major symptoms, or major defects in the anatomy, usually require surgery to repair the defective anatomy.
  • Treatment of ASD: see Atrial Septal Defect entry
  • Treatment of VSD: see Ventricular Septal Defect entry
  • Treatment of PDA: the PDA that does not spontaneously close is closed surgically by tying-off the tube of tissue that connects the pulmonary artery to the aorta, or is closed non-surgically by blocking the opening with a metal piece, inserted through a catheter.
  • Treatment of tetralogy: A partial repair is possible, or a complete repair is done to surgically correct the complete set of defects.

  • If the congenital heart disease is severe, the patient's organs may be severely damaged from lack of oxygen; or CHD may cause the body to go into shock.
  • The organs may also be severely damaged from lack of circulation of the nutrients ordinarily in the bloodstream.
  • CHD can impair circulation of the blood, or cause blood to circulate to the wrong areas.

  • Notify your physician promptly, since these symptoms often create an emergency.

  • May have the same symptoms:
    1. Lung disease
    2. Anemia
    3. Severe infection

more about Congenital Heart Disease

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