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In this section of our website you will find up-to-date information on health care issues related to Down syndrome. We trust you will find this information useful. We encourage you to contact us for questions or suggestions at (518) 438-1113 or e-mail at .

Our services at the Centre du syndrome de Down are devoted to helping individuals with Down syndrome get access to appropriate health care, from birth to adulthood, so that they can reach their fullest potential.

Wednesday, 29 June 2011 10:36

Cardiac Issues and Down Syndrome

Written by  Dr. Harm Velvis

Congenital Heart Disease
Congenital heart disease (heart disease which is present at birth) is very common in children with Down syndrome.  Around 40-50% of newborns with Down syndrome will have some type of congenital heart defect.  This will often require medications and some type of intervention such as open-heart surgery or a cardiac catheterization.  Sometimes the defects are relatively minor and do not need any treatment.  Fortunately, nowadays the overwhelming majority of congenital heart defects in infants and children with Down syndrome can be fully corrected.  You are most likely overwhelmed with all the new diagnoses:  the diagnosis of Down syndrome, the diagnosis of congenital heart disease.  It is important to realize that you are not alone.  Other parents with similar experiences and the Centre du syndrome de Down  are available for support.  Your pediatric cardiologist will monitor and see your child as much as needed and make sure that the best possible medical care is provided.

Types of Congenital Heart Disease
The most common congenital heart defect in children with Down syndrome is an Atrio-Ventricular Septal Defect (also know as AV canal or endocardial cushion defect).  In this defect, there is a hole in the wall between the two upper chambers (an atrial septal defect), a hole in the wall between the two lower chambers (a ventricular septal defect) and one common valve between the upper and lower chambers (instead of two separate valves).  Other congenital heart defects common in children with Down syndrome are an isolated Ventricular Septal Defect, an isolated Atrial Septal Defect, a Patent Ductus Arteriosus (an abnormal vessel connecting the arteries to the body with the arteries to the lungs), and Tetralogy of Fallot (a combination of a ventricular septal defect and obstruction between the right lower chamber and the arteries to the lungs).  An atrio-venticular septal defect and Tetralogy of Fallot will generally require open-heart surgery.  Treatment options for ventricular septal defects, atrial septal defects, and patent ductus arteriosus depend on the size of the defect and varies from observation to surgery to an intervention during a cardiac catheterization.  Your pediatric cardiologist will discuss your child's exact heart defect and the required treatment in detail with you.

Medical Management of Congenital Heart Disease
Most types of congenital heart disease in children with Down syndrome will result in excessive blood flow to the lungs.  The symptoms of this are fast breathing, poor feeding, and poor weight gain.  The following medications are often used to help the heart deal with the extra and excessive blood flow:  Digoxin (which makes the heart pump stronger), Furosamide (which removes extra water through the kidneys), and an ACE-inhibitor (which lowers the blood pressure).  Children with congenital heart disease often need extra calories for good nutrition and adequate weight gain.  Extra calories can be provided by adding calories to the formula or breast milk, or by giving some or all of the feedings through a little tube placed through the nose into the stomach (an NG tube).

Other Issues in Congenital Heart Disease
Routine immunizations are important in infants and children with congenital heart disease.  Influenza vaccine should be an important consideration from beyond 6 months of age.  Prevention of Respiratory Syncytial Virus (RSV, a common respiratory virus in the winter, causing bronchiolitis and pneumonia) with a series of immunizations is essential in those with significant congenital heart disease.

And...
Make sure you ask your pediatric cardiologist and your congenital heart surgeon questions, until you fully understand what is wrong with your child's heart and what needs to be done.  Write your questions down before any visit.  Use the Medical Record Book provided by the Centre du syndrome de Down to record all medical information.  Use the Internet or the Centre du syndrome de Down Library to get more information. 

Your child having a congenital heart defect can be scary, confusing, worrisome, and intense.  This is all normal.  Remember that, in general, your child has an excellent chance to do very well.


Dr. Harm Velvis
Pediatric Cardiologist, Capital District Pediatric Cardiology Associates
Clinical Associate Professor, Dept. of Pediatrics, Albany Medical Center Hospital