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Birth Defects - Genetic

Medindia’s support group on genetic birth defects discusses the transmission and management of several birth abnormalities passed on through the parents’ genes, including Down syndrome, Achondroplasia, Hemophilia and Cystic fibrosis.

If you have concerns on any genetic birth defect, this support group will help clarify all your queries on the subject.


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: Hypoplastic Right Heart Syndrome (HRHS),

If child has been diagnosed with another single ventricle defect such as: Hypoplastic Right Heart Syndrome (HRHS),

If any have received the diagnosis while they are pregnant they have time to learn about the condition, and make some important decisions:

1) Which treatment option to pursue: Heart Transplant or the 3-Stage Surgical Procedure
2) Where to deliver the baby
3) Where to have the baby's surgery performed.

hypoplastic Left Heart Syndrome (HLHS) is a condition in which the left side of the heart is underdeveloped. Usually, the left ventricle, the left atrium, the mitral valve and the aorta are affected. It is called a syndrome because it can encompass several different variations and varying degrees of development of these parts of the heart.

To understand HLHS, it is helpful to understand how a normal baby's heart works. The heart is comprised of four chambers: the upper chambers are called the left and right atria, and the lower chambers are called the left and right ventricles.

Very simply, in a healthy heart blood flows from the right atrium to the right ventricle where it is then pumped through the pulmonary artery to the lungs to be oxygenated. Blood then flows back to the heart via the left atrium to the left ventricle, which pumps this oxygenated blood through the aorta out to the body. This is how the body's organs and tissue receive oxygen, which is vital. When a baby has HLHS, the left side of the heart is underdeveloped so it cannot sufficiently pump the oxygenated blood out to the body.

Babies with HLHS do not have problems while in the womb - it is only after birth that the heart fails to work properly. This is because all babies receive oxygen from the placenta while in the womb, so blood does not need to go to the lungs. In addition, there is an opening between the pulmonary artery and the aorta, called the patent ductus arteriosus (PDA) that is present in all babies. It allows the blood to go from the right ventricle out to the body, bypassing the left side of the heart.

The PDA usually closes a few days after birth, separating the left and right sides of the heart. It is at this time that babies with undetected HLHS will exhibit problems as they experience a lack of blood flow to the body. They may look blue, have trouble eating, and breathe rapidly. If left untreated, this heart defect is fatal - usually within the first few days or weeks of life.

Posted on : Sunday, August 1, 2010 4:57 AM
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Symptoms:The symptoms start to appear after babies are born because when in the womb, there is Foramen Ovale and a Patent Ductus Arteriosus;the two connections in the heart which get closed when the baby is born.First symptom is difficulty in breathing and a bluish hue starts to appear on the skin, the lips ,and other parts of the body. http://heart-consult.com/articles/149/what-you-should-know-about-hypoplastic-right-heart-syndrome-hrhs
Replied on Saturday, December 18, 2010 12:08 AM

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