Inborn Heart Disease

You sure may have heard about 'blue babies.' But please don't get it wrong. The 'blue' should not be in any way taken as a reference to their bloodline. Blue babies are not descendants of royal families and noble clans. Well, at least, not necessarily. Blue babies are actually infants inflicted with one of the many possible inborn heart defects. To your surprise, there are even cases of 'pink babies.'

Congenital heart disease is the abnormal formation of the heart, usually of the large blood vessel. The word congenital means being present at birth. So congenital heart disease means a heart's defect already present at the onset of birth. Since this kind of defect is already present the moment a human life is born, the condition is most prevalent, if not exclusive, among new born babies. Defects affecting the heart are actually the most ordinary birth defects, causing most of the inborn abnormality-related death cases. Just like most defects affecting the heart, inborn heart disorder is an abnormality to the flow of the blood. It may be in the form of obstruction or incorrect flow pattern.

Of all possible inborn abnormalities, inborn heart defect accounts for eight in every 1,000 cases, close to 1% of newborn babies. A major factor of this disease being congenital is genetic predisposition. Genetic influence accounts for the 5 percent of all babies with inborn heart defects. Genetic diseases such as Apert syndrome, Conradi syndrome, Crouzon syndrome, Carpenter syndrome, Cornelia de Lange syndrome, and cutis laxa are identified by medical research and studies to increase the risk of having inborn heart defects. Mothers having diabetes mellitus, specifically those who have deficient glucose level in the blood during pregnancy, are very likely to give birth to babies with inborn heart defects. Also, pregnant women with phenylketonuria (PKU)and poor diet have high chances of having babies with inborn heart defects. Many pregnant women having retinoic acid treatment for acne increases the risk of their babies having inborn heart disorders. Anticonvulsant drugs (hydantoins or Dilantin) and valproate taken during pregnancy also increases the risk of babies having inborn heart defects.

Disorders in the chromosomes also contribute as high risk factors of inborn heart defects. This factor is known to account for the 3% of infants with inborn heart defects. Down's Syndrome is a chromosomal disorder leading to inborn heart defects. On rough estimates, almost half of kids having Down's syndrome also suffer from inborn heart disorders. Patau syndrome and Edwards syndrome are also chromosomal defects known to be high risks factors of inborn heart disorders. Turner syndrome, a disorder in the sex chromosome (having only one x chromosome), places 40 percent risk rate of inborn heart defects. Albeit its lower risk level than the others, environmental components are also contributory to risks of inborn heart defects. German measles and alcoholism of pregnant women can lead to their babies being born with heart defects.

It may be a great wonder for many why pre-birth detection cannot be done to diagnose inborn heart defects. This is so because the fetuses' blood circulation inside the womb is different from how it is after birth. No need to further elaborate on how do they differ. The point is that the difference leads to bringing to light the inborn heart defects. Usually, inborn heart disorders are only detected once symptoms like shortness of breath, skin discoloration, fainting, dizziness, inferior appetite, and poor growth are observed.

'Blue babies' and 'pink babies' are the most common but just two of the many types of inborn heart defects. 'Blue babies' or cyanotic defect is the bluish discoloration of the skin due to poor oxygen supply in the blood. 'Pink babies' or acyanotic defect, on the other hand, is the abnormal shunting (left to right vasculature) or the absence of oxygen. Other types of inborn heart defect are Hypoplastic heart defects (underdeveloped parts), Atrial septal defect, Eisenmenger's complex, Ventricular septal defect, endocardial cushion defect, Ebstein's anomaly, and many others.

There exists no single, universal treatment for inborn heart defects. The kind of treatment needed depends on the particulars of each specific case. The type of the inborn heart defect, age, general health condition, and heart size will all matter in determining the necessary treatment. Surgery is the most common option, though.

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