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 Dr Sajan Koshy,Senior Consultant Paediatric Cardiac Surgery,Aster Medcity, Kochi Congenital mean present from birth and Congenital Heart Disease (CHD) therefore
refers to a disease or a physical abnormality of the heart that is present from
birth. It results from abnormal development during pregnancy and is the most
common congenital disorder in newborns. In Kerala, the occurrence is estimated
to be as per the global patterns with 6 to 13 CHD per 1000 births. This means
around 5000 babies are born in the state every year with congenital heart
defects. Those which require surgical intervention in the first year of life are
referred to as ‘Critical CHD’ and comprise about a quarter of all the CHDs. As
with most other diseases, early diagnosis can lead to proper treatment at a
tertiary center reducing mortality and morbidity.
Types of Congenital Heart Disease
CHDs are of two types – Cyanotic, where the child has bluish discoloration,
especially of lips and fingertips, and Non-cyanotic CHD.
Risk Factors
A doctor should suspect and check for CHD if there is, i) a family history of
CHD, ii) existing genetic syndromes like Down’s syndrome and premature births,
iii) Mother is suffering from diabetes, hypertension, obesity, thyroid disorders
or epilepsy, and iv) Mother is a smoker and drinker and these are associated
with cardiac defects, v) Babies born using reproductive technology like
fertility medication and in-vitro fertilization (a slight increase in risk), vi)
infection inside the uterus, like rubella, herpes virus, etc.
Signs and Symptoms
After birth, it is usually the mother who realizes something is wrong. She may
notice difficulty with feeding, fast or hard breathing that gets worse with
feedings, or a persistent cough. A doctor can also suspect CHD if there are
color changes or child is very pale, if there is excessive sweating particularly
on the head and with poor weight gain. Inactivity or excess sleeping or delay in
the growth milestones can also lead a doctor to suspect CHD. Routine examination
can lead a doctor to discover presence of a cardiac murmur, or absence of
peripheral pulses could point to diagnosis.
Diagnosis of CHD
Pulse oximetry is a simple and inexpensive method to diagnose CHD. The test
helps to detect reduced oxygen saturation level in the blood. Routine diagnostic
methods like a chest X-ray and ECG also help a doctor make an accurate diagnosis
in. CT scan and MRI will help to reveal the details of the defect. Rarely,
invasive methods like cardiac catheterization are used.
Types of Heart Defects
There are many kinds of heart defects depending on the valve and location
affected, of which the bicuspid aortic valve (BAV) defect is the most common.
The aortic valve is the main valve between the heart and the aorta which takes
blood from the heart to all over the body. This is not usually diagnosed in
infancy.
The next most common defects are ventricular septal defects (VSDs) and atrial
septal defects (ASDs, which are defects in the walls of the heart chambers.
Fourth is the Tetralogy of Fallot (TOF) which is the most common cyanotic CHD.
Treatment
Surgery is the gold standard to correct the defect. The timing of starting
treatment is an important aspect. Early treatment and management makes all the
difference in children with critical CHD. Conditions like ventricular septal
defect (VSD) can be repaired after 3 months unless some life threatening
situation arises in the meantime. Common condition like ASD is repaired as child
enters school going age. Advances in modern surgery allows some defects can be
treated by cardiac catheterization based treatment.
Surgery allows the child near normal life expectancy and quality of life, if not
permanent cure. Patients who present in adulthood (Grown up congenital heart
disease or GUCH) can also be treated.
Prevention
Prevention may not always be possible but following a healthy life style,
attending regular checkups and avoiding unnecessary medications mothers at risk
can reduce the chance of CHD developing.
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