Endocardial Cushion Defect

          Endocardial cushion defect is also called atrioventricular septal defect (AVSD). AVSD involves problems with the structure of the heart. The heart normally has 2 upper chambers (atria) and 2 lower chambers (ventricles). A normal heart also has 2 heart valves (the tricuspid and mitral valves) that separate the upper and lower chambers.

ENDOCARDIAL CUSHION DEFECT
ENDOCARDIAL CUSHION DEFECT	NORMAL

          In AVSD, there may be a large hole in the center of the heart where the wall (septum) joins the upper and lower chambers of the heart. The tricuspid and mitral valves may not be separate. Instead, there can be one large valve between the upper and lower chambers of the heart (common atrioventricular valve).

The large opening in the center of the heart allows the oxygen-rich (red) and the oxygen-poor (blue) blood to mix. The heart pumps blood in a way that is not efficient and becomes enlarged.

          AVSD is the result of a problem with heart development before birth. The cause is unknown, although it is commonly found in infants with Down syndrome.

          Endocardial Cushion defect is a congenital anatomical anomaly where anatomical construction of the heart valves is not completed. The heart valves are extensions of endocardium, therefore, any defect occurs in endocardium, it affects the anatomical configuration of the heart valves leading to abnormal physiological performance of cardio-vascular system. It allows oxygenated and de-oxygenated blood to mix resulting blue babies. The long-term survival of these patients is very remote. During the period of their survival, they suffer from breathlessness, tiredness, cannot play with their friends, inadequate mental and physical development and their death is certain within 16 years of age.

(Endocardial cushion defect- Aditya Dutta, a 14 years old school student was suffering from endocardial cushion defect, treated with Baruah applied human genetic engineering since 2005. He is now asymptomatic and brightest student.)

               In a year of 2005, a school boy of 16 years was presented with cyanotic lips, tip of nose along with cyanose clubbing of toes and tip of the fingers. He was unable to concentrate in school and his growth was retarded. As a whole, he had retarded mental and physical growth.. Chest X-ray has suggested uniform enlargement of the heart with basal congestion of both the lungs. He was suffering from frequent cold, cough and fever, requiring medical attention. Echocardiogram has shown RV pressure is high, left to right shunt with high pulmonary vascular resistance. He was treated by using Baruah genetic engineering with Baruah biological molecules. Patient responded to this genetic engineering very well and within, two weeks, his cyanosis disappeared and finger and toes becomes pink. His breathlessness has reduced to minimal, so is the tiredness and which has allowed him to play with his friends with improved exercise tolerance.. He was able to concentrate on his school work and perform extremely well in examination. His cold, cough with fever has been disappeared completely.

          His defective genes in form of expressed m-RNA were engineered with Baruah biological molecules which reduces the high pressure on right side of the heart, thereby reducing the percentage of venous blood perfusion and increasing arterial blood allowing more oxygenated blood for tissue perfusion.. This process has remarkably reduces tissue cyanosis and blue ness of lips, toes and finger nails. Size of clubbing of toes and finger nails has been reduced. Excessive accumulation of Calcium in mitochondria and endoplasmic reticulum due to higher concentration of deoxygenated perfused blood was removed and allowing mitochondria to synthesize more ATP. His ejection power of myocardoium is improved with change of skin colour. He is leading a normal life since last three years. With genetic engineering treatment, he has reached to the age of 19, with normal mental, physical growth. He is a brighter student.

               Genetic engineering is new in cardio-vascular sciences with excellent outcome. Complex critical congenital heart disease like Endocardial Cusion;s syndrome was never been successfully surgically reconstructed and their death was certain at the age of 16. With application of genetic engineering, this has changed the entire scenario of treatment and results of complex congenital heart diseases . Therefore, genetic engineering is the treatment of choice for these cases which allows them longer and better survival.