The Genetic Connection: Exploring The Overlap Between Congenital Heart Disease, Heart Defects & Alzheimer’s

Congenital heart diseases (CHDs) affect many newborns worldwide, and their causes are often multifactorial, ranging from environmental influences to genetic abnormalities. Approximately 5-10 per cent of congenital heart diseases are attributable to genetic abnormalities. 

Some may have chromosomal abnormalities like Trisomy 21, Trisomy 13 or Trisomy 1. Some Congenital Heart Diseases might be associated with Turner's syndrome. Certain diseases like William’s syndrome, DiGeorge Syndrome, Noonan syndrome, and Familial Atrial Septal Defects can be seen as related to genetic abnormalities.

Certain Chromosomal Abnormalities like Down’s syndrome are associated commonly with cardiac problems like Atrial Septal Defects, Ventricular Septal Defects and Valvular abnormalities.

Down syndrome is also associated with the early development of Alzheimer’s disease which can be detected early if a diagnosis can be made in utero.

There are various tests which are available which can detect cardiac abnormalities before birth inside the womb like foetal echocardiogram and appropriate steps can be taken after birth to correct these cardiac abnormalities.

There are certain tests which can help in the detection of genetic abnormalities like Karyotyping which can help in early detection and management of these genetic abnormalities.

Genetic factors play a crucial role in congenital heart diseases, particularly when chromosomal abnormalities like Down syndrome are involved. Early detection through prenatal tests and genetic screening can make a significant difference in managing these conditions, offering children a healthier start in life. As research in genetics and prenatal care advances, the ability to identify and treat congenital heart diseases continues to improve, underscoring the importance of early intervention in preventing long-term complications.

The author is , a consultant cardiologist, Ruby Hall Clinic, Wanowrie, Pune. 

Dr. Anesh Jain

Guest Author consultant cardiologist, Ruby Hall Clinic, Wanowrie, Pune.