Congenital heart defects affect about 1% of newborns, but even for the majority that survive, the quest for good health continues into adulthood. On-going research indicates that children who survive the heart condition are at higher risk for developing other respiratory illnesses and other neurodevelopment health problems including unique learning challenges, autism and attention deficit disorders.
Dr. Martina Brueckner, a professor of pediatrics and genetics at Yale School of Medicine, and her team of researchers analyzed genes from 2,900 survivors of congenital heart defects and their family members. Although congenital heart defects don’t cause the other diseases, Dr. Brueckner says some of the genes implicated in patients with a heart condition were also linked to autism.
This study reinforces previous research by the National Heart, Lung and Blood Institute (NHLBI) that indicated a link between gene mutations that contribute to congenital heart disease and to neurodevelopmental abnormalities in children that affect cognitive, motor, social and language skills.
About Congenital Heart Defects
A congenital heart defect is a condition that exists at birth. Although commonly referred to as congenital heart disease, it is not considered a disease because the condition is an abnormality, resulting when the heart or blood vessels near the heart don’t develop normally before birth. Several hundred genes are involved in the development of a normal heart which occurs between the 3rd and 8th week of pregnancy. Abnormal development can take many unique forms that can affect the heart’s ability to pump blood—and therefore deliver oxygen-- throughout the body. Sixty years ago, many babies did not survive having a major heart defect, but thanks to advances in diagnosis and treatment, many abnormalities can be fixed. Today, over 90% of children with congenital heart defects survive into adulthood.
Congenital heart defects can range from mild to severe. Most of the time we cannot identify a specific cause. However, the defects may result from measles and other infections encountered early in pregnancy, be a component of other inherited conditions, be as a result of a genetic condition such as Down Syndrome or result from drug or alcohol use during pregnancy.
Depending on the severity of a heart defect, a baby or child may have no symptoms, or can be very ill at the time they are first seen. Symptoms can include rapid breathing, tiredness, or a bluish tint to the skin, lips or fingernails. Doctors can diagnose a congenital heart defect during a physical exam by listening to your child’s heart with a stethoscope, or by using other tests including an echocardiography (ultrasound), electrocardiogram (EKG) or a chest x ray Not all heart defects are severe enough to be treated, but those that do may require repair through catheter procedures or surgery.
Implications of the Research
Investigators are increasingly looking at the impact genes can have on health. Scientists know that genes are associated with neurodevelopment disorders that affect the brain and central nervous system, and include attention deficit/hyperactivity disorder (ADHD), autism, cerebral palsy, learning, movement and speech disabilities.
There is certainly evidence that specific genes may affect the heart and the other systems such as the neurological system. This knowledge allows doctors, patients and their families to better detect and diagnose problems sooner. Importantly, knowledge of problems with neurodevelopment will allow patients, families and educators to better anticipate the unique needs of these children as they grow to become active healthy adults.
Heart Disease Prevention Guide
We know that managing your heart health can be a daunting task. That’s why we’ve created a guide for patients to serve as a resource.