Congenital Heart Defects (CHD)

By Argentina Chrappa

What is a Congenital Heart Defect? “Congenital” simply means present from birth

The defect results when the heart or blood vessels near the heart don't develop normally before birth

It is the most common birth defect

History

Pediatric cardiac surgery began when Dr. Gross performed the first successful surgery.

August 8, 1938

Children’s Hospital of Boston

SymptomsTypically diagnosed in infancy or before birth

Symptoms include:

Breathing difficulties, feeding problems, or poor weight gain.

Some babies are blue or have very low blood pressure shortly after birth

Affects on FamilyThe presence of a serious CHD often results in an enormous emotional and financial strain on families

Family education is an important part of successful coping.

Cause of the Disease

The first gene linked to CHD has recently been discovered by Peter Gruber and research is ongoing

The gene, ISL1, plays a key role in regulating early cardiac development, so there is a compelling biological reason for investigating it as a genetic risk factor for CHD

Gruber’s StudyGruber collected DNA samples from 300 children with CHD and from 2,200 healthy children

The research team looked for gene variants (mutations) in the DNA of genes in or near the ISL1 gene.

When combined with results from the genetics team at the University of Michigan, the researchers found eight of these alternative spellings in DNA bases (single-nucleotide polymorphisms, or SNPs) raised the risk of CHD.

Final Results of the Study

Mutation in gene ILS1 on chromosome 5 raises the risk of congenital heart disease

The gene findings do not directly affect treatment for children with CHD

But as future studies better define exactly how a mutation leads to a specific type of heart defect, we may be better able to predict how a gene variant affects other organ systems

Factors that increase likeliness of

CHDDrugs such as retinoic acid for acne, chemicals, alcohol, and infections (such as rubella) during pregnancy can contribute to some congenital heart problems.

Poorly controlled blood sugar in women who have diabetes during pregnancy has also been linked to a high rate of congenital heart defects.

TreatmentMedication: Some medicines can control a heartbeat that isn't regular. Others make the heart stronger until a defect can be fixed.

Heart Catheterization: A procedure that can find out details about the defect, or possibly repair it.

Surgery: It can repair a structural defect.

Identification of Disease

Most congenital heart defects are found during a pregnancy ultrasound. When a defect is found, a pediatric heart doctor be there when the baby is delivered - which could save its life.

Anyone can have a child with a congenital heart defect. Out of 1,000 births, 9 babies will have some form of CHD. If you or a family member has already had a baby with CHD, your risk of having a baby with CHD may be higher.

Bioethical Considerations

It is unclear how CHD patients should be transitioned from pediatric to adult cardiology providers. Most adult cardiologists are ill-equipped to care for their special needs.

Success in the treatment of CHD comes at a price. Not only are therapies and follow up care increasingly costly, but also some patients will suffer a reduced quality of life.

Bioethical Considerations

Heart transplant provides a solution for many children with complex congenital lesions, but it then subjects them to the side effects of life-long immunosuppressive therapy. Many will require re-transplant and currently there are not enough donors for all who require life-saving transplants.

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