Pursuing Evidence Behind Congenital Heart Defects

By Laurie A. Annunziato, Esq. and Samantha E. Shaw, Esq.
Thursday, March 26, 2020
Specialty: 

Congenital heart defects involve a structural abnormality of the heart that exists at birth. While overall rare, usually affecting 1% of all births, congenital heart defects are one of the most common birth defects in babies.

There are many different kinds of congenital heart defects and they can range in severity, with some requiring immediate interventions (even in utero) to others requiring no medical/surgical interventions. The cause of congenital heart defects is frequently unknown but can be linked to environmental factors or chromosomal abnormalities of unknown etiology. While there are certainly instances in medical malpractice cases where the claims involve causing the congenital heart defect, such as prescribing contraindicated medication during pregnancy, the majority of the cases that involve congenital heart defects claim there was a failure to detect/diagnose the abnormality and/or there was a failure to timely/appropriately treat. Regardless of whether the allegation is related to the failure to diagnose or the failure to timely treat, it is exceptionally important in defending these cases to never overlook the possibility of the congenital heart defect being a part of and/or related to a genetic syndrome. Identifying a genetic cause or even the possibility of a genetic link can help defend against claims of negligence and/or help to mitigate the claimed injuries.

Some genetic syndromes associated with congenital heart defects, such as Down syndrome, are well known and the genetic link can be quite apparent. However, most medical malpractice cases will not surround an obvious genetic association. Thus, in defending cases involving congenital heart defects, identifying and building the evidence to support a genetic connection can be imperative to the defense. Such evidence starts even before the prenatal period with the familial history. A family history of congenital heart disease is a known risk factor, increasing the likelihood of an infant being born with a congenital heart defect. Such information can frequently be found in the medical records of the parents that pre-exist conception of the subject infant.


Laurie A. Annunziato, Esq.


Samantha E. Shaw, Esq.

During the prenatal period, routine testing is performed, such as parental blood work, ultrasounds, nuchal translucency testing, chorionic villus sampling and amniocentesis. When there is an infant with a congenital condition, such as a heart defect, any other abnormal marker, even if it seems unrelated, will increase the likelihood of a genetic syndrome, even if the syndrome is not yet identifiable. For instance, infants born with a cleft lip/palate have a higher incidence of also having a heart defect despite the two conditions affecting distant parts of the body and appearing remote from each other. Looking for other genetic markers to support a syndrome is an area that should continue to be investigated throughout the infant’s childhood, as some conditions, such as cognitive delays, might not be obvious at birth.

Identifying genetic testing that may have been done on the infant post-birth or any genetic testing that was recommended and refused or not pursued is also important. Since there might be no further treatment or services that could be rendered to an infant, even with the identification of a chromosomal abnormality, a parent might choose to forgo genetic testing, especially if there is a pending litigation. In defending such cases where a possible genetic link is suspected, whether the defense should attempt to pursue genetic testing of an infant-plaintiff is a strategic and case-specific decision that must be made. As there are still significant limitations in genetic testing, the risk of obtaining a non-conclusive or negative genetic test result might outweigh the possibility of being able to identify the abnormality. Consulting with a pediatric cardiologist and geneticist prior to seeking genetic testing in litigation is the prudent course in helping to decide whether genetic testing should be pursued.

While congenital heart defects are not the only birth defect that can be genetically linked, as this is the most common birth defect and has a frequent unknown cause, the importance of obtaining all possible genetic information and evidence in defending these cases cannot be overlooked.


Laurie A. Annunziato and Samantha E. Shaw are Partners at Martin Clearwater & Bell LLP, where they focus their practice on defending major medical centers, individual doctors and physician practice groups, among other medical professionals. For more information, visit mcblaw.com.