American Heart Month- The Value of Genetic Testing for Congenital Heart Defects
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February is American Heart Month, and at PreventionGenetics, we work with healthcare providers to identify the genetic causes of Congenital Heart Defects. Congenital Heart Defects (CHDs) are the most common birth defect, occurring in 6-10 babies per 1000 live births (Hoffman and Kaplan J Am Coll Cardiol 39:1890-1900, 2002). Congenital Heart Defects can be caused by a number of factors including chromosomal abnormality, teratogen exposure, infection during pregnancy, and smaller genetic anomalies that can be detected by sequencing and deletion/duplication testing (Chaix et al. World J Cardiol 8(2): 180-191, 2016). CHDs can vary greatly in severity and manifestation. Some CHDs, such as small ventricular septal defects (VSDs), often close without intervention; whereas others can be lethal or can involve additional birth defects as part of a larger underlying syndrome (Chaix et al. World J Cardiol 8(2): 180-191, 2016).
Early Diagnosis for CHDs is Important
Early detection and accurate diagnosis is critical to improve outcomes and to tailor health plans to fit each patient’s needs. Approximately one-quarter of babies with CHDs require surgery within their first year of life, and infant mortality is high. About 30-50% of childhood deaths due to birth defects are related to congenital heart disease (Gilboa et al. Circulation 122(22): 2254-2263, 2010). CHDs also have a large impact on healthcare costs. In 2004 alone, approximately $1.4 billion healthcare dollars were spent on hospitalizations for congenital cardiac and circulatory defects in the U.S. (Russo & Elixhauser HCUP Statistical Brief #24, 2007). Today, the majority of CHDs are diagnosed prenatally, but approximately 10% of critical CHDs are still being diagnosed after being discharged from the hospital (Liberman et al. Pediatrics 134(2): e373-381, 2014). At PreventionGenetics, we are constantly working to decrease our turnaround time while maintaining the high-quality of our genetic testing to ensure that patients are being diagnosed accurately and in a timely manner.
Genetic Causes of CHDs
At PreventionGenetics, we test for genetic variants associated with both syndromic and non-syndromic congenital heart defects. Congenital Heart Defects that are associated with a syndrome account for approximately 30% of cases of CHD (Chaix et al. World J Cardiol 8(2): 180-191, 2016). Some of these syndromes include Noonan Syndrome (NS), Alagille Syndrome, and Holt-Oram Syndrome. Although the phenotypes for these syndromes include CHDs, they also involve other organ systems, and may require additional treatment and monitoring to address additional health concerns. Below are links to some of our Test Descriptions that include additional clinical features, clinical sensitivity and additional information.
Noonan Spectrum Disorders/Rasopathies NextGen Sequencing Panel
Alagille Syndrome NextGen Sequencing Panel
Holt-Oram Syndrome (HOS) Testing via TBX5 Sequencing
PreventionGenetics also offers testing for several genes associated with nonsyndromic congenital heart defects. Although the phenotypes associated with these variants are limited to the heart, having variants in certain genes can indicate an increased risk of other heart problems (Chaix et al. World J Cardiol 8(2): 180-191, 2016).
GATA4 Sequencing for Isolated Nonsyndromic Congenital Heart Defects
NKX2-5 Sequencing for Isolated Nonsyndromic Congenital Heart Defects
ZFPM2 (FOG2) Sequencing for Isolated Nonsyndromic Congenital Heart Defects
Genetic testing for CHDs gives healthcare providers the tools they need to accurately diagnose patients, build a treatment plan around the genetic cause of the CHD, and provide inheritance information to inform families of the risk of CHDs for other family members. In situations where family members want to pursue testing, we offer targeted testing options.
For additional cardiovascular tests on our menu see our Cardiovascular Tests by Category.
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