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Alzheimer’s Disease (AD) affects approximately 6 million Americans and is the seventh leading cause of death in the US. Currently there is n...
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Although the cause is more generally unknown for HLHS, they have isolated a genetic cause in some patients. Two possible genetic mutations have been seen in patients with HLHS; changes in gene GJA1 with autosomal recessive inheritance, and changes in the NKX2-5 gene with autosomal dominant inheritance (NIH, 2021). HLHS has also been linked to such genetic disorders as Turner Syndrome, Jacobsen Syndrome, and other trisomies (NIH, 2021). Although there is still research to be done to help with more successful procedures, having some idea of the genetic origin can help to identify HLHS earlier and steer gene therapy research. Because there is an inheritance pattern for these mutations seen in HLHS, it brings up the ethical question about screening for HLHS both on prenatal screenings and before people plan to get pregnant. Ought we to screen for these mutations and provide more information to parents?
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NIH. (2021, November 8). Hypoplastic left heart syndrome - about the disease. Genetic and Rare Diseases Information Center. Retrieved November 26, 2022, from https://rarediseases.info.nih.gov/diseases/6739/hypoplastic-left-heart-syndrome