Q. How is hole in heart a genetic disorder? Is it heritable by the children, if yes or no ,then give suitable reason?

Doctor Answer is medically reviewed by SecondMedic medical review team.

Answered by Seconmedic Expert

Hole in the heart is a genetic disorder that is caused by a defect in one or more of the genes that control how the heart forms during prenatal development. It is usually inherited from one parent and can be passed down to children. The exact mode of inheritance depends on which gene(s) are affected and whether both copies have been damaged or only one copy has mutated.

When both copies of a gene are malfunctioning (known as autosomal recessive inheritance), this type of genetic disorder tends to be passed down through families, even though parents may not show signs or symptoms themselves. This means there is an increased risk for siblings who have one parent with an abnormal gene, especially if they also have other family members that suffer from it too. If an affected child has two carrier parents, then their children will each have a 25% chance of inheriting two abnormal genes, leading to their own hole in the heart diagnosis.

The hole in the heart can also arise from mutations occurring spontaneously during fetal development (termed de novo mutation). In such cases, there may not be any history of the condition in either parent’s family, but these instances still account for roughly 20-30% of all diagnosis cases worldwide.  In these scenarios, any subsequent children will only carry a risk depending on how many carrier genes remain in your family genetics pool following testing - any new mutations being unlikely due to lack ancestry factors involved.

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