What Are Genetic Alterations And Mutations?

Some genetic changes are harmless (or benign). These genetic changes (or alterations) may be the cause of people having different eye color or different hair color. None of these differences impacts our health. However, some genetic changes can impact our health and these are often called mutations or pathogenic genetic changes. Mutations can be the cause of specific health problems, such as cardiomyopathy or arrhythmia. When people have a mutation in a gene that is important in the structure or function of the heart, the gene may no longer work like it should. This can cause someone to have an abnormal heart rhythm (arrhythmia) or abnormal muscle forming in the heart (cardiomyopathy).

You may be wondering about how gene mutations occur in a family. We are learning more and more about the causes of gene mutations every day. It's not always clear why some people carry them and others do not. In families with inherited heart conditions, many relatives may carry the same gene mutation and develop similar heart problems. However, even within the same family carrying the same gene mutation, some family members will develop the disease earlier than others, some will have milder symptoms, while others will have more severe symptoms.