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summary/abstract
When someone is diagnosed with transthyretin amyloid cardiomyopathy (ATTR-CM), one of the first questions is whether the condition could affect other family members. In the hereditary form of the disease, a gene mutation can be passed from parent to child, making genetic counseling and family conversations an important next step.
Understanding the Genetic Link
ATTR-CMexternal link, opens in a new tab occurs when a protein called transthyretin (TTR) becomes unstable and loses its normal shape. These abnormal proteins stick together and form clumps called amyloid fibrils that build up in the heart, making the heart muscle stiff and less able to pump blood normally.1