What is the primary inheritance pattern of Familial Thoracic Aortic Aneurysm and Dissection?

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Familial Thoracic Aortic Aneurysm and Dissection (TAAD) primarily follows an autosomal dominant inheritance pattern. This means that a single copy of the mutated gene inherited from either parent can lead to the development of the condition. Individuals with this inheritance pattern have a 50% chance of passing the mutation to each of their offspring.

The autosomal dominant nature of Familial TAAD is evident in how the disorder manifests in families, where affected individuals often have a family history of aortic aneurysms or dissections. The presence of the condition in multiple generations underscores the dominance of the mutant allele over the normal allele, allowing it to be transmitted from parent to child without requiring two copies of the gene.

In contrast, recessive inheritance would require two copies of a mutated gene for the condition to manifest, which is not typical for Familial TAAD. X-linked inheritance would indicate that the gene responsible for the condition is located on the X chromosome, generally affecting males more severely than females, which again does not apply to Familial TAAD. Mitochondrial inheritance pertains to genes found in mitochondrial DNA, which is inherited only from the mother, and is not relevant to the inheritance pattern of this condition.

Thus, the characterization

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