Genetics and Aortic Dissections

Genetics plays a significant role in aortic dissections, with roughly 20% of cases having a known heritable cause. These genetic factors can influence the risk, progression, and management of aortic dissections, including the timing of surgical intervention.

Genetic Predisposition and Aortic Dissections:

Inherited Conditions:

Aortic dissections can be part of larger syndromes like Marfan syndrome or Loeys-Dietz syndrome, or they can occur as isolated (non-syndromic) aortic disease.

Monogenic vs. Polygenic:

Some cases are caused by mutations in a single gene (monogenic), while others are influenced by multiple genes (polygenic) or a combination of genetic and environmental factors.

Dominant Inheritance:

Genetic predisposition to aortic dissections is often inherited in an autosomal dominant manner, meaning only one copy of the mutated gene is needed to increase the risk.

Family History:

Individuals with a family history of aortic aneurysms, dissections, or related cardiovascular issues are at higher risk.

Clinical Significance:

Identifying the genetic cause of aortic dissection can help determine the best course of management, including monitoring, surgical thresholds, and screening recommendations for family members.

Genes Involved:

Several genes are known to be associated with thoracic aortic aneurysms and dissections (TAAD), including:

FBN1:

Mutations in this gene are a common cause of Marfan syndrome, which can include aortic dissections.

TGFBR1 and TGFBR2:

These genes are associated with Loeys-Dietz syndrome, another condition that can lead to aortic dissections.

ACTA2, MYLK, SMAD3, MYH11, and others:

Mutations in these genes can also cause non-syndromic TAAD.

COL3A1:

Mutations in this gene can cause vascular Ehlers-Danlos syndrome, which includes a risk of aortic dissections.

Genetic Testing:

Genetic testing can be valuable for individuals with:

Aortic or arterial aneurysms at a young age

Rapidly progressive or multiple aneurysms

A family history of aneurysms or dissections.

Testing can help identify the specific genetic cause, guide management decisions, and inform family screening.

In summary, genetics plays a crucial role in the development of aortic dissections. Understanding the genetic basis of these conditions is essential for personalized management and prevention, including identifying individuals at risk and optimizing treatment strategies.

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