Thoracic aortic aneurysm and dissection (TAAD)

The estimated population incidence of aortic dissection and rupture is 0.3 to 7.8 per 100,000 persons per year. A genetic cause is identified in the majority of syndromic forms such as Marfan or Loeys-Dietz syndrome, and in approximately 20-30% of nonsyndromic familial cases.

The genetic conditions associated with thoracic aortic aneurysm and dissection predominantly follow autosomal dominant inheritance, as documented in the current overview literature. Both syndromic and nonsyndromic forms are encompassed within this autosomal dominant spectrum. Less common alternative inheritance patterns, including X-linked and autosomal recessive forms, are described for individual entities.

• Where TAAD is suspected to have a genetic cause, molecular genetic testing can identify the underlying condition and confirm a clinical suspicion.
• The identified entity guides further clinical management and is a prerequisite for targeted medical care; therapeutic options are evaluated individually by the treating physicians.
• Identification of the underlying pathogenic germline variant enables predictive testing of at-risk family members and provides information relevant to family planning.

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