Table 3

Guilt by association indicators among family members

Regarding family members
SituationRecommendationComments
Patient affected by TAA (syndromic—Marfan, Ehler-Danlos, Loeys-Dietz)Image and genotype all first-order family members (ECHO±CT scan)Autosomal dominant inheritance (with incomplete penetrance)
Patient affected by TAA (non-syndromic)Image all first-order family members (ECHO±CT scan)21% likelihood of family member with known TAA (additional affected family members likely to be identified by imaging)
Patient affected by bicuspid aortic valveImage all first-order family members for bicuspid valve, TAA8% likelihood of family member being affected
  • ECHO, echocardiogram; TAA, thoracic aortic aneurysm.