Individuals with a family history of aortic dissection (AD) may be at increased risk of developing this disease, according to a study published in the Journal of the College of Cardiology.1

The data of 23,868 patients diagnosed with AD between 2000 and 2015 were obtained from the Taiwan National Health Insurance database. In the 1:10 propensity score-matched cohort, patients with AD and with or without a family history of AD (n=93 and n=894, respectively) were included. A claims-based registry parent–offspring relationship algorithm was used to reconstruct the genealogy of patients to estimate AD heritability.

Having a first-degree relative with AD was associated with an adjusted relative risk (aRR) of 6.82 (95% CI, 5.12-9.07). A family history of AD, after exclusion of people with bicuspid aortic valve and Marfan syndrome, was associated with an aRR of 6.56 (95% CI, 4.92-8.77). The estimated heritability of AD, using a liability threshold mode, was 57.0% for genetic factors, 3.1% for shared environmental factors, and 40.0% for nonshared environmental factors.

Individuals with AD and a first-degree relative with AD had an increased risk for later aortic surgery compared with individuals with AD but without a family history of the disease (subdistribution hazard ratio, 1.40; 95% CI, 1.12-1.76).


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Limitations of the study include the reliance on International Classification of Diseases, Ninth Revision, Clinical Modification codes for identifying AD diagnoses, which could have led to misclassification of cases, as well as the lack of imaging data — and therefore of information on AD severity and subtype — for patients with AD.

“We recommend routine imaging and genetic screening of individuals with a family history of AD, noted the study authors. “Close surveillance and aggressive control of risk factors or even preventive aortic replacement in high-risk populations may decrease the frequency of dissection and possibly reduce mortality through an earlier preclinical diagnosis in affected families.”

“[This study] adds confirmative evidence for the thorough screening of family members that many of us who work in this field have advocated for decades,” noted the authors of an accompanying editorial.2 “Those free of the pathogenic variant for AD can, to a large extent, be spared intense imaging follow-up and the emotional concerns of vulnerability to this virulent disease.”

References

1.     Chen SW, Kuo CF, Huang YT, et al. Association of family history with incidence and outcomes of aortic dissection. J Am Coll Cardiol. 2020;76(10):1181-1192. doi:10.1016/j.jacc.2020.07.028

2.     Elefteriades JA, Ziganshin BA. It runs (strongly) in the family. J Am Coll Cardiol. 2020;76(10):1193-1196. doi:10.1016/j.jacc.2020.07.029