The Importance of Family Centered Care and Cascade Screening in Patients with Heritable Thoracic Aortic Aneurysm Disease.

Heritable thoracic aortic aneurysm diseases (HTAAD) may be either syndromic or non-syndromic. While family screening for all forms of HTAAD has been recommended, providing care to an entire family is often fragmented in our siloed healthcare delivery model. We sought to determine the frequency of cascade family screening in the current era with either cardiovascular imaging (cascade cardiac screening) and/or genetic testing (cascade genetic screening), and to assess the impact of such testing on adverse outcomes in first degree family members. Of the 184 HTAAD patients who presented to our academic center without a known family history of aneurysmal disease, 84 were followed in a cardiology clinic, 40 in a genetics clinic and 60 in a combined cardiovascular genetics clinic for both children and adults. Cascade cardiac or genetic screening of ≥ 1 family member occurred during the course of care in 138 of 184 (75%) families. Complete cascade screening (genetic and/or cardiac) of all at-risk first-degree family members occurred in only 61 (33%) families and varied by clinic type (12%, 10% and 78%, p = 0.001) for those initially evaluated in a cardiology, genetics, or combined cardiovascular genetics clinic. As a result of cascade screening or an aortic event, 461 additional family members were identified as at risk for an aortic event. Of these, 53 family members from 42 families experienced an unexpected HTAAD-related event. Cascade screening was associated with a lower incidence of an event (1/53 vs. 52/53, p < 0.0001) during follow-up. Clinics that offer family-based care and on-site cascade screening facilitate timely diagnosis and intervention thereby reducing mortality from aortic disease.