Uptake of Screening and Recurrence of Bicuspid Aortic Valve and Thoracic Aortic Aneurysm Among At-Risk Siblings of Pediatric Probands

Abstract

Objective: To determine uptake of cardiac screening and recurrence of bicuspid aortic valve (BAV) and thoracic aortic aneurysm (TAA) in a population of at-risk siblings of pediatric probands.

Study design: A retrospective chart review of pediatric patients with known BAV and/or TAA was performed. Echocardiogram data from identified siblings were collected to determine screening uptake and recurrence of BAV and TAA. Statistical analyses were performed using Wilcoxon signed-rank test and chi-square.

Results: The cohort included 251 probands and 388 at-risk siblings. Among the siblings, 150 had at least 1 echocardiogram, giving an overall screening uptake of 38.7%. The only factor found to be associated with increased uptake was documented recommendation for screening of first-degree relatives in the proband's initial cardiology note (P = .03). A total of 11 screened siblings (7.3%) had BAV and 19 had TAA (12.7%), with an overall combined recurrence of 15.3%. Siblings of probands who had both BAV and TAA had increased recurrence of TAA compared with siblings of probands with isolated BAV (16.1% vs 3.9%, respectively).

Conclusions: Given low uptake in at-risk siblings, the opportunity exists to assess barriers for families in pursuing the recommended screening. Furthermore, the relatively high recurrence of BAV and TAA in at-risk siblings highlights the potential for improved health outcomes through increased screening and early detection. Developing standardized guidelines and promoting early cardiac screening in at-risk siblings while counseling families about hereditary risk for BAV and TAA may help improve uptake and optimize clinical management in at-risk pediatric patients.

Keywords: aortopathy; cardiac screening; cardiology; genetics.