First-Degree Relatives Screening of Patients with Bicuspid Aortic Valve: Effectiveness and Feasibility in Pediatric Cardiology Daily Practice

Massardier, Claire; Desroches, Florence; Singbo, Narcisse; Côté, Jean‐Marc; Drolet, Christian; Houde, Christine; Vaujois, Laurence; Chétaille, Philippe

doi:10.1007/s00246-020-02423-x

Cited by 5 publications

(3 citation statements)

References 23 publications

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Section: Heritability and Familial Screeningmentioning

confidence: 99%

“…Recent retrospective reviews of echocardiographic screening identified BAV in ∼7% and aortic dilation in ∼3 to 13% of FDRs [15,16 ▪ ]. Massardier et al [15] found that the prevalence of BAV and/or AsAo dilation was not associated with commissural morphology, valve dysfunction, or aortic dilation in the proband. Miller et al [16 ▪ ] identified higher prevalence of aortopathy in FDRs of probands with aortic dilation compared with BAV without dilation, supporting the utility of aortopathy screening.…”

Section: Heritability and Familial Screeningmentioning

confidence: 99%

“…Despite demonstrating the importance of screening, the same studies identified inadequate current screening practices. Massardier et al found that screening was conducted in ∼68% of FDRs ( n = 713), prescribed but not completed in 19%, not prescribed in 13%, and declined in 1%; specific barriers to screening were not identified [15]. Miller et al [16 ▪ ] calculated an overall screening uptake of only ∼39% in 388 at-risk siblings.…”

Section: Heritability and Familial Screeningmentioning

confidence: 99%

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Bicuspid aortic valve and its ascending aortopathy

Dunne

Lacro

Flyer

2023

Current Opinion in Pediatrics

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Purpose of review To synthesize and critically assess recent clinical and research advancements in pediatric bicuspid aortic valve (BAV) and its associated aortopathy. Recent findings In pediatric patients with BAV, progressive aortic dilation (i.e. bicuspid aortopathy) is commonly present and associated with increased risk for aortic aneurysm, dissection, and surgery in adulthood. Ongoing research explores the cause, incidence, and progression of bicuspid aortopathy to promote earlier diagnosis and improve preventive management. Recent findings include: high familial incidence and need for improved familial screening; safety of recreational physical activity in most affected children; potential for medical management to slow aortic growth; feasibility of pediatric registries to evaluate longitudinal outcomes; and potential genetic and hemodynamic biomarkers for disease risk stratification. Summary Pediatric bicuspid aortopathy is an important area for investigation and preventive management to improve long-term cardiovascular outcomes. Recent literature promotes familial screening, recreational exercise, medical prophylaxis, registry-based longitudinal evaluation, and continued scientific inquiry.

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Section: Heritability and Familial Screeningmentioning

confidence: 99%