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

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Massardier C, Desroches F, Singbo N, Côté JM, Drolet C, Houde C, Vaujois L, Chetaille P.
Pediatr Cardiol. 2020 Aug 26. doi: 10.1007/s00246-020-02423-x. Online ahead of print.
PMID: 32851436

Take Home Points:

• Bicuspid aortic valve is the most common congenital heart disease with the prevalence of 1 to 2% in the general population and is now considered heritable.
• Echocardiographic screening of first-degree relatives of patients with bicuspid aortic valve is recommended. An autosomal dominant pattern of inheritance with incomplete penetrance is suspected.
• This study demonstrated a prevalence of 6% of bicuspid aortic valve in first-degree relatives (FDR).

Comment from Dr. Shaji Menon (Salt Lake City, Utah), section editor of Pediatric Cardiology Journal Watch:   In this retrospective single center study from Canada, a total of 713 first-degree relatives of 213 consecutive index cases with the median age of 11 years were studied.  Bicuspid aortic valve (BAV) was found in 6.6% of first-degree relatives and 5.4% had aortic valve dysfunction.  A total of 2.9% subjects had ascending aorta dilation.  One third of first-degree relatives didn’t perform the screening. Screening was done in 482 (67.6%), prescribed but not done in 134 (19%), not prescribed in 92 (13%) and declined in 5 (1%) FDR. BAV was more frequent in men (68.5%) and most of cases had BAV with raphe (87.2%), largely represented by BAV type L-R (57.8%). By univariate analysis, no significant associations were found between screening positivity in first degree relatives and aortic valve morphology, aortic valve dysfunction or ascending aorta dilatation severity in index cases. The prevalence of BAV in first-degree relative was similar to prospective adult studies and supports actual guidelines in pediatric cardiology practice. Ascending aorta dilatation was rare in our young population. Exhaustiveness and additional burden to implement current guidelines remain a challenge in daily practice.