Clinical and genetic aspects of bicuspid aortic valve: a proposed model for family screening based on a review of literature

Hubert Baars*, Eline Overwater, Marieke Baars, Barbara Mulder, Wilhelmina Kerstjens-Frederikse, Klaartje van Engelen, Arjan Houweling

*Corresponding author for this work

    Research output: Contribution to journalReview articlepeer-review

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    Abstract

    Bicuspid aortic valve (BAV) is the most common congenital cardiac defect causing serious morbidity including valvular dysfunction and thoracic aortic aneurysms (TAA) in around 30% of BAV patients. Cardiological screening of first-degree relatives is advised in recent guidelines given the observed familial clustering of BAV. However, guidelines regarding screening of family members and DNA testing are not unequivocal. The aim of this review is to provide an overview of the literature on echocardiographic screening in first-degree relatives of BAV patients and to propose a model for family screening. In addition, we provide a flowchart for DNA testing. We performed a PubMed search and included studies providing data on echocardiographic screening in asymptomatic relatives of BAV patients. Nine studies were included. In 5.8-47.4% of the families BAV was shown to be familial. Of the screened first-degree relatives 1.8-11% was found to be affected with BAV. Results regarding a potential risk of TAA in first-degree relatives with a tricuspid aortic valve (TAV) were conflicting. The reported familial clustering of BAV underlines the importance of cardiological screening in relatives. After reviewing the available family history, patient characteristics and the results of cardiological screening in relatives, follow-up in relatives with a TAV and/or DNA testing may be advised in a subset of families. In this study we propose a model for the clinical and genetic work-up in BAV families, based on the most extensive literature review on family screening performed until now.

    Original languageEnglish
    Article number4842
    Pages (from-to)1-8
    Number of pages8
    JournalCardiogenetics
    Volume5
    Issue number1
    DOIs
    Publication statusPublished - 2015

    Keywords

    • bicuspid aortic valve
    • thoracic aortic aneurysm
    • genetics
    • family screening
    • MARFAN-SYNDROME
    • RISK-FACTORS
    • MAGNETIC-RESONANCE
    • NOTCH1 MUTATIONS
    • NATURAL-HISTORY
    • ROOT DIMENSIONS
    • ASCENDING AORTA
    • DISEASE
    • DILATATION
    • ANEURYSMS

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