Yield of family screening in patients with isolated bicuspid aortic valve in a general hospital

Luc Cozijnsen; Hester J van der Zaag-Loonen; Richard L. Braam; Mirjam Bakker de Boo; Jan G. Post; Berto J. Bouma; Barbara J M Mulder

doi:10.1016/j.ijcard.2017.12.046

Yield of family screening in patients with isolated bicuspid aortic valve in a general hospital

Luc Cozijnsen^*, Hester J van der Zaag-Loonen, Richard L. Braam, Mirjam Bakker de Boo, Jan G. Post, Berto J. Bouma, Barbara J M Mulder

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Aim: To determine the prevalence of unidentified bicuspid aortic valve (BAV) or aortic dilatation (>. 40. mm) in first degree relatives (FDR) of patients with isolated BAV in a general hospital. Methods and results: Patients with isolated BAV received information advising cardiac screening of their FDR. Referred and screened were 134 FDR of 54 adult index patients with isolated BAV (median 2 per index patient). FDR's mean age was 49. years (range 16-83. years) and 41% were male. They comprised 5 parents (3.7%), 52 siblings (39%) and 77 offspring (57%). Among these FDR, the prevalence of BAV was 6.0% (8 patients). In FDR without BAV, 10 (7.5%) had aortic dilatation. 'Familial BAV' was present in 9/54 families (17%). Conclusion: In a general hospital, screening of FDR of patients with isolated BAV resulted in a substantial yield of 13% new cases with BAV or aortic dilatation without BAV.

Original language	English
Pages (from-to)	55-58
Number of pages	4
Journal	International Journal of Cardiology
Volume	255
DOIs	https://doi.org/10.1016/j.ijcard.2017.12.046
Publication status	Published - 15 Mar 2018

Keywords

Bicuspid aortic valve
Congenital heart disease
Family screening

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10.1016/j.ijcard.2017.12.046

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@article{d0e3cc5004d843e3af1ca7a6e9f18382,

title = "Yield of family screening in patients with isolated bicuspid aortic valve in a general hospital",

abstract = "Aim: To determine the prevalence of unidentified bicuspid aortic valve (BAV) or aortic dilatation (>. 40. mm) in first degree relatives (FDR) of patients with isolated BAV in a general hospital. Methods and results: Patients with isolated BAV received information advising cardiac screening of their FDR. Referred and screened were 134 FDR of 54 adult index patients with isolated BAV (median 2 per index patient). FDR's mean age was 49. years (range 16-83. years) and 41\% were male. They comprised 5 parents (3.7\%), 52 siblings (39\%) and 77 offspring (57\%). Among these FDR, the prevalence of BAV was 6.0\% (8 patients). In FDR without BAV, 10 (7.5\%) had aortic dilatation. 'Familial BAV' was present in 9/54 families (17\%). Conclusion: In a general hospital, screening of FDR of patients with isolated BAV resulted in a substantial yield of 13\% new cases with BAV or aortic dilatation without BAV.",

keywords = "Bicuspid aortic valve, Congenital heart disease, Family screening",

author = "Luc Cozijnsen and \{van der Zaag-Loonen\}, \{Hester J\} and Braam, \{Richard L.\} and Boo, \{Mirjam Bakker de\} and Post, \{Jan G.\} and Bouma, \{Berto J.\} and Mulder, \{Barbara J M\}",

year = "2018",

month = mar,

day = "15",

doi = "10.1016/j.ijcard.2017.12.046",

language = "English",

volume = "255",

pages = "55--58",

journal = "International Journal of Cardiology",

issn = "0167-5273",

publisher = "Elsevier Ireland Ltd",

}

TY - JOUR

T1 - Yield of family screening in patients with isolated bicuspid aortic valve in a general hospital

AU - Cozijnsen, Luc

AU - van der Zaag-Loonen, Hester J

AU - Braam, Richard L.

AU - Boo, Mirjam Bakker de

AU - Post, Jan G.

AU - Bouma, Berto J.

AU - Mulder, Barbara J M

PY - 2018/3/15

Y1 - 2018/3/15

N2 - Aim: To determine the prevalence of unidentified bicuspid aortic valve (BAV) or aortic dilatation (>. 40. mm) in first degree relatives (FDR) of patients with isolated BAV in a general hospital. Methods and results: Patients with isolated BAV received information advising cardiac screening of their FDR. Referred and screened were 134 FDR of 54 adult index patients with isolated BAV (median 2 per index patient). FDR's mean age was 49. years (range 16-83. years) and 41% were male. They comprised 5 parents (3.7%), 52 siblings (39%) and 77 offspring (57%). Among these FDR, the prevalence of BAV was 6.0% (8 patients). In FDR without BAV, 10 (7.5%) had aortic dilatation. 'Familial BAV' was present in 9/54 families (17%). Conclusion: In a general hospital, screening of FDR of patients with isolated BAV resulted in a substantial yield of 13% new cases with BAV or aortic dilatation without BAV.

AB - Aim: To determine the prevalence of unidentified bicuspid aortic valve (BAV) or aortic dilatation (>. 40. mm) in first degree relatives (FDR) of patients with isolated BAV in a general hospital. Methods and results: Patients with isolated BAV received information advising cardiac screening of their FDR. Referred and screened were 134 FDR of 54 adult index patients with isolated BAV (median 2 per index patient). FDR's mean age was 49. years (range 16-83. years) and 41% were male. They comprised 5 parents (3.7%), 52 siblings (39%) and 77 offspring (57%). Among these FDR, the prevalence of BAV was 6.0% (8 patients). In FDR without BAV, 10 (7.5%) had aortic dilatation. 'Familial BAV' was present in 9/54 families (17%). Conclusion: In a general hospital, screening of FDR of patients with isolated BAV resulted in a substantial yield of 13% new cases with BAV or aortic dilatation without BAV.

KW - Bicuspid aortic valve

KW - Congenital heart disease

KW - Family screening

UR - https://www.scopus.com/pages/publications/85040131611

U2 - 10.1016/j.ijcard.2017.12.046

DO - 10.1016/j.ijcard.2017.12.046

M3 - Article

AN - SCOPUS:85040131611

SN - 0167-5273

VL - 255

SP - 55

EP - 58

JO - International Journal of Cardiology

JF - International Journal of Cardiology

ER -

Yield of family screening in patients with isolated bicuspid aortic valve in a general hospital

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Keywords

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