Luc Cozijnsen1, Hester J van der Zaag-Loonen2, Richard L Braam3, Mirjam Bakker-de Boo3, Jan G Post4, Berto J Bouma5, Barbara J M Mulder5. 1. Department of Cardiology, Gelre Hospital, Apeldoorn, Netherlands. Electronic address: l.cozijnsen@gelre.nl. 2. Department of Clinical Epidemiology, Gelre Hospital, Apeldoorn, Netherlands. 3. Department of Cardiology, Gelre Hospital, Apeldoorn, Netherlands. 4. Department of Genetics, University Medical Centre, Utrecht, Netherlands. 5. Department of Cardiology, Academic Medical Centre, Amsterdam, Netherlands.
Abstract
AIM: To determine the prevalence of unidentified bicuspid aortic valve (BAV) or aortic dilatation (>40mm) 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 49years (range 16-83years) 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.
AIM: To determine the prevalence of unidentified bicuspid aortic valve (BAV) or aortic dilatation (>40mm) 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 49years (range 16-83years) 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.
Authors: Katalin Szöcs; Betül Toprak; Gerhard Schön; Meike Rybczynski; Tatjana Brinken; Adrian Mahlmann; Evaldas Girdauskas; Stefan Blankenberg; Yskert von Kodolitsch Journal: Cardiovasc Diagn Ther Date: 2022-08
Authors: L Cozijnsen; R L Braam; M Bakker-de Boo; A M Otten; J G Post; T Schermer; B J Bouma; B J M Mulder Journal: Neth Heart J Date: 2021-09-02 Impact factor: 2.380