Characteristic morphologies of the bicuspid aortic valve in patients with genetic syndromes

Niaz, Talha; Poterucha, Joseph T.; Olson, Timothy M.; Johnson, Jonathan N.; Craviari, Cecilia; Nienaber, Thomas; Palfreeman, Jared; Cetta, Frank; Hagler, Donald J.

doi:10.1016/j.echo.2017.10.008

Cited by 49Aortic Disease and Treatment ApproachesCardiac Valve Diseases and TreatmentsConnective tissue disorders research

Characteristic morphologies of the bicuspid aortic valve in patients with genetic syndromes

Niaz, Talha, Poterucha, Joseph T., Olson, Timothy M., Johnson, Jonathan N., Craviari, Cecilia, Nienaber, Thomas, Palfreeman, Jared, Cetta, Frank +1 more·2018·Journal of the American Society of Echocardiography

DOI 10.1016/j.echo.2017.10.008

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Abstract

Background In patients with bicuspid aortic valve (BAV), complications including progressive aortic stenosis and aortic dilatation develop over time. The morphology of cusp fusion is one of the determinants of the type and severity of these complications. We present the association of morphology of cusp fusion in BAV patients with distinctive genetic syndromes.Methods The Mayo Clinic echocardiography database was retrospectively reviewed to identify patients (age ≤ 22 years) diagnosed with BAV from 1990 to 2016. Cusp fusion morphology was determined from the echocardiographic studies, while coexisting cardiac defects and genetic syndromes were determined from chart review.Results A total of 1,037 patients with BAV were identified: 550 (53%) had an isolated BAV, 299 (29%) had BAV and a coexisting congenital heart defect, and 188 (18%) had BAV and a coexisting genetic syndrome or disorder. There were no differences in distribution of morphology across the three groups. However, right-noncoronary (RN) cusp fusion was the predominant morphology associated with Down syndrome (P = .002) and right-left (RL) cusp fusion was the predominant morphology associated with Turner syndrome (P = .02), DiGeorge syndrome (P = .02), and Shone syndrome (P = .0007), when compared with valve morphology in patients with isolated BAV. Isolated BAV patients with RN cusp fusion had larger ascending aorta diameter (P = .001) and higher number of patients with ≥ moderate aortic regurgitation (P = .02), while those with RL cusp fusion had larger sinus of Valsalva diameter (P = .0006).Conclusions Morphological subtypes of BAV are associated with different genetic syndromes, suggesting distinct perturbations of developmental pathways in aortic valve malformation.

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The prevalence of type 1 BAV morphology may be increased in individuals with TS.
“The prevalence of type 1 BAV morphology may be increased in individuals with TS.405”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [405]

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Incidence, morphology, and progression of bicuspid aortic valve in pediatric and young adult subjects with coexisting congenital heart defects
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Association Between Bicuspid Aortic Valve and Ascending Aorta Morphology
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Authors: Niaz, T., Poterucha, J. T., Olson, T. M., Johnson, J. N., Craviari, C., Nienaber, T., Palfreeman, J., Cetta, F., & Hagler, D. J.
Affiliations: Mayo Clinic (US)
Corresponding author: Hagler, Donald J.
ORCID: Niaz, Talha
Olson, Timothy M.
Johnson, Jonathan N.
Craviari, Cecilia
Nienaber, Thomas
Cetta, Frank
Hagler, Donald J.
Venue: Journal of the American Society of Echocardiography
Publisher: Elsevier BV
Published: 2018-02
Volume: 31
Issue: 2
Pages: 194-200
ISSN: 0894-7317 (ISSN-L)
DOI: 10.1016/j.echo.2017.10.008
OpenAlex: W2769972255
Cited by: 49
References: 29
Citations by year: 2026: 2 · 2025: 4 · 2024: 8 · 2023: 4 · 2022: 7 · 2021: 13 · 2020: 6 · 2019: 1 · 2018: 4
FWCI: 2.50
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
Locations: Journal of the American Society of Echocardiography (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Aortic Disease and Treatment Approaches
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac Valve Diseases and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Keywords: bicuspid aortic valve, genetic syndromes, Down syndrome, Turner syndrome, 22q11.2 deletion syndrome, Shone syndrome, congenital heart disease, aortic stenosis, aortic regurgitation, aortic dilatation, aortic valve malformation
MeSH terms: Bicuspid Aortic Valve Disease, Adolescent, Aortic Valve, Child, Child, Preschool, Echocardiography, Female, Heart Valve Diseases, Humans, Male, Retrospective Studies, Syndrome, Genetic Diseases, Inborn, Young Adult

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Characteristic morphologies of the bicuspid aortic valve in patients with genetic syndromes

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