Characteristic Morphologies of the Bicuspid Aortic Valve in Patients with Genetic Syndromes
| Autor: | Jared Palfreeman, Donald J. Hagler, Talha Niaz, Joseph T. Poterucha, Cecilia Craviari, Timothy M. Olson, Frank Cetta, Thomas Nienaber, Jonathan N. Johnson |
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| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Aortic valve medicine.medical_specialty Adolescent Shone Syndrome Heart Valve Diseases 030204 cardiovascular system & hematology Young Adult 03 medical and health sciences 0302 clinical medicine Bicuspid aortic valve Bicuspid Aortic Valve Disease Internal medicine DiGeorge syndrome medicine.artery Turner syndrome Ascending aorta medicine Humans Radiology Nuclear Medicine and imaging Child Retrospective Studies business.industry Genetic Diseases Inborn Syndrome medicine.disease Stenosis 030104 developmental biology medicine.anatomical_structure Echocardiography Aortic Valve Child Preschool cardiovascular system Cardiology Cusp (anatomy) Female Cardiology and Cardiovascular Medicine business |
| Zdroj: | Journal of the American Society of Echocardiography. 31:194-200 |
| ISSN: | 0894-7317 |
| DOI: | 10.1016/j.echo.2017.10.008 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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