Prevalence of cardiovascular manifestations in patients with hypermobile Ehlers-Danlos syndrome at the University of Miami.
aortic root dilatation
hypermobile Ehlers-Danlos syndrome
mitral valve prolapse
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
06 2023
06 2023
Historique:
revised:
07
02
2023
received:
26
07
2022
accepted:
21
02
2023
medline:
11
5
2023
pubmed:
4
3
2023
entrez:
3
3
2023
Statut:
ppublish
Résumé
Cardiovascular system involvements have been frequently reported in hypermobile Ehlers-Danlos Syndrome (hEDS). Mitral valve prolapse (MVP) and aortic root dilatation are included in the 2017 international classification criteria for hEDS. Different studies have found conflicting results regarding the significance of cardiac involvement in hEDS patients. We conducted a retrospective review of cardiac involvement in patients diagnosed with hEDS based on the 2017 International diagnostic criteria to provide further evidence toward more defined and reliable diagnostic criteria and recommended cardiac surveillance. A total of 75 hEDS patients with at least one diagnostic cardiac evaluation were included in the study. The most common reported cardiovascular complaints were lightheadedness (80.6%), followed by palpitations (77.6%), fainting (44.8%), and chest pain (32.8%). Of the 62 echocardiogram reports, 57 (91.9%) showed trace/trivial to mild valvular insufficiency, and 13 (21%) had additional abnormalities such as grade I diastolic dysfunction, mild aortic sclerosis, and trivial or small pericardial effusion. Of the 60 electrocardiograms (ECG) reports, 39 (65%) were normal, and 21 (35%) reported minor abnormalities or normal variants. Even though many hEDS patients in our cohort experienced cardiac symptoms, the presence of a significant cardiac abnormality was very low.
Identifiants
pubmed: 36866504
doi: 10.1002/ajmg.a.63168
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1502-1507Informations de copyright
© 2023 Wiley Periodicals LLC.
Références
Arnold, A. C., Ng, J., & Raj, S. R. (2018). Postural tachycardia syndrome - diagnosis, physiology, and prognosis. Autonomic Neuroscience: Basic & Clinical, 215, 3-11. https://doi.org/10.1016/j.autneu.2018.02.005
Asher, S. B., Chen, R., & Kallish, S. (2018). Mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers-Danlos syndrome and related disorders. American Journal of Medical Genetics. Part A, 176(9), 1838-1844. https://doi.org/10.1002/ajmg.a.40364
Atzinger, C. L., Meyer, R. A., Khoury, P. R., Gao, Z., & Tinkle, B. T. (2011). Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome. The Journal of Pediatrics, 158, 826-30.e1.
Badano, L. P., Muraru, D., & Enriquez-Sarano, M. (2013). Assessment of functional tricuspid regurgitation. European Heart Journal, 34(25), 1875-1885. https://doi.org/10.1093/eurheartj/ehs474
Bryarly, M., Phillips, L. T., Fu, Q., Vernino, S., & Levine, B. D. (2019). Postural orthostatic tachycardia syndrome: JACC focus seminar. Journal of the American College of Cardiology, 73(10), 1207-1228. https://doi.org/10.1016/j.jacc.2018.11.059
Camerota, F., Castori, M., Celletti, C., Colotto, M., Amato, S., Colella, A., Curione, M., & Danese, C. (2014). Heart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. Clinical Rheumatology, 33(7), 981-987. https://doi.org/10.1007/s10067-014-2618-y
Cuspidi, C., Facchetti, R., Quarti-Trevano, F., Dell'Oro, R., Tadic, M., Mancia, G., & Grassi, G. (2022). Incident aortic root dilatation in the general population: Findings from the Pamela study. Journal of Hypertension, 40(3), 544-552. https://doi.org/10.1097/HJH.0000000000003047
De Wandele, I., Rombaut, L., Leybaert, L., Van de Borne, P., De Backer, T., Malfait, F., De Paepe, A., & Calders, P. (2014). Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-danlos syndrome. Seminars in Arthritis and Rheumatism, 44(1), 93-100. https://doi.org/10.1016/j.semarthrit.2013.12.006
Delling, F. N., & Vasan, R. S. (2014). Epidemiology and pathophysiology of mitral valve prolapse: New insights into disease progression, genetics, and molecular basis. Circulation, 129(21), 2158-2170. https://doi.org/10.1161/CIRCULATIONAHA.113.006702
Dolan, A. L., Mishra, M. B., Chambers, J. B., & Grahame, R. (1997). Clinical and echocardiographic survey of the Ehlers-Danlos syndrome. British Journal of Rheumatology., 36(4), 459-462. https://doi.org/10.1093/rheumatology/36.4.459
Freed, L. A., Levy, D., Levine, R. A., Larson, M. G., Evans, J. C., Fuller, D. L., Lehman, B., & Benjamin, E. J. (1999). Prevalence and clinical outcome of mitral-valve prolapse. The New England Journal of Medicine, 341(1), 1-7. https://doi.org/10.1056/NEJM199907013410101
Hakim, A., O'Callaghan, C., De Wandele, I., Stiles, L., Pocinki, A., & Rowe, P. (2017). Cardiovascular autonomic dysfunction in Ehlers-Danlos syndrome-hypermobile type. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 175(1), 168-174. https://doi.org/10.1002/ajmg.c.31543
Klein, A. L., Burstow, D. J., Tajik, A. J., Zachariah, P. K., Taliercio, C. P., Taylor, C. L., Bailey, K. R., & Seward, J. B. (1990). Age-related prevalence of valvular regurgitation in normal subjects: A comprehensive color flow examination of 118 volunteers. Journal of the American Society of Echocardiography: Official Publication of the American Society of Echocardiography, 3(1), 54-63. https://doi.org/10.1016/s0894-7317(14)80299-x
Kozanoglu, E., Coskun Benlidayi, I., Eker Akilli, R., & Tasal, A. (2015). Is there any link between joint hypermobility and mitral valve prolapse in patients with fibromyalgia syndrome? Clinical Rheumatology, 35(4), 1041-1044. https://doi.org/10.1007/s10067-015-3024-9
Lang, R. M., Badano, L. P., Mor-Avi, V., Afilalo, J., Armstrong, A., Ernande, L., Flachskampf, F. A., Foster, E., Goldstein, S. A., Kuznetsova, T., Lancellotti, P., Muraru, D., Picard, M. H., Rietzschel, E. R., Rudski, L., Spencer, K. T., Tsang, W., & Voigt, J. U. (2015). Recommendations for cardiac chamber quantification by echocardiography in adults: An update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. Journal of the American Society of Echocardiography: Official Publication of the American Society of Echocardiography, 28(1), 1-39.e14. https://doi.org/10.1016/j.echo.2014.10.003
Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., Castori, M., Cohen, H., Colombi, M., Demirdas, S., De Backer, J., De Paepe, A., Fournel-Gigleux, S., Frank, M., Ghali, N., … Tinkle, B. (2017). The 2017 international classification of the Ehlers-Danlos syndromes. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 175(1), 8-26. https://doi.org/10.1002/ajmg.c.31552
McDonnell, N. B., Gorman, B. L., Mandel, K. W., Schurman, S. H., Assanah-Carroll, C., Mayer, S. A., Najjar, S. S., & Francomano, C. A. (2006). Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes. American Journal of Medical Genetics Part A., 140A(2), 129-136. https://doi.org/10.1002/ajmg.a.31035
Miglis, M. G., Schultz, B., & Muppidi, S. (2017). Postural tachycardia in hypermobile Ehlers-Danlos syndrome: A distinct subtype? Autonomic Neuroscience, 208, 146-149. https://doi.org/10.1016/j.autneu.2017.10.001
Miller, A. J., Stiles, L. E., Sheehan, T., Bascom, R., Levy, H. P., Francomano, C. A., & Arnold, A. C. (2020). Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome. Autonomic Neuroscience, 224, 102637. https://doi.org/10.1016/j.autneu.2020.102637
Paige, S. L., Lechich, K. M., Tierney, E. S., & Collins, R. T. (2020). Cardiac involvement in classical or hypermobile Ehlers-danlos syndrome is uncommon. Genetics in Medicine, 22(10), 1583-1588. https://doi.org/10.1038/s41436-020-0856-8
Rayner, J., Banerjee, R., Holloway, C., et al. (2018). The relative contribution of metabolic and structural abnormalities to diastolic dysfunction in obesity. International Journal of Obesity, 42, 441-447. https://doi.org/10.1038/ijo.2017.239
Ritter, A., Atzinger, C., Hays, B., James, J., Shikany, A., Neilson, D., Martin, L., & Weaver, K. N. (2017). Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers-Danlos syndrome cohort. American Journal of Medical Genetics. Part A, 173(6), 1467-1472. https://doi.org/10.1002/ajmg.a.38243
Sahn, D. J., & Maciel, B. C. (1988). Physiological valvular regurgitation. Doppler echocardiography and the potential for iatrogenic heart disease. Circulation, 78(4), 1075-1077. https://doi.org/10.1161/01.cir.78.4.1075
Sattur, S., Bates, S., & Movahed, M. R. (2010). Prevalence of mitral valve prolapse and associated valvular regurgitations in healthy teenagers undergoing screening echocardiography. Experimental and Clinical Cardiology, 15(1), e13-e15.
Singh, J. P., Evans, J. C., Levy, D., Larson, M. G., Freed, L. A., Fuller, D. L., Lehman, B., & Benjamin, E. J. (1999). Prevalence and clinical determinants of mitral, tricuspid, and aortic regurgitation (the Framingham heart study). The American Journal of Cardiology, 83(6), 897-902. https://doi.org/10.1016/s0002-9149(98)01064-9
Strait, J. B., & Lakatta, E. G. (2012). Aging-associated cardiovascular changes and their relationship to heart failure. Heart Failure Clinics, 8(1), 143-164. https://doi.org/10.1016/j.hfc.2011.08.011
Tinkle, B., Castori, M., Berglund, B., Cohen, H., Grahame, R., Kazkaz, H., & Levy, H. (2017a). Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. American journal of medical genetics part C: Seminars in medical. Genetics, 175(1), 48-69. https://doi.org/10.1002/ajmg.c.31538
Tinkle, B., Castori, M., Berglund, B., Cohen, H., Grahame, R., Kazkaz, H., & Levy, H. (2017b). Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 175(1), 48-69. https://doi.org/10.1002/ajmg.c.31538
Topilsky, Y., Nkomo, V. T., Vatury, O., Michelena, H. I., Letourneau, T., Suri, R. M., Pislaru, S., Park, S., Mahoney, D. W., Biner, S., & Enriquez-Sarano, M. (2014). Clinical outcome of isolated tricuspid regurgitation. JACC: Cardiovascular Imaging, 7(12), 1185-1194. https://doi.org/10.1016/j.jcmg.2014.07.018
Wenstrup, R. J., Meyer, R. A., Lyle, J. S., Hoechstetter, L., Rose, P. S., Levy, H. P., & Francomano, C. A. (2002). Prevalence of aortic root dilation in the Ehlers-danlos syndrome. Genetics in Medicine, 4(3), 112-117. https://doi.org/10.1097/00125817-200205000-00003