Ehlers-Danlos Syndrome and the Cardiovascular System: From Diagnosis to Treatment

Ehler’s-Danlos syndrome (EDS) is a group of 13 internationally classified and genetically diverse inherited disorders that affect your skin, joints, and blood vessel walls and other organs (Rashed et al., 2022; Zschocke et al., 2024). Currently, all 13 recognized types of EDS that are inherited in an autosomal dominant or autosomal recessive pattern (Zschocke et al., 2024). Here, I focus predominantly on vascular EDS (EDSv) by discussing its prevalence, the specific inheritance pattern, associated genes and affected proteins, features that characterize it, how it can affect the cardiovascular system, and ultimately, the treatment of its symptoms. I chose this topic because I have EDSh-hypermobile type. EDSh has a lot of similar yet less severe symptoms compared to EDSv. I’ve heard that EDSv is the most serious type, and because I didn’t know much about it other than what I’ve heard from family members who have conducted research, I found myself interested in learning beyond our course objective. This scientific inquiry delves into course objective 42 which states, “Explain the Structure and Function of the Heart” by examining how EDSv affects the cardiovascular system.

EDSv is relatively rare, even among EDS, with a prevalence of between 1/50,000 to 1/200,000 people (Buso et al., 2024; Percul et al., 2023). In over 90% of cases, EDS is inherited in a heterozygous manner, meaning that only one copy of the is inherited from a parent at a given locus (Zschocke et al., 2024). EDSv is rare and inherited in an autosomal dominant manner, meaning there is a 50% chance of inheriting EDS from an affected parent (Buso et al. 2024). A mutation to the collagen type III alpha chain (COL3A1) gene is associated with EDSv. These mutations result in the improper coding of the pro-alpha 1 chain of type III procollagen, found as a fibrillary protein comprising hollow organs, blood vessel walls (Percul et al., 2023; Buso et al., 2024). Patients may also commonly display a thin nose and lips, hollow cheeks, prominent eyes, lobeless ears, translucent skin with prominent vascular patterns, acrogeria (premature aging of hands and feet), easy bruising, atrophic scars, and hypermobility in small joints of the body (Buso et al., 2024). Diagnosis is based on the presence of these features, by familial relation to someone with EDS, and is ultimately confirmed through molecular genetic testing (Buso et al., 2024).

 While EDS is widely characterized by overly flexible joints and stretchy, fragile skin, people with certain types of EDS, such as vascular EDS (EDSv) have an increased likelihood of the walls of certain tissues that gene COLA3 encodes for, like blood vessels, intestines, or the uterus to burst, resulting in a litany of negative consequences and high mortality rates (Debacker et al., 2019; Buso et al., 2024; Zschocke et al., 2024).  Common consequences of complications from EDSv in the cardiovascular system include arterial aneurysm, arterial dissection, arterial rupture, bowel and gravid uterus rupture, the spontaneous presence of air or gas in the pleural cavity, or the early onset of varicose veins (Rasheed et al., 2023; Percul et al., 2023; Buso et al., 2024). Because of the devastating complications that can arise from EDSv, the average life expectancy for someone with this disease in only 48-51 years (De Backer et al., 2019; Buso et al., 2024).

Treatment for Ehler’s-Danlos syndrome may include physical therapy to lessen symptoms, medications like beta blockers (metoprolol, propranolol, and celiprolol), angiotensin receptor blockers (ARBs) (losartan and irbesartan) to reduce heart rate and keep your blood pressure low, reducing the stress on blood vessels, and surgery when needed to correct complications (Xu et al., 2025; Debacker et al., 2019). Novel emerging investigations utilizing state-of-the-art technologies are informing scientists about the mechanisms that make way for novel targeted therapies for multiple EDS subtypes (Xu et al., 2025). One example of new science affecting a different EDS subtype is where the inhibition of integrin signaling or injection of wild-type fibroblasts into Col5a1CKO mice exhibited improved poor wound healing, a distinguishing characteristic of cEDS (Xu et al., 2025). Inhibition of miR-29b-3p in vEDS fibroblasts has also exhibited increased integrity of the extracellular matrix, suggesting it has a potential therapeutic role for inhibiting miRNA (Xu et al., 2025). 

 Ultimately, EDSv has the potential to significantly impact one’s life by majorly reducing one’s lifespan and quality of life by undergoing frequent surgeries and suffering complications that arise from them and daily life with compromised tissues. Nevertheless, catching chronic cases and managing the symptoms of EDSv early and undergoing intestinal and cardiovascular rehabilitation is often effective in reducing these symptoms and complications, improving the general outcomes for patients suffering from EDSv (Percul et al., 2023).

Referenced Works

Buso, G., Corvini, F., Fusco, E. M., Messina, M., Cherubini, F., Laera, N., Paini, A., Salvetti, M., De Ciuceis, C., Ritelli, M., Venturini, M., Chiarelli, N., Colombi, M., & Muiesan, M. L. (2024). Current evidence and future perspectives in the medical management of vascular ehlers–danlos syndrome: Focus on vascular prevention. Journal of Clinical Medicine, 13(14), 4255. https://doi.org/10.3390/jcm13144255

De Backer, J., & De Backer, T. (2019). Vascular ehlers-danlos syndrome management. Journal of the American College of Cardiology, 73(15), 1958–1960. https://doi.org/10.1016/j.jacc.2019.02.025

Percul, C., Pintos, S., Busoni, V., Sanchez Clariá, R., & Lobos, P. (2023). 113: Complications of vascular ehlers-danlos syndrome: management by an intestinal failure multidisciplinary team. Transplantation, 107(7S), 65–65. https://doi.org/10.1097/01.tp.0000945908.46450.a9

Rashed, E. R., Ruiz Maya, T., Black, J., Fettig, V., Kadian-Dodov, D., Olin, J. W., Mehta, L., Gelb, B. D., & Kontorovich, A. R. (2022). Cardiovascular manifestations of hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders. Vascular Medicine (London, England), 27(3), 283–289. https://doi.org/10.1177/1358863X211067566

Xu, K., Li, G., Zhang, T. J., & Wu, N. (2025). Shaping the future of care for patients with Ehlers-Danlos syndromes: From multidisciplinary management to precision medicine. Orphanet Journal of Rare Diseases, 20(1), 98. https://doi.org/10.1186/s13023-025-03615-5

Zschocke, J., Demirdas, S., & van Dijk, F. S. (n.d.). Genetic diagnosis of the Ehlers-Danlos syndromes. Medizinische Genetik, 36(4), 235–245. https://doi.org/10.1515/medgen-2024-2061