Bilateral Cranial Cruciate Ligament Rupture Treatment in a Dog Affected by Classical Ehlers-Danlos Syndrome
Vizcaíno-Revés, Núria (Universitat Autònoma de Barcelona. Fundació Hospital Clínic Veterinari)
Rietmann, Stefan J. (University of Bern)
Domínguez, Elisabet (Universitat Autònoma de Barcelona. Fundació Hospital Clínic Veterinari)
Fondevila, Dolors (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals)
Jagannathan, Vidhya (University of Bern)
Leeb, Tosso (University of Bern)
Bardagí i Admetlla, Mar (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals)

Data:	2025
Resum:	We report an 11-month-old Maltese dog that was diagnosed with cranial cruciate rupture. The dog also had Ehlers-Danlos syndrome, a hereditary disease that causes weakness of connective tissues. Genetic analysis of the dog revealed a new heterozygous missense variant in the COL5A1 gene encoding the collagen type V alpha 1 chain. An increased risk for cranial cruciate ligament rupture has been reported in human patients with Ehlers-Danlos Syndrome but not in dogs. We provide the first report of such an event in dogs and subsequent stifle stabilization. Ehlers-Danlos syndrome (EDS) is a congenital disorder affecting connective tissue. Patients diagnosed with EDS may present with joint instability, and in human medicine, an increased risk of cranial cruciate rupture has been described. A few therapeutic options for these patients have been described, with no evident superiority of one technique due to small study groups. Cranial cruciate rupture has never been described in a dog with EDS. This is a case report of an 11-month-old Maltese diagnosed with bilateral cruciate ligament rupture and classical EDS with a previously undescribed heterozygous COL5A1 missense variant that underwent stifle stabilization.
Ajuts:	the Swiss National Science Foundation 310030_200354
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Canis lupus familiaris ; Surgery ; Orthopedics ; Dermatology ; Genetics ; Collagen ; Skin ; Whole genome sequencing ; Hereditary ; Inherited
Publicat a:	Veterinary sciences, Vol. 12 (December 2025) , art. 1162, ISSN 2306-7381

DOI: 10.3390/vetsci12121162
PMID: 41472142

9 p, 8.4 MB

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