Bilateral Cranial Cruciate Ligament Rupture Treatment in a Dog Affected by Classical Ehlers-Danlos Syndrome

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 c...

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Detalhes bibliográficos
Autores: Vizcaíno-Revés, Núria, Rietmann, Stefan J., Domínguez, Elisabet|||0000-0002-1768-1194, Fondevila, Dolors|||0000-0001-7443-0175, Jagannathan, Vidhya, Leeb, Tosso|||0000-0003-0553-4880, Bardagí i Admetlla, Mar
Formato: artículo
Fecha de publicación:2025
País:España
Recursos:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:325790
Acesso em linha:https://ddd.uab.cat/record/325790
https://dx.doi.org/urn:doi:10.3390/vetsci12121162
Access Level:acceso abierto
Palavra-chave:Canis lupus familiaris
Surgery
Orthopedics
Dermatology
Genetics
Collagen
Skin
Whole genome sequencing
Hereditary
Inherited
Descrição
Resumo: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.