Highlights the unique presentation and likely genetic basis of thoracic aortic arch rupture in Friesian horses, requiring adapted echocardiographic and post-mortem techniques for identification.
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Informs breed-specific diagnostics in Friesian horses; leaves open genetic validation of extracellular matrix defects.
The aorta can rupture at the aortic root or aortic arch. In most breeds, the aortic root is the likely site and rupture leads to aortocardiac fistula with communication between the aorta and the right atrium, right ventricle and/or the interventricular septum. There is a high prevalence of aortic rupture in young Friesian horses and rupture occurs at the aortic arch with pseudoaneurysm and potentially aortopulmonary fistulation. Echocardiographic and post-mortem techniques must be adapted to identify aortic arch rupture that is not generally identified with standard approaches. Given the narrow genetic base of the Friesian breed and the significant differences found in extracellular matrix composition and metabolism between Friesians and Warmbloods, genetic factors are likely to contribute to the condition in the Friesian breed.
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Ploeg et al. (2016) studied this question.
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