Aortic connective tissue abnormalities resembling Marfan syndrome in goats

Case presentation

Recently, three cases of sudden death in seemingly healthy adult dairy goats revealed a hemoabdomen due to rupture of the cranial abdominal aorta or cranial mesenteric artery at post mortem examination.

M&M

Routine post mortem examination. Histopathological examination of cranial abdominal aorta wall tissue using Lawson van Gieson stain for elastic fibers.

Results

At gross post mortem hemoabdomen due to rupture of the cranial abdominal aorta or cranial mesenteric artery was observed. Histologically, there was evidence of impaired vessel wall architecture with loss and fragmentation of elastin fibres, proliferation of the lamina intima and fibrosis.

Discussion

Similar microscopic lesions have been described in Marfan syndrome. Marfan syndrome is a genetic (autosomal dominant) disorder that affects the connective tissue, named after French paediatrician Antoine Marfan, who first described it in 1896 in children. Clinical manifestations involve the cardiovascular, ocular and skeletal system. It is caused by mutations in the gene encoding fibrillin 1, the major component of extracellular microfibrils that support elastin fibre deposition [1]. Marfanlike syndrome has since been suggested or described in dogs, cattle [2], sheep, and horses. Multiple connective tissue disorders in man and animals are caused by heritable genetic defects and may share similar features.

Conclusion

It cannot be ruled out that a genetic defect plays a role in the development of the vascular wall lesions in these dairy goats. The dairy goat population in the Netherlands share a small genetic background. Annually, dairy goats with the anamnesis of sudden death are submitted for post-mortem examination, a small number of these cases present with vascular wall rupture. Occasionally, rupture of the uterine artery is observed in gravid goats, these cases did not show similar vessel wall lesions in these cases. There is a need for further research including larger numbers of cases, further typing of vessel wall lesions as well as genetic typing. To the best of our knowledge, this is the first description of morphologic connective tissue abnormalities resembling features of Marfan syndrome in goats.

Karianne Lievaart-Peterson1*, Liesbeth Harkema1, René van den Brom1, Reinie Dijkman1, Eveline Dijkstra1, Mark van der Heijden2, and Piet Vellema1 1 Royal GD, Arnsbergstraat 7, 7418 EZ Deventer, the Netherlands *Presenting author 2 Universitaire Landbouwhuisdierenpraktijk, Harmelen, the Netherlands

Figure 1a+b Histopathology of normal aorta wall tissue and aortic wall tissue from an adult dairy goat with hemoabdomen due to rupture of the cranial abdominal aorta

Normal aorta with numerous elastic fibers (black stained fine fibers) and a continuous internal elastic lamina (superficial black line). Lawson van Gieson stain, 20x magnification.

Cranial abdominal aorta from a goat with aortic rupture and vessel wall abnormalities. There’s proliferation of the intima, the internal elastic lamina (black) is disrupted and coiled and the amount of fine elastic fibers is reduced. Lawson van Gieson stain, 20x magnification.