Congenital diaphragmatic hernia with concurrent aplasia of the pericardium in a foal.
Authors: Tăbăran Alexandru-Flaviu, Nagy Andras Laszlo, Cătoi Cornel, Morar Iancu, Tăbăran Alexandra, Mihaiu Marian, Bolfa Pompei
Journal: BMC veterinary research
Summary
# Editorial Summary A Friesian foal was presented for necropsy following stillbirth, revealing a rare combination of developmental defects: a large diaphragmatic hernia (approximately 20 × 15 cm) in the left lumbocostal triangle concurrent with complete aplasia of the left pericardium—a condition previously undocumented in horses. The defect allowed abdominal viscera including intestinal loops, spleen and partial liver to herniate into the thoracic cavity, with abdominal structures directly contacting and compressing the heart due to absent pericardial containment; the left lung was severely hypoplastic (approximately one-fifth normal size), and herniated liver tissue showed chronic passive congestion with marked fibrosis and vascular changes. Although congenital diaphragmatic and pericardial abnormalities occur rarely in domestic species and have been reported primarily in dogs, this case represents the first documented pericardial aplasia in equine medicine and the first concurrent presentation of both defects in a horse. Whilst the severely compromised cardiothoracic anatomy in this case was incompatible with life, equine practitioners should remain alert to the possibility of combined thoracic and abdominal malformations in foals presenting with respiratory distress, poor performance, or unexplained cardiac signs, particularly when external examination appears normal—necropsy findings in such cases may provide valuable diagnostic clarity for breeders and inform genetic counselling decisions in affected bloodlines.
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Practical Takeaways
- •Pericardial aplasia has now been documented in horses and should be considered in differential diagnoses for congenital thoracic abnormalities in foals
- •Concurrent diaphragmatic and pericardial defects may not be apparent on external examination and require necropsy for definitive diagnosis
- •Congenital diaphragmatic hernias in foals are incompatible with life and warrant detailed post-mortem examination to characterize the extent of organ involvement and secondary changes
Key Findings
- •A stillborn Friesian foal presented with a large oval diaphragmatic defect (20×15 cm) in the left-dorsal side allowing visceral translocation into the thorax
- •Complete absence of the left pericardium with only a semi-transparent strip remaining on the right side of the heart
- •Left lung severely hypoplastic at approximately one-fifth the size of the right lung
- •Herniated liver lobes showed chronic passive congestion, telangiectasia, and medial hypertrophy of blood vessels; this is the first reported case of pericardial aplasia in horses