Rare complication of a type IV paraoesophageal hiatal hernia in a Marfan syndrome patient

BMJ Case Rep. 2021 Apr 8;14(4):e239641. doi: 10.1136/bcr-2020-239641.


A 77-year-old female patient with Marfan syndrome presented with a 1-week history of worsening malaise and poor appetite. This was associated with a dramatic unintentional loss of weight as well as shortness of breath worsened by exertion. She has significant medical histories of a hiatal hernia and chronic type B aortic dissection. CT scan of the chest was able to confirm a type IV paraoesophageal hiatal hernia compressing on the lower lobe of her left lung without any progression of her aortic dissection. As surgical intervention was contraindicated in light of her advanced age and comorbidities, she was managed conservatively with a clinically satisfied outcome in the short term. Her long-term prognosis, however, is still poor with a high mortality of 1 and 5 years.

Keywords: connective tissue disease; gastroenterology; stomach and duodenum; vascular surgery.