Gastrointestinal Manifestations of Marfan Syndrome

Abstract

Symptoms attributed to the gastrointestinal manifestations of multisystem disorders play an important role in the long-term management of these conditions. Gastrointestinal complications of a variety of connective tissue disorders have been studied and there is an increased interest in the incidence and prevalence of these symptoms. Descriptions of the occurrence of gastrointestinal complications in Marfan syndrome have appeared infrequently in the medical literature. In this review article we focus on both structural and functional gastrointestinal pathology that may occur in patients with Marfan syndrome.

Primary midgut volvulus in a patient with Marfan syndrome

“…The mutation in the fibrillin gene results in weakened connective tissues throughout the body, leading to varying multisystem dysfunction for those with Marfan syndrome [2, 6]. While Marfan syndrome causes abnormal findings manifest in many systems, gastrointestinal presentations are infrequent and there are only a few cases reported of differing diagnoses, most of the cases presenting with abnormal anatomy of various segments of the gastrointestinal system such as diverticulosis coli, hernias, diveriticula, atresias, malrotations and sigmoid volvulus [1, 3, 7–9].…”

“…Our patient’s history was significant for extensive cardiovascular involvement including mechanical aortic valve and mitral valve replacement, but no previous gastrointestinal involvement was noted. Upon review of the literature, there have been a few reported cases of small bowel diverticulosis, especially of the jejunal area, and a few reported cases of sigmoid volvulus in conjunction with a diagnosis of Marfan syndrome [3, 7, 8]. Jejunal volvulus reported was in a patient with no known history of Marfan syndrome and was likely due to massive jejunal diverticula from unknown cause ranging from 3.5 to 8 cm [7].…”

“…Marfan syndrome can encompass an array of anatomical abnormalities most often involving soft tissue dysmorphia and cardiovascular pathology, but rarely includes gastrointestinal pathology [1–3]. Midgut volvulus is torsion of small bowel along the axis of the superior mesenteric artery in a compromising manner that endangers the viability and future function of the twisted segment if not intervened immediately [1–3]. While secondary small bowel volvulus is most commonly due to anatomical abnormalities like intestinal malrotation and diverticulum [1]; primary midgut volvulus is unique in location and has no known underlying etiology.…”

“…Even though the etiology and mechanism of mesenteric rotation in primary midgut volvulus is not fully understood, it is widely agreed that unusually hypermobile bowel rotates around mesentery in absence of adhesions or congenital abnormalities [4]. The exact incidence and prevalence of gastrointestinal complications of Marfan syndrome is not known [3]. Regardless of etiology, the clinical presentation of midgut volvulus is the same.…”