Abdominal visceral findings in patients with Marfan syndrome

Abstract

Purpose: Marfan syndrome is an autosomal dominant disorder historically defined by well-characterized features in the cardiovascular, ocular, and skeletal systems. To date, there have been no reports concerning abdominal visceral findings in this disorder. The purpose of this study was to determine the prevalence of abdominal visceral findings in patients with Marfan syndrome. Methods: Computed tomography or magnetic resonance studies of 69 patients with Marfan syndrome and an age-and sex-matched cohort of control subjects were reviewed. The presence of abdominal visceral findings was noted. Chi-square and Student t tests were used to determine significance of differences between the patient and control groups. This retrospective study was approved by the local institutional review board and determined to be exempt from Health Insurance Portability and Accountability Act reporting requirements. Results: Renal cysts were present in 41 Marfan patients (59.4%) versus 21 control subjects (30.4%), P ϭ 0.001. The average number of renal cysts was greater in Marfan patients than controls (2.4 vs. 0.9, P ϭ 0.005). Hepatic cysts were present in 24 Marfan patients (34.8%) versus 12 control patients (17.3%), P ϭ 0.02. The average number of hepatic cysts was also greater in Marfan patients than controls (0.9 vs. 0.3, P ϭ 0.027). Cholelithiasis was present in 12 Marfan patients (18.1%) versus one control patient (1.5%), P Ͻ 0.001. Conclusions: Marfan syndrome patients have liver and renal cysts more often, in increased number, and at an earlier age than controls, in addition to an increased prevalence of cholelithiasis. Further study will be needed to relate these findings to recent developments concerning the underlying molecular genetics of this disorder.Genet Med 2007:9(4):208-212.

A Pkd1-Fbn1 Genetic Interaction Implicates TGF-β Signaling in the Pathogenesis of Vascular Complications in Autosomal Dominant Polycystic Kidney Disease

“…Interestingly, a retrospective study of patients with MFS demonstrated an increased incidence of renal and hepatic cysts compared with an age/sex-matched control population. 46 In this work, we used the Cre lox system to efficiently delete Pkd1 in the aortic wall of mice harboring a Pkd1 conditional allele. Over a 6-month period, this resulted in mild but reproducible degeneration in elastic fiber morphology in the proximal ascending aorta, similar to what has been observed in Fbn1 mutant mice.…”

Medical Management of Marfan Syndrome

“…Manifestations occur in many other tissues and organs and are increasingly being recognized as patients survive to older ages. 1 An accurate incidence has been impossible to define because of the age dependency of many of the features, the common occurrence of some features in the general population (such as scoliosis; lean, tall habitus; mitral valve prolapse; myopia), and shifting diagnostic criteria. Several conditions that were once classified as Marfan (eg, homocystinuria, Loeys-Dietz syndrome) are recognized now as clearly distinct.…”

Marfan syndrome and symptomatic sacral cyst: Report of two cases

“…1-3,5,6 Typically, Marfan symptoms do not manifest before adolescence or even adulthood, 7,8 and phenotypes tend to be more pronounced in older patients. 9 Dural ectasia, although very common in Marfan syndrome and other specific disorders like Ehlers-Danlos syndrome, neurofibromatosis, or ankylosing spondylitis, 10,11 is often asymptomatic 12,13 and is an incidental finding in many cases, although newer studies suggest a higher incidence of symptoms. 14 Patients with severe dural ectasia, as well as lumbosacral meningoceles, however, may present with a diverse set of symptoms.…”