Abdominal visceral findings in patients with Marfan syndrome

Genetics in Medicine

Volumn 9, Issue 4, 2007, Pages 208-212

  Chow, Kira ^a   Pyeritz, Reed E ^a,b   Litt, Harold I ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Cholelithiasis; Hepatic cysts; Marfan syndrome; Renal cysts

Indexed keywords

ABDOMEN; ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; ARTICLE; CHI SQUARE TEST; CHOLELITHIASIS; COHORT ANALYSIS; COMPARATIVE STUDY; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; FEMALE; HEALTH INSURANCE; HUMAN; KIDNEY CYST; LIVER CYST; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PREVALENCE; RETROSPECTIVE STUDY; SEX RATIO; STATISTICAL SIGNIFICANCE; STUDENT T TEST; VISCERA;

ADULT; CHOLELITHIASIS; COHORT STUDIES; CYSTS; FEMALE; HUMANS; KIDNEY DISEASES, CYSTIC; LIVER DISEASES; MAGNETIC RESONANCE IMAGING; MALE; MARFAN SYNDROME; MIDDLE AGED; PREVALENCE; RADIOGRAPHY, ABDOMINAL; TOMOGRAPHY, X-RAY COMPUTED;

EID: 34247216751     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3180423cb3     Document Type: Article

References (20)

1. Pyeritz RE. Marfan syndrome and other disorders of fibrillin. In: Rimoin DL, Conner JM, Pyeritz RE, Korf B, editors. Principles and practice of medical genetics, 5th ed. Edinburgh: Churchill Livingstone, 2007; 3579-3624, in press.
2. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996;62:417-426.
3. Murdoch JL, Walker BA, Halpern BL, Kuzma JW, et al. Life expectancy and causes of death in the Marfan syndrome. N Engl J Med 1972;286:804-808.
4. Silverman DI, Burton KJ, Gray J, et al. Life expectancy in the Marfan syndrome. Am J Cardiol 1995;75:157-160.
5. Pyeritz RE, Fishman EK, Bernhardt BA, Siegelman SS. Dural ectasia is a common feature of the Marfan syndrome. Am J Hum Genet 1988;43:726-732.
6. Biermann CW, Rutishauser G. Polycystic kidneys associated with Marfan syndrome in an adult. Scand J Urol Nephrol 1994;28:295-296.
7. Hateboer N, Buchalter M, Davies SJ, Lazarou LP, et al. Co-occurrence of autosomal dominant polycystic kidney disease and Marfan syndrome in a kindred. Am J Kidney Dis 2000;35:753-760.
8. Huang JF, Chen SC, Lu SN, Lin ZY, et al. Prevalence and size of simple hepatic cysts in Taiwan: community- and hospital-based sonographic surveys. Gaoxiong Yi Xue Ke Xue Za Zhi 1995;11:564-567.
9. Gaines PA, Sampson MA. The prevalence and characterization of simple hepatic cysts by ultrasound examination. Br J Radiol 1989;62:335-337.
10. Carrim ZI, Murchison JT. The prevalence of simple renal and hepatic cysts detected by spiral computed tomography. Clin Radiol 2003;58:626-629.
11. Volk M, Strotzer M, Lenhart M, Techert J, et al. Frequency of benign hepatic lesions incidentally detected with contrast-enhanced thin-section portal venous phase spiral CT. Acta Radiol 2001;42:172-175.
12. Terada N, Ichioka K, Matsuta Y, Okubo K, et al. The natural history of simple renal cysts. J Urol 2002;167:21-23.
13. Nascimento AB, Mitchell DG, Zhang XM, Kamishima T, et al. Rapid MR imaging detection of renal cysts: age-based standards. Radiology 2001;221:628-632.
14. Laucks SP, McLachlan MS. Aging and simple cysts of the kidney. Br J Radiol 1981; 54:12-14.
15. Marumo K, Horiguchi Y, Nakagawa K, Oya M, et al. Incidence and growth pattern of simple cysts of the kidney in patients with asymptomatic microscopic hematuria. Int J Urol 2003;10:63-67.
16. Pederson JF, Emamian SA, Nielson MB. Simple renal cyst: relations to age and arterial blood pressure Br J Radiol 1993;66:581-584.
17. Neptune ER, Frischmeyer PA, Arking DE, Myers L, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 2003;33:407-411.
18. Ng CM, Cheng A, Myers LA, Martinez-Murillo F, et al. TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest 2004;114:1586-1592.
19. Habashi JP, Judge DP, Holm TM, Cohn RD, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006;312: 117-121.
20. Hartner A, Eifert T, Haas CS, Tuysuz C, et al. Characterization of the renal phenotype in a mouse model of Marfan syndrome. Virchows Arch 2004;445:382-388.