CardioVascular and Interventional Radiology

, Volume 29, Issue 5, pp 920–923 | Cite as

Recurrent Congenital Diaphragmatic Hernia in Ehlers-Danlos Syndrome

  • I. Chun Lin
  • Sheung Fat Ko
  • Chie Song Shieh
  • Chien Fu Huang
  • Shao Ju Chien
  • Chi Di Liang


Ehlers-Danlos syndrome (EDS) includes a group of connective tissue disorders with abnormal collagen metabolism and a diverse clinical spectrum. We report two siblings with EDS who both presented with congenital diaphragmatic hernia (CDH). The elder sister suffered from recurrent diaphragmatic hernia twice and EDS was overlooked initially. Echocardiography as well as contrast-enhanced magnetic resonance angiography (MRA) showed dilatation of the pulmonary artery, and marked elongation and tortuosity of the aorta and its branches. A diagnosis of EDS was eventually established when these findings were coupled with the clinical features of hyperelastic skin. Her younger brother also had similar features. This report emphasizes that EDS may present as CDH in a small child which could easily be overlooked. Without appropriate surgery, diaphragmatic hernia might occur. Echocardiographic screening is recommended in patients with CDH. Contrast-enhanced MRA can be helpful in delineation of abnormally tortuous aortic great vessels that are an important clue to the early diagnosis of EDS.


Diaphragmatic hernia Recurrent Ehlers-Danlos Syndrome Aorta Tortuous 



We would like to acknowledge Mimi Tzeng for manuscript preparation.


  1. 1.
    Prockop DJ, Kivirikko KI (1984) Heritable diseases of collagen. N Engl J Med 311:376–386CrossRefPubMedGoogle Scholar
  2. 2.
    Byers PH (1995) Ehlers-Danlos syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 7th ed. McGraw-Hill. New York, pp 405–461Google Scholar
  3. 3.
    Byers PH (1994) Ehlers-Danlos syndrome: Recent advances and current understanding of the clinical and genetic heterogeneity. J Invest Dermatol 103:47S–52SCrossRefPubMedGoogle Scholar
  4. 4.
    Abdul Wahab A, Janahi IA, Eltohami A, et al. (2003) A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar. Acta Paediatr 92:456–462CrossRefPubMedGoogle Scholar
  5. 5.
    Puri P, Gorman F (1984) Lethal nonpulmonary anomalies associated with congenital diaphragmatic hernia: Implications for early intrauterine surgery. J Pediatr Surg 19:29–32CrossRefPubMedGoogle Scholar
  6. 6.
    Cunniff C, Jones KL, Jones MC (1990) Patterns of malformation in children with congenital diaphragmatic defects. J Pediatr 116:258–261CrossRefPubMedGoogle Scholar
  7. 7.
    Simson JN, Eckstein HB (1985) Congenital diaphragmatic hernia: A 20 year experience. Br J Surg 72:733–736CrossRefPubMedGoogle Scholar
  8. 8.
    Greenwood RD, Rosenthal A, Nadas AS (1976) Cardiovascular abnormalities associated with congenital diaphragmatic hernia. Pediatrics 57:92–97PubMedGoogle Scholar
  9. 9.
    Fitzgerald RJ (1977). Congenital diaphragmatic hernia: A study of mortality factors. Ir J Med Sci 146:280–284CrossRefPubMedGoogle Scholar
  10. 10.
    Barabas AP (1967) Heterogeneity of the Ehlers-Danlos syndrome: Description of three clinical types and a hypothesis to explain the basic defects. Br Med J 2:612–613CrossRefPubMedPubMedCentralGoogle Scholar
  11. 11.
    Lees MH, Menashe VD, Sunderland CO, et al. (1969) Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries. J Pediatr 75:1031–1036CrossRefPubMedGoogle Scholar
  12. 12.
    Germain DP, (2002) Clinical and genetic features of vascular Ehlers-Danlos syndrome. Ann Vasc Surg 16:391–397CrossRefPubMedGoogle Scholar
  13. 13.
    Freeman RK, Swegle J, Sise MJ (1996) The surgical complications of Ehlers-Danlos syndrome. Am Surg 62:869–873PubMedGoogle Scholar
  14. 14.
    Ratani RS, Yang DC, Kalani J, et al. (2000) An intrathoracic wandering spleen in a patient with Ehlers-Danlos syndrome and diaphragmatic hernia. Clin Nucl Med 25:738–739CrossRefPubMedGoogle Scholar
  15. 15.
    Iglesias JL, Renard T (1998) Diaphragmatic hernia in an 8-year-old with Ehlers-Danlos syndrome. Pediatr Surg Int 13:553–555CrossRefPubMedGoogle Scholar
  16. 16.
    Hajer GF, vd Staak FH, de Haan AF, et al. (1998) Recurrent congenital diaphragmatic hernia: Which factors are involved? Eur J Pediatr Surg 8:329–333CrossRefPubMedGoogle Scholar
  17. 17.
    Saltzman DA, Ennis JS, Mehall JR, et al. (2001) Recurrent congenital diaphragmatic hernia: A novel repair. J Pediatr Surg 36:1768–1769CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, Inc. 2006

Authors and Affiliations

  • I. Chun Lin
    • 1
  • Sheung Fat Ko
    • 1
  • Chie Song Shieh
    • 1
  • Chien Fu Huang
    • 1
  • Shao Ju Chien
    • 1
  • Chi Di Liang
    • 1
  1. 1.Department of Pediatric Cardiology and RadiologyChang Gung Children’s Hospital, Chang Gung UniversityTaoyuanTaiwan

Personalised recommendations