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2015 | 5 | 2 | 15-20

Article title

The Significance of Autopsy to Look for Extracardiac Anomalies, Despite Correct Prenatal Diagnosis of Hypoplastic Left Heart Syndrome in Two Siblings


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Thanks to recent progress in foetal imaging, it is now possible to detect many anatomical defects at earlier gestational age. To illustrate the importance of prenatal diagnosis and the impact of extracardiac congenital anomalies we presented the cases of sibling with prenatal diagnosis of hypoplastic left heart syndrome (HLHS) and post-mortem diagnosis of adrenal hypoplasia.Prenatal diagnosis was made in one mother twice, in two subsequent pregnancies, respectively at 22 and 18 weeks gestational age. The mother-to-be was referred to specialist foetal echocardiography because of suspected image of the heart. After the diagnosis was made, future parents were thoroughly informed about prognosis and possible management and decided to continue pregnancy, and treat a newborn, despite the fact that the foetal defect was diagnosed subsequently. The two newborns underwent surgical treatment and no complications occurred during the surgery. The children died after Norwood operation among the symptoms of acute adrenal failure. In post-mortem examination of the younger, the severe adrenal hypoplasia was identified.Prenatal diagnosis enables to make informed, conscious decisions at appropriate gestational age. Detection of congenital heart defect should incline an ultrasonographer towards searching for extracardiac lesions, which might significantly influence prognosis and surgical outcomes.









Physical description


1 - 6 - 2015
2 - 9 - 2014
29 - 6 - 2015
30 - 12 - 2015


  • Obstetrics & Gynecology Department, Jagiellonian Medical University, Cracow, Poland
  • Service de Pédiatrie, l'Hôpital Riviera, Site du Samaritain, Vevey
  • Polish-American Institute: Cardiac Surgery Department, Collegium Majus, Jagiellonian University, Cracow Poland
  • Polish-American Institute: Cardiac Surgery Department, Collegium Majus, Jagiellonian University, Cracow Poland


  • 1. Simpson J.M.: Hypoplastic left heart syndrome. Ultrasound Obstet Gynecol 2000, 15:271-278
  • 2. Rychik J: Hypoplastic left heart syndrome: from in-utero diagnosis to school age. Semin Fetal Neonatal Med. 2005, 10:553-566
  • 3. Natowicz M, Chatten J, Clancy R, et al.: Genetic disorders and major extracardiac anomalies associated with the hypoplastic left heart syndrome. Pediatrics 1988, 82:698-706
  • 4. Natowicz M, Kelley RI: Association of Turner syndrome with hypoplastic left-heart syndrome. Am J Dis Child 1987, 141:218-220
  • 5. Kletter GB, Gorski JL, Kelch RP. Congenital adrenal hypoplasia and isolated gonadotropin deficiency. Trends Endocrinol Metab 1991, 2:123-128
  • 6. Ohye R.G., Devaney E.J., Hirsch J.C. et al: The modified Blalock-Taussig shunt versus the right ventricle-to-pulmonary artery conduit for the Norwood procedure. Pediatr Cardiol 2007, 28: 122-125
  • 7. Kolcz J, Skladzien T, Kordon Z, Rudzinski A, Skalski J: Impact of right ventricle-pulmonary artery conduit placement on pulmonary artery development after the Norwood procedure in hypoplastic left heart syndrome. Eur J Cardiothorac Surg 2012, 42: 218-23
  • 8. Kołcz J, Skalski J: Zespół niedorozwoju lewego serca - aktualne problem. Prenat Cardio 2012, 2(2): 34-37, suppl.
  • 9. Azakie A, Benson LN, Coles JG, Lee KJ, McCrindle BW, Merklinger SL, Van Arsdell GS, Williams WG: Evolving strategies and improving outcomes of the modified Norwood procedure: a 10-year single institution experience. Ann Thorac Surg 2001, 71:1349-1353
  • 10. Andrews R, Anderson D, Austin C, Baker E, Quereshi S, Rosenthal E, Sherland G, Simpson J, Rollings S, Tulloh R: Outcome of staged reconstructive surgery for hypoplastic left heart syndrome following antenatal diagnosis. Arch Dis Child 2001, 85:474-477
  • 11. Levey A, Glickstein JS, Kleinman CS, Lavasseur SM, Chen J, Gersony WM, Williams IA: The impact of Prenatal Diagnosis of Complex Congenital Heart Disease on Neonatal Outcomes. Pediatr Cardiol 2010, 31:587-597
  • 12. Viemann PM, Partsch CJ, et al: Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene. J Clin Endocrinol Metabol 1998, 83 :2666-74
  • 13. Dasopoulou M, Baroutis G: Congenital adrenal hypoplasia presenting as severe respiratory failure. Indian Pediatr 2005, 42:616-7
  • 14. Uttley WS: Familial congenital adrenal hypoplasia. Arch Dis Child 1968, 43: 724-30
  • 15. Respondek-Liberska M, Szymkiewicz-Dangel J, Tobota Z, Słodki M. Założenia i wstępne wnioski Ogólnopolskiego Rejestru Patologii Kardiologicznych Płodów, Polski Przegląd Kardiologiczny 2008, 10, 2, 129-135
  • 16. Radzymińska - Chruściel B, Respondek - Liberska M, Janiak K, Foryś S, Żarkowska A, Nawara-Baran A, Rzepecka-Węglarz B, Maroszyńska I, Gulczyńska E, Rudziński A, Sysa A.: Losy płodów z wadami serca z hypoplastyczną lewą komorą serca - badanie dwuośrodkowe - Zakład Diagnostyki i Profilaktyki Wad Wrodzonych Płodu Instytutu Centrum Zdrowia Matki Polki w Łodzi oraz Pracowni Echokardiografii Płodowej Centrum Medycznego Ujastek w Krakowie. Ultrasonografia 2011, 11: 8-15

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