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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

Content

Title variants

Languages of publication

EN

Abstracts

EN
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.

Publisher

Year

Volume

5

Issue

2

Pages

15-20

Physical description

Dates

published
1 - 6 - 2015
received
2 - 9 - 2014
accepted
29 - 6 - 2015
online
30 - 12 - 2015

Contributors

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

References

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  • 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
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  • 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
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  • 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

Document Type

Publication order reference

Identifiers

YADDA identifier

bwmeta1.element.-psjd-doi-10_12847_06153
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