Donald School Journal of Ultrasound in Obstetrics and Gynecology

Register      Login

VOLUME 14 , ISSUE 2 ( April-June, 2020 ) > List of Articles

CASE REPORT

Holt–Oram Syndrome: The Importance of Prenatal Detection

Emir Mahmutbegovic

Keywords : Congenital heart defect, Holt–Oram syndrome, Prenatal diagnosis, Screening

Citation Information : Mahmutbegovic E. Holt–Oram Syndrome: The Importance of Prenatal Detection. Donald School J Ultrasound Obstet Gynecol 2020; 14 (2):172-174.

DOI: 10.5005/jp-journals-10009-1644

License: CC BY-NC 4.0

Published Online: 30-07-2020

Copyright Statement:  Copyright © 2020; The Author(s).


Abstract

Aim: The aim of the paper is to present prenatal diagnosis of Holt–Oram syndrome (HOS), pregnancy management, out-of-hospital birth in the 33rd week of gestation, and postnatal treatment. Case description: The following fetal malformations were detected by ultrasound on the 30th week of gestation: bilateral upper lip and palate cleft, bilateral upper limb mesomelia with bilateral ulnar deviation of the wrist with absent thumb, ventricular septal defect, and distension of the colon. The amniotic fluid index was 23. Holt–Oram syndrome was suspected. During the ultrasound examination, a Kurjak antenatal neurodevelopmental test (KANET) was scored to be 8. At home, at the 33rd week of pregnancy, a premature rupture of the amniotic membranes occurred, followed by uterine contractions, and the patient was urgently transported to the hospital. During the transportation attended by the midwife, premature baby was delivered in the car not far from the hospital, where the baby was admitted at the age of 7 minutes. The baby was admitted to the neonatal intensive care unit with all prenatally detected congenital malformations present during the first check-up. The baby was in the life-threatening condition and died at the age of 48 hours. Conclusion: Holt–Oram syndrome should be prenatally detected in order to enable better prenatal counseling with the possibility of the interruption of pregnancy, which may be the option in severe cases, or if parents opt for continuation of pregnancy to discuss with the all possible options of pregnancy and postnatal outcome.


HTML PDF Share
  1. Barisic I, Boban L, Greenlees R, et al. Holt Oram syndrome: a registry-based study in Europe. Orphanet J Rare Dis 2014;9:156. DOI: 10.1186/s13023-014-0156-y.
  2. Brons JT, van Geijn HP, Wladimiroff JW, et al. Prenatal ultrasound diagnosis of the Holt–Oram syndrome. Prenat Diagn 1988;8(3): 175–181. DOI: 10.1002/pd.1970080303.
  3. Sunagawa S, Kikuchi A, Sano Y, et al. Prenatal diagnosis of Holt–Oram syndrome: role of 3-D ultrasonography. Congenit Anom (Kyoto) 2009;49(1):38–41. DOI: 10.1111/j.1741-4520.2008.00211.x.
  4. Basson CT, Cowley GS, Solomon SD, et al. The clinical and genetic spectrum of the Holt–Oram syndrome (heart-hand syndrome). N Engl J Med 1994;330(13):885–891. DOI: 10.1056/NEJM199403313301302.
  5. Elek C, Vitéz M, Czeizel E. Holt–Oram syndrome. Orv Hetil 1991;132(2):73–74, 77–78.
  6. Moczulska H, Respondek-Liberska M. Prenatal diagnosis of Holt–Oram syndrome. Prenat Cardio 2015;5(1):29–32.
  7. Rodagi SB, Surana SS, Potdar VR, et al. Holt–Oram syndrome associated with aortic atresia: a rare association. Heart Views 2016;17(1):27–29. DOI: 10.4103/1995-705X.182644.
  8. Singh B, Kariyappa M, Vijayalakshmi IB, et al. Holt–Oram syndrome associated with double outlet right ventricle: a rare association. Ann Pediatr Cardiol 2013;6(1):90–92. DOI: 10.4103/0974-2069.107245.
  9. Kumar V, Agrawal V, Jain D, et al. Tetralogy of Fallot with Holt–Oram syndrome. Indian Heart J 2012;64(1):95–98. DOI: 10.1016/S0019-4832(12)60021-2.
  10. Sinha R, Nema C. Rare cardiac defect in Holt–Oram syndrome. Cardiovasc J Afr 2012;23(2):e3–e4. DOI: 10.5830/CVJA-2011-017.
  11. Kumar R, Mahapatra SS, Datta M, et al. Holt–Oram syndrome in adult presenting with heart failure: a rare presentation. Case Rep Cardiol 2014;2014:130617.
  12. Spiridon MR, Petris AO, Gorduza EV, et al. Holt–Oram syndrome with multiple cardiac abnormalities. Cardiol Res 2018;9(5):324–329. DOI: 10.14740/cr767w.
  13. Zaragoza MV, Hakim SA, Hoang V, et al. Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly. Clin Genet 2017;91(3):499–500. DOI: 10.1111/cge.12870.
  14. Pakkasjarvi N, Koskimies E, Ritvanen A, et al. Characteristics and associated anomalies in radial ray deficiencies in Finland—a population-based study. Am J Med Genet A 2013;161A(2):261–267. DOI: 10.1002/ajmg.a.35707.
  15. Kurjak A, Chervenak FA. Donald School Textbook of Ultrasound in Obstetrics and Gynecology. 3rd edn, Jaypee Brothers Medical Pub; 2011;48:802–807.
  16. Kurjak A, Vecek N, Hafner T, et al. Prenatal diagnosis: what does four-dimensional ultrasound add? J Perinat Med 2002;30(1):57–62. DOI: 10.1515/JPM.2002.008.
  17. Kurjak A, Stanojević M, Salihagić-Kadić A, et al. Is four-Dimensional (4D) ultrasound entering a new field of fetal psychiatry? Psychiatria Danubina 2019;31(2):133–140. DOI: 10.24869/psyd.2019.133.
  18. McDermott DA, Bressan MC, He J, et al. TBX5 genetic testing validates strict clinical criteria for Holt–Oram syndrome. Pediatr Res 2005;58(5):981–986. DOI: 10.1203/01.PDR.0000182593.95441.64.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.