AJP Rep 2013; 03(02): 097-102
DOI: 10.1055/s-0033-1344004
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Fetal Heterotaxy with Tricuspid Atresia, Pulmonary Atresia, and Isomerism of the Right Atrial Appendages at 22 Weeks

Julia E. Solomon
1   Division of Maternal Fetal Medicine, Fetal Diagnostic Center, St. Joseph's Hospital and Medical Center–Dignity Health, Phoenix, Arizona
John H. Stock
2   Arizona Pediatric Cardiology Consultants, Pediatrix Medical Group, Phoenix, Arizona
Randy R. Richardson
3   Department of Radiology, St. Joseph's Hospital and Medical Center–Dignity Health, Phoenix, Arizona
Norman H. Silverman
4   Division of Pediatric Cardiology, University of California at San Francisco, San Francisco, California
› Author Affiliations
Further Information

Publication History

26 February 2013

16 March 2013

Publication Date:
21 May 2013 (online)


We report the accurate prenatal diagnosis at 22 weeks gestation of right atrial isomerism in association with tricuspid atresia. Several distinctive sonographic features of isomerism of the right atrial appendages were present in this fetus: complex cardiac abnormality, ventriculoarterial discordance, juxtaposition of the aorta and the inferior vena cava to the right side, pulmonary atresia, and anomalous pulmonary venous return to the morphological right atrium. Tricuspid atresia, which is an extremely rare lesion within heterotaxy spectrum disorders, was present. Postnatal investigations confirmed all prenatally diagnosed abnormalities, with additional findings of pulmonary atresia with discontinuous pulmonary arteries and bilateral arterial ducts, asplenia, and bilateral eparterial bronchi. To our knowledge, tricuspid atresia in the setting of isomerism of the right atrial appendages has not previously been diagnosed or reported prenatally. Because of the complexity of cardiac lesions that may be present in cases of atrial isomerism, these disorders should be considered even if sonographic findings are uncommon or atypical.

  • References

  • 1 Jacobs JP, Anderson RH, Weinberg PM , et al. The nomenclature, definition and classification of cardiac structures in the setting of heterotaxy. Cardiol Young 2007; 17 (Suppl. 02) 1-28
  • 2 Uemura H, Ho SY, Devine WA, Kilpatrick LL, Anderson RH. Atrial appendages and venoatrial connections in hearts from patients with visceral heterotaxy. Ann Thorac Surg 1995; 60: 561-569
  • 3 Anderson C, Devine WA, Anderson RH, Debich DE, Zuberbuhler JR. Abnormalities of the spleen in relation to congenital malformations of the heart: a survey of necropsy findings in children. Br Heart J 1990; 63: 122-128
  • 4 Abuhamad AZ, Robinson JN, Bogdan D, Tannous RJ. Color Doppler of the splenic artery in the prenatal diagnosis of heterotaxic syndromes. Am J Perinatol 1999; 16: 469-473
  • 5 Yoo SJ, Friedberg MK, Jaeggi E In: Abnormal visceral and atrial situs and congenital heart disease. Yagel S, Silverman NH, Gembruch U, , eds. Fetal Cardiology. 2nd ed. Informa Healthcare USA Inc. 52 Vanderbilt Avenue New York, NY 2009: 352-354
  • 6 Berg C, Geipel A, Kohl T , et al. Fetal echocardiographic evaluation of atrial morphology and the prediction of laterality in cases of heterotaxy syndromes. Ultrasound Obstet Gynecol 2005; 26: 538-545
  • 7 Van Praagh R, Van Praagh S. Atrial isomerism in the heterotaxy syndromes with asplenia, or polysplenia, or normally formed spleen: an erroneous concept. Am J Cardiol 1990; 66: 1504-1506
  • 8 Ho SY, Cook A, Anderson RH, Allan LD, Fagg N. Isomerism of the atrial appendages in the fetus. Pediatr Pathol 1991; 11: 589-608
  • 9 Hashmi A, Abu-Sulaiman R, McCrindle BW, Smallhorn JF, Williams WG, Freedom RM. Management and outcomes of right atrial isomerism: a 26-year experience. J Am Coll Cardiol 1998; 31: 1120-1126
  • 10 Berg C, Geipel A, Kamil D , et al. The syndrome of right isomerism—prenatal diagnosis and outcome. Ultraschall Med 2006; 27: 225-233
  • 11 Rubino M, Van Praagh S, Kadoba K, Pessotto R, Van Praagh R. Systemic and pulmonary venous connections in visceral heterotaxy with asplenia. Diagnostic and surgical considerations based on seventy-two autopsied cases. J Thorac Cardiovasc Surg 1995; 110: 641-650
  • 12 Taketazu M, Lougheed J, Yoo SJ, Lim JS, Hornberger LK. Spectrum of cardiovascular disease, accuracy of diagnosis, and outcome in fetal heterotaxy syndrome. Am J Cardiol 2006; 97: 720-724
  • 13 Berg C, Lachmann R, Kaiser C , et al. Prenatal diagnosis of tricuspid atresia: intrauterine course and outcome. Ultrasound Obstet Gynecol 2010; 35: 183-190
  • 14 Wald RM, Tham EB, McCrindle BW , et al. Outcome after prenatal diagnosis of tricuspid atresia: a multicenter experience. Am Heart J 2007; 153: 772-778
  • 15 Cohen MS, Anderson RH, Cohen MI , et al. Controversies, genetics, diagnostic assessment, and outcomes relating to the heterotaxy syndrome. Cardiol Young 2007; 17 (Suppl. 02) 29-43