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AJP Rep 2016; 06(01): e91-e95
DOI: 10.1055/s-0035-1566296
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Prenatal Diagnosis of Uhl Anomaly with Autopsy Correlation

Saji Philip
1   Fetal Cardiac Services, Division of Pediatric Cardiology, St. Gregorios Cardio-Vascular Centre, Parumala, Kerala, India
,
Sarasa Bharati
2   Division of Cardiac Pathology, Frontier Mediville, Frontier Life Line Hospital, Chennai, India
,
Kottureth Mammen Cherian
3   Dr. K M. Cherian Heart Foundation, Frontier Life Line hospital, Chennai, India
,
Saroja Bharati
4   Department of Pathology, Rush University Medical Center, Chicago, University of Illinois at Chicago, Rosalind Franklin University of Sciences, North Chicago, Illinois
5   The Advocate Children's Hospital, Oak Lawn, Illinois
› Author Affiliations
Further Information

Publication History

27 September 2015

01 October 2015

Publication Date:
02 November 2015 (online)

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Abstract

Uhl anomaly is a rare form of congenital hypoplasia of the right ventricular myocardium. Here, we report, a rare finding in fetal cardiac ultrasound in a 33-year-old woman who presented at 20 weeks' of gestation. A diagnosis of Uhl anomaly was made. An autopsy was performed at 23weeks gestation after obtaining permission for medicolegal termination of pregnancy. Histopathological examination confirmed the diagnosis. Diagnosing Uhl anomaly in fetal life is essential since mortality and survival mainly depend on the severity of right ventricle dysfunction related to, the either partial or complete absence of the myocardium. Hence, surviving cases need to be followed up carefully and counselled accordingly.

Keywords

dilated right ventricle - fetal autopsy - right ventricular dysplasia - Uhl anomaly
 

  • References

  • 1 Osler WM. The Principles and Practice of Medicine. 6th ed. New York, NY: D. Appleton; 1905: 280
    Google Scholar
  • 2 Uhl HSM. A previously undescribed congenital malformation of the heart: almost total absence of the myocardium of the right ventricle. Bull Johns Hopkins Hosp 1952; 91 (3) 197-209
    PubMedGoogle Scholar
  • 3 Gerlis LM, Schmidt-Ott SC, Ho SY, Anderson RH. Dysplastic conditions of the right ventricular myocardium: Uhl's anomaly vs arrhythmogenic right ventricular dysplasia. Br Heart J 1993; 69 (2) 142-150
    CrossrefPubMedGoogle Scholar
  • 4 Vecht RJ, Carmichael DJS, Gopal R, Philip G. Uhl's anomaly. Br Heart J 1979; 41 (6) 676-682
    CrossrefPubMedGoogle Scholar
  • 5 Pamuru PR, Dokuparthi MV, Remersu S, Calambur N, Nallari P. Comparison of Uhl's anomaly, right ventricular outflow tract ventricular tachycardia (RVOT VT) & arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) with an insight into genetics of ARVD/C. Indian J Med Res 2010; 131 (1) 35-45
    PubMedGoogle Scholar
  • 6 Cardaropoli D, Russo MG, Paladini D , et al . Prenatal echocardiography in a case of Uhl's anomaly. Ultrasound Obstet Gynecol 2006; 27 (6) 713-714
    CrossrefPubMedGoogle Scholar
  • 7 O' Connor WN, Cotterill CM, Marion MT, Noonan JA. Defective regional myocardial development and vasculirization in one variant of tricuspid atresia-clinical and necropsy findings in three cases. Cardiol Young 1992; 2 (1) 42-52
    PubMedGoogle Scholar
  • 8 Hébert JL, Duthoit G, Hidden-Lucet F , et al. Images in cardiovascular medicine. Fortuitous discovery of partial Uhl anomaly in a male adult. Circulation 2010; 121 (22) e426-e429
    CrossrefPubMedGoogle Scholar
  • 9 Bharati S, Lev M. The Pathology of Congenital Heart Disease. Armonk, NY: Futura Publishing Co; 1996: 1524-1526
    Google Scholar
  • 10 Ikari NM, Azeka E, Aiello VD, Atik E, Barbero-Marcial M, Ebaid M. Uhl's anomaly. Differential diagnosis and indication for cardiac transplantation in an infant. Arq Bras Cardiol 2001; 77 (1) 69-76
    PubMedGoogle Scholar