Prenatal Diagnosis of Uhl Anomaly with Autopsy Correlation

Saji Philip; Sarasa Bharati; Kottureth Mammen Cherian; Saroja Bharati

doi:10.1055/s-0035-1566296

American Journal of Perinatology Reports, Inhaltsverzeichnis

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

Autor*innen

Saji Philip

¹Fetal Cardiac Services, Division of Pediatric Cardiology, St. Gregorios Cardio-Vascular Centre, Parumala, Kerala, India
Sarasa Bharati

²Division of Cardiac Pathology, Frontier Mediville, Frontier Life Line Hospital, Chennai, India
Kottureth Mammen Cherian

³Dr. K M. Cherian Heart Foundation, Frontier Life Line hospital, Chennai, India
Saroja Bharati

⁴Department of Pathology, Rush University Medical Center, Chicago, University of Illinois at Chicago, Rosalind Franklin University of Sciences, North Chicago, Illinois

⁵The Advocate Children's Hospital, Oak Lawn, Illinois

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

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Referenzen

References
1 Osler WM. The Principles and Practice of Medicine. 6th ed. New York, NY: D. Appleton; 1905: 280
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
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
4 Vecht RJ, Carmichael DJS, Gopal R, Philip G. Uhl's anomaly. Br Heart J 1979; 41 (6) 676-682
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
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
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
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
9 Bharati S, Lev M. The Pathology of Congenital Heart Disease. Armonk, NY: Futura Publishing Co; 1996: 1524-1526
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