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 Table of Contents  
CASE REPORT
Year : 2017  |  Volume : 14  |  Issue : 2  |  Page : 109-111

Uhl's anomaly of the right ventricle in a 1-year-old child requiring a transplant: A brief report


1 Department of Pediatrics, College of Medicine, University of Nigeria, University of Nigeria Teaching Hospital, Ituku-Ozalla, Enugu State, Nigeria
2 Department of Paediatric Cardiology, Fortis Hospital Limited, Bhandup (West), Mumbai, Maharashtra, India

Date of Web Publication26-Oct-2017

Correspondence Address:
Josephat M Chinawa
Department of Pediatrics, College of Medicine, University of Nigeria, University of Nigeria Teaching Hospital, Ituku-Ozalla, Enugu State
Nigeria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/njc.njc_31_16

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  Abstract 

Uhl's anomaly of the right ventricle is a rare anomaly. At present, only about 84 cases have been reported in over a century. We report a case of a 1-year-old male child who presented to our outpatient pediatric cardiology clinic with a history of recurrent cough and difficulty in breathing and failure to gain weight in the preceding 2 months. Chest X-ray showed cardiomegaly, whereas electrocardiogram showed a normal sinus rhythm with poor right ventricular (RV) forces. Echocardiography showed severely dilated right ventricle with thinned out right ventricle wall and poor RV function with severe tricuspid regurgitation. He has been placed on aspirin, lasilactone, and clexane. However, there was no satisfactory surgical option available, and heart transplant was recommended. Uhl's anomaly of the right ventricle is a very rare anomaly which defies all surgical option except transplant. Early recognition institution of drugs that improves cardiac function may improve the quality of life of the child.

Keywords: Child, Mumbai, rare, Uhl's anomaly


How to cite this article:
Chinawa JM, Garekar S, Trivedi B. Uhl's anomaly of the right ventricle in a 1-year-old child requiring a transplant: A brief report. Nig J Cardiol 2017;14:109-11

How to cite this URL:
Chinawa JM, Garekar S, Trivedi B. Uhl's anomaly of the right ventricle in a 1-year-old child requiring a transplant: A brief report. Nig J Cardiol [serial online] 2017 [cited 2020 Aug 14];14:109-11. Available from: http://www.nigjcardiol.org/text.asp?2017/14/2/109/217277


  Introduction Top


Uhl'S anomaly, first named by Uhl in 1952, is a rare and unusual cardiac disorder which affects the right ventricle with the complete absence of right ventricular (RV) myocardium.[1] However, the septal and left ventricular myocardium are preserved.[1] The most important attributes of this anomaly are enlarged RV cavity, absence of apical trabeculation, and thin hypokinetic ventricular wall.[2]

Several appellations have been used to describe Uhl's anomaly ranging from ectasia of the right ventricle, congenital aplasia of the right ventricle, congenital hypoplasia of the right ventricle, idiopathic RV myocardial dysplasia, and absence of the RV myocardium to fatty infiltration and lipomatosis.[1],[3]

Embryologically, Uhl speculated that the primary congenital defect of this anomaly is a failure of development of the muscle of the primordium of the right ventricle, derived from the right-sided element of the paired primitive myoendocardial tubes in the very early embryo.[1] Uhl's anomaly is exceedingly rare, and the prevalence is difficult to estimate.[4] For the whole of the 20th century, only 84 cases were reported in the world literature.[4] The majority of reported cases are sporadic cases though there are cases of familial occurrence among siblings.[4]

There have been descriptions of several surgical approaches to the management of Uhl's anomaly including a bidirectional Glenn with atrial septectomy and disconnection of the main pulmonary artery followed by plicating of the RV cavity. However, cardiac transplant is the ultimate.[5]

This case is very rare, and only about 84 cases were reported since the 20th century.


  Case Report Top


This was a 1-year-old male child who presented to our outpatient pediatric cardiology clinic with a history of recurrent cough and difficulty in breathing and failure to gain weight in the preceding 2 months. He had been admitted to a private hospital in the previous month for severe difficulty in breathing. The elder sibling, who was born preterm at 32-week gestation, died on the 2nd day postoperation after a surgical repair of tracheoesophageal fistula. Mother is a housekeeper while father is a commercial tricycle driver. There was a regression of milestones few months before presentation.

Examination revealed a malnourished child who was pale, dehydrated with generalized hypotonia. The two heart sounds S1 and S2 were heard, but S2 was single with tender hepatomegaly. Anterior fontanel was fused.

Chest X-ray showed cardiomegaly with cardiothoracic ratio of 60%, whereas electrocardiogram showed a normal sinus rhythm with poor RV forces. Echocardiography showed severely dilated right ventricle with thinned out right ventricle walls and poor RV function with severe tricuspid regurgitation. There was no pulmonary Hypertension [Figure 1] and [Figure 2] showing still video of Uhl's anomaly]. A diagnosis of heart failure in a child with Uhl's anomaly was made. He has been placed on aspirin, lasilactone, and clexane. However, there was no satisfactory surgical option available, and heart transplant was recommended. He has now being listed in the transplant registry and is been followed up.
Figure 1: Still image showing Uhl's anomaly: The right ventricle is almost absent

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Figure 2: Still image showing Uhl's anomaly

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[Figure 1] and [Figure 2] showing still video of Uhl's anomaly.


  Discussion Top


This is a very rare anomaly which is usually seen at autopsy. However, increasing use of echocardiography has facilitated accurate diagnosis both in utero and thereafter.[6] This is the very first case seen in our center, and it was diagnosed at echocardiography after referral from a peripheral center.

It normally presents as congestive cardiac failure and failure to thrive.[7] It can also present as massive pulmonary edema and cardiac tamponade.[7] It could also masquerade as arrhythmogenic RV cardiomyopathy and Ebstein's anomaly.[7]

Some reports have noted a history of familial occurrence, male gender, younger age, clinical presentation of cardiac failure, exercise-induced death, and associated anomalies as associated variables of this anomaly.[8] In our case, he is a male child with no familial correlates of Uhl's anomaly, had RV ectasia, and clinically presented with heart failure and failure to thrive. Indeed, the male gender predominates in literatures with an incidence of 56% in Uhl's anomaly and 70% in the arrhythmogenic dysplasia.[6] There are two main modes of clinical presentation: congestive heart failure and arrhythmia. Congestive heart failure was by far the most common occurrence in the cases reported in literature.[9]

Treatment of Uhl's anomaly could either be palliative or definitive. Palliative treatment includes the treatment of heart failure using antifailure regimen, treatment of arrhythmias with antiarrhythmic drugs, and drainage of effusion.[10] Surgical palliative measures include closing the tricuspid valve, creating an atrial septostomy, and then doing a bidirectional Glenn, the well-known one and half ventricular repair.[10],[11] These measures, however, are not in itself an end but a means to an end. Definitive surgery is cardiac transplant.[10] We treated our case for heart failure, but he is now enrolled in our transplant register for cardiac transplant.


  Conclusion Top


Uhl's anomaly of the right ventricle is a very rare anomaly which is not amenable to most surgical options except transplant. Early recognition institution of drugs that improves cardiac function may improve the quality of life of the child.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Uhl HS. A previously undescribed congenital malformation of the heart: Almost total absence of the myocardium of the right ventricle. Bull Johns Hopkins Hosp 1952;91:197-209.  Back to cited text no. 1
[PUBMED]    
2.
Cardaropoli D, Russo MG, Paladini D, Pisacane C, Caputo S, Giliberti P, et al. Prenatal echocardiography in a case of Uhl's anomaly. Ultrasound Obstet Gynecol 2006;27:713-4.  Back to cited text no. 2
    
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;69:142-50.  Back to cited text no. 3
    
4.
Gerlis LM. Uhl's anomaly. Orphanet Encyclopedia; January, 2003. Available from: http://www.orpha.net/data/patho/GB/uk-uhl.pdf. [Last accessed on 2016 Aug 14].  Back to cited text no. 4
    
5.
Ganczar J, English R. Uhl's anomaly: Absence of the right ventricular myocardium. Ann Pediatr Cardiol 2015;8:71-3.  Back to cited text no. 5
    
6.
Benson CB, Brown DL, Roberts DJ. Uhl's anomaly of the heart mimicking Ebstein's anomaly in utero. J Ultrasound Med 1995;14:781-3.  Back to cited text no. 6
    
7.
Kilinc M, Akdemir I, Sivasli E. A case with Uhl's anomaly presenting with severe right heart failure. Acta Cardiol 2000;55:367-9.  Back to cited text no. 7
    
8.
Kisacik HL, Ozdemir K, Altunkeser B, Oguzhan A, Göksel S. Uhl's anomaly. Jpn Heart J 1999;40:503-7.  Back to cited text no. 8
    
9.
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;77:69-76.  Back to cited text no. 9
    
10.
Richardson JD, Teo KS, Bertaso AG, Wong DT, Disney P, Worthley SG. Uhl's anomaly. Int J Cardiol 2012;154:e36-7.  Back to cited text no. 10
    
11.
Azhari N, Assaqqat M, Bulbul Z. Successful surgical repair of Uhl's anomaly. Cardiol Young 2002;12:192-5.  Back to cited text no. 11
    


    Figures

  [Figure 1], [Figure 2]



 

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Abstract
Introduction
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