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Table of Contents   
CASE REPORT  
Year : 2020  |  Volume : 13  |  Issue : 2  |  Page : 167-170
Prenatal diagnosis of asplenia syndrome with sliding hiatus hernia in a fetus


1 Departmentof Fetal Cardiology, Amrita School of Medicine, Amrita Institute of Medical Sciences, Kochi, Kerala, India
2 Department of Fetal Medicine, Amrita School of Medicine, Amrita Institute of Medical Sciences, Kochi, Kerala, India

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Date of Submission08-Mar-2019
Date of Decision05-Jun-2019
Date of Acceptance05-Dec-2019
Date of Web Publication20-Mar-2020
 

   Abstract 


We report a case of right isomerism with a complex congenital heart disease associated with hiatus hernia in a 19-week-old fetus with relevant review of literature. This report highlights the importance of having a proper checklist for prenatal identification of extracardiac manifestations of isomerism syndromes. This will enable us to provide an effective family-centered counseling for perinatal management of these complex lesions. To our knowledge, prenatal sonographic detection of a sliding hiatal hernia in a fetus with right isomerism has not been reported previously.

Keywords: Asplenia syndrome, fetus, sliding hernia

How to cite this article:
Karmegaraj B, Deol SK, Krishnan V, Vaidyanathan B. Prenatal diagnosis of asplenia syndrome with sliding hiatus hernia in a fetus. Ann Pediatr Card 2020;13:167-70

How to cite this URL:
Karmegaraj B, Deol SK, Krishnan V, Vaidyanathan B. Prenatal diagnosis of asplenia syndrome with sliding hiatus hernia in a fetus. Ann Pediatr Card [serial online] 2020 [cited 2020 Jun 5];13:167-70. Available from: http://www.annalspc.com/text.asp?2020/13/2/167/281096





   Introduction Top


Abnormal lateralization of the thoracic and abdominal organs, which are arranged in an unusual arrangement, is called isomersim syndrome.[1] It is found in between 2.2% and 4.2% of infants with congenital heart disease (CHD). It is typically associated with malformations in the central nervous, pulmonary, gastrointestinal, immunologic, and genitourinary systems [Table 1].[2],[3] Previously, the syndrome was segregated on the basis of the anatomy of spleen into asplenia and polysplenia categories. However, it has been proven that the spleen is not the best discriminator between the two subsets of isomerism syndromes.[4]
Table 1: Various extracardiac malformations associated with right isomerism

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   Case Report Top


A 42-year-old second gravida was referred to us at 19 weeks and 2 days for fetal cardiac evaluation in view of a suspicion of CHD on fetal anomaly scan. Fetal echocardiogram was performed using the Voluson E10 equipment (GE medical systems, Zipf, Austria), which showed a complex CHD bearing the diagnosis of right isomerism. The situs was ambiguous with dextrocardia [Figure 1]. Four-chamber view showed a common atrium, a common atrioventricular valve, a large inlet, and a muscular ventricular septal defect, amounting to a single ventricle [Figure 2]. The outflow tracts showed only a single outlet (aorta) with pulmonary atresia [Figure 3]. Venous system evaluation showed total anomalous pulmonary venous connection to the right superior vena cava with intact inferior vena cava and bilateral superior vena cava [Figure 4]. The cardiac rhythm was sinus with a fetal heart rate of 146 beats/min.
Figure 1: (visceral situs): Midline liver, absent spleen, aorta to the right and inferior vena cava to right and anterior of aorta suggestive of right isomerism

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Figure 2: Four-chamber view shows stomach on the left side and cardiac apex on the right side. Both stomach shadow and cardiac chambers are visible in the four chamber view

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Figure 3: Three-vessel view showing bilateral superior vena cava and single outlet (dilated aorta) and absence of pulmonary artery suggesting pulmonary atresia. Asc-Ao- ascending aorta.

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Figure 4: A channel between left atrium and spine in the area behind the heart suggestive of total anomalous pulmonary venous return

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In the four-chamber view, a hypoechoic structure was seen in the left fetal thoracic cavity, and the heart was visible in the right thoracic cavity in the transverse view [Figure 2]. The total lung area measured in four-chamber view was within normal limits for gestational age. There was no mediastinal shift, and the diaphragm had a normal appearance, thus excluding the possibility of a congenital diaphragmatic hernia. Fetal abdominal examination showed isolated complete herniation of the stomach and gastroesophageal junction (GEJ) [Figure 5]. Thus, the possibility of a sliding hiatus hernia was considered. An open neural tube defect in the occipital region suggestive of occipital meningomyelocele with kyphosis was noted [Figure 6]. Complexity of the CHD and the extracardiac abnormalities were explained to the parents, and they opted for medical termination of pregnancy. Fetal autopsy was not performed because the parents refused for the same.
Figure 5: Coronal view showing complete herniation of the stomach including gastroesophageal junction in to the thoracic cavity with absence of stomach shadow in abdomen (finger mark showing the level of diaphragm). ST: Stomach: BL: Bladder

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Figure 6: A neural tube defect in the occipital region suggestive of occipital meningomyelocele

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   Discussion Top


Right isomerism is characterized by disruption of early left-right axis determination and bilateral right sidedness.[5] It is typically associated with complex congenital heart malformations such as unbalanced complete atrioventricular septal defects along with asplenia and intestinal malformation.[6] It generally carries a suboptimal prognosis.[7] Distribution of cardiac and extracardiac anomalies is different in two types of isomersim syndromes [Table 2].[8]
Table 2: Distribution of various cardiac and extracardiac malformations associated with right and left isomerisms

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A retrospective postnatal study showed a significant association of hiatus hernia in patients with right isomerism (14.3% n = 17/143). The common clinical manifestations are vomiting, recurrent bronchiolitis or pneumonia, and upper gastrointestinal bleeding. Patients with hiatus hernia can have associated midgut malrotation. However, the overall mortality was similar between those patients with and without hiatus hernia.[9] There was an isolated case report on the prenatal diagnosis of hiatus hernia (paraesophageal) associated with isomerism syndromes. In this report, the authors described a paraesophageal hiatus hernia, with the GEJ confined to its normal position with a part of the stomach herniating into the chest.[10] However, in our case, the entire stomach including GEJ was herniating into the thoracic cavity. To our knowledge, prenatal sonographic detection of a sliding hiatal hernia in a fetus with asplenia syndrome has not been reported previously.


   Conclusion Top


This case illustrates the importance of having a proper checklist for prenatal identification of extracardiac manifestations of isomerism syndromes. This will enable us to provide an effective family-centered counseling and perinatal management of these complex lesions.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Jacobs JP, Anderson RH, Weinberg PM, Walters HL 3rd, Tchervenkov CI, Del Duca D, et al. The nomenclature, definition and classification of cardiac structures in the setting of heterotaxy. Cardiol Young 2007;17 Suppl 2:1-28.  Back to cited text no. 1
    
2.
Loomba R, Shah PH, Anderson RH. Fetal magnetic resonance imaging of malformations associated with heterotaxy. Cureus 2015;7:e269.  Back to cited text no. 2
    
3.
Kothari SS. Non-cardiac issues in patients with heterotaxy syndrome. Ann Pediatr Cardiol 2014;7:187-92.  Back to cited text no. 3
    
4.
Ivemark BI. Implications of agenesis of the spleen on the pathogenesis of conotruncus anomalies in childhood; an analysis of the heart malformations in the splenic agenesis syndrome, with fourteen new cases. Acta Paediatr Suppl 1955;44:7-110.  Back to cited text no. 4
    
5.
Hildreth V, Webb S, Chaudhry B, Peat JD, Phillips HM, Brown N, et al. Left cardiac isomerism in the Sonic hedgehog null mouse. J Anat 2009;214:894-904.  Back to cited text no. 5
    
6.
Anderson RH, Spicer DE, Loomba R. Is an Appreciation of Isomerism the Key to Unlocking the Mysteries of the Cardiac Findings in Heterotaxy? J Cardiovasc Dev Dis 2018;5. pii: E11.  Back to cited text no. 6
    
7.
Buca DIP, Khalil A, Rizzo G, Familiari A, Di Giovanni S, Liberati M, et al. Outcome of prenatally diagnosed fetal heterotaxy: Systematic review and meta-analysis. Ultrasound Obstet Gynecol 2018;51:323-30.  Back to cited text no. 7
    
8.
Gottschalk I, Stressig R, Ritgen J, Herberg U, Breuer J, Vorndamme A, et al. Extracardiac anomalies in prenatally diagnosed heterotaxy syndrome. Ultrasound Obstet Gynecol 2016;47:443-9.  Back to cited text no. 8
    
9.
Hsu JY, Chen SJ, Wang JK, Ni YH, Chang MH, Wu MH. Clinical implication of hiatal hernia in patients with right isomerism. Acta Paediatr 2005;94:1248-52.  Back to cited text no. 9
    
10.
Yamamoto N, Hidaka N, Anami A, Hojo S, Masumoto K, Taguchi T, et al. Prenatal sonographic diagnosis of a hiatal hernia in a fetus with asplenia syndrome. J Ultrasound Med 2007;26:1257-61.  Back to cited text no. 10
    

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Correspondence Address:
Prof. Balu Vaidyanathan
Department of Pediatric cardiology, Fetal Cardiology Division, Amrita Institute of Medical Sciences, Kochi - 682 041, Kerala
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/apc.APC_34_19

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    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]
 
 
    Tables

  [Table 1], [Table 2]



 

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