Year : 2020  |  Volume : 13  |  Issue : 2  |  Page : 167--170

Prenatal diagnosis of asplenia syndrome with sliding hiatus hernia in a fetus


Balaganesh Karmegaraj1, Satjeet Kaur Deol2, Vivek Krishnan2, Balu Vaidyanathan1,  
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

Correspondence Address:
Prof. Balu Vaidyanathan
Department of Pediatric cardiology, Fetal Cardiology Division, Amrita Institute of Medical Sciences, Kochi - 682 041, Kerala
India

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.



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;13:167-170


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 2022 Jul 3 ];13:167-170
Available from: https://www.annalspc.com/text.asp?2020/13/2/167/281096


Full Text



 Introduction



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}

 Case Report



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}{Figure 2}{Figure 3}{Figure 4}

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}{Figure 6}

 Discussion



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}

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



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.

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