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 Table of Contents  
Year : 2018  |  Volume : 23  |  Issue : 2  |  Page : 92-94

Syndrome of right isomerism: Ivemark syndrome

1 Department of Pediatrics, Dr. BAM Hospital, Mumbai, Maharashtra, India
2 Department of Pediatric Cardiology, Dr. BAM Hospital, Mumbai, Maharashtra, India

Date of Web Publication11-Oct-2018

Correspondence Address:
Dr. Dipti Jain
C/7, Nirmal Park, Byculla East, Mumbai - 400 047, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jmgims.jmgims_31_17

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Heterotaxy Syndrome is a complex syndrome that occurs when the axes of the body fail to rotate correctly when developing in the uterus. This can result in many different organ systems being affected. Cardiac malformations are a major component of heterotaxy syndrome, resulting in significant morbidity and mortality. Abnormal cardiac development typically leads to atrial appendage isomerism, resulting in either bilateral paired right atria (right atrial isomerism or paired left atria (left atrial isomerism. Here we present a one and a half-month-old female child with right isomerism.

Keywords: Asplenia, Ivemark syndrome, multiple cardiac defects

How to cite this article:
Jain D, Chavan B, Manoj A. Syndrome of right isomerism: Ivemark syndrome. J Mahatma Gandhi Inst Med Sci 2018;23:92-4

How to cite this URL:
Jain D, Chavan B, Manoj A. Syndrome of right isomerism: Ivemark syndrome. J Mahatma Gandhi Inst Med Sci [serial online] 2018 [cited 2022 Sep 30];23:92-4. Available from: https://www.jmgims.co.in/text.asp?2018/23/2/92/243129

  Introduction Top

Ivemark syndrome is a rare disorder that affects multiple organ systems of the body. It is characterized by the absence (asplenia) or underdevelopment (hypoplasia) of the spleen, malformations of the heart, and abnormal arrangement of the internal organs of the chest and abdomen. The symptoms of Ivemark syndrome can vary greatly depending upon the specific abnormalities present. Many infants have symptoms associated with abnormalities affecting the heart, including bluish discoloration of the skin (cyanosis), heart murmurs, and signs of congestive heart failure. Ivemark syndrome often causes life-threatening complications during infancy.[1] The exact cause of Ivemark syndrome is not known.

  Case Report Top

A 45-day-old female child, third by birth order, with two elder normal female siblings 6 years and 4 years, respectively, born of nonconsanguinous marriage by emergency cesarean section due to fetal distress, with uneventful postnatal period, was admitted in our hospital with a history of fever, cough, and cold for 14 days and breathlessness, bluish discoloration of skin, feeding difficulty, and irritability for 7 days. On examination, the child was cyanosed, heart rate and respiratory rate were 175 and 74 beats per min, respectively, blood pressure was 73/48 mmHg, capillary refilling time was <3 s, and SpO2 was 41% which improved to 65% with oxygen by nasal prongs. There was no facial dysmorphism, anterior and posterior fontanelles were wide open, and there was no sacral or pedal edema. There were bilateral crepitations, wheeze, tachycardia, and pansystolic murmur, and liver was palpable 2 cm below the costal margin. On investigation, arterial blood gas showed pH 7.25, PCO2 29, PO2 39, HCO3 12, SO2 66, and BE 14. Hemoglobin was 14.7 g/dL, white blood cell count was 12,300/cumm, and platelet count was 4.4 lakhs/cumm. Chest X-ray showed consolidation with collapse of the right middle and lower lobe. Echocardiography showed situs ambiguous, levocardia, unbalanced atrioventricular (AV) canal, hypoplastic left ventricle (LV), ostium primum atrial septal defect, small patent ductus arteriosus (PDA) to left pulmonary artery (1.8 mm) with bidirectional shunt, Dextro-Transposition of Great Arteries confluent 4.5 mm left pulmonary artery/right pulmonary artery each, single origin of coronary arteries, obstructed infradiaphragmatic total anomalous pulmonary venous connection (TAPVC) with 30 mm pressure gradient, and severe pulmonary arterial hypertension with adequate biventricular function. Ultrasound of the abdomen revealed midline location of the liver and asplenia, while other organs appeared normal. Computed tomography (CT) angiography was done which showed infradiaphragmatic TAPVC with four pulmonary veins draining into the inferior vena cava (IVC) through a 3 cm long vertical vein, severe stenosis at the junction of vertical vein to IVC, mono-atrium with single AV valve draining equally into LV and right ventricle (RV), 2 mm PDA, and double-outlet RV with confluent main and branch pulmonary arteries [Figure 1]. The presence of Bochdalek hernia was also reported. During hospitalization, the patient continued to have severe cyanotic spells partially controlled and one episode of seizures which was controlled by medication. CT scan of the brain revealed an ill-defined hypodensity located in the right cerebral hemisphere, especially in right frontoparietal subcortical white matter, suggestive of right middle cerebral artery-anterior cerebral artery watershed territory infarct. When the parents were informed regarding cardiac condition, high surgical mortality, and prognosis, they refused further treatment, were not willing for chromosomal analysis, and left against medical advice.
Figure 1: (a) Computed tomographic pulmonary angiography showing total anomalous pulmonary venous connection with two left and two right pulmonary veins draining into 3 cm long common vertical vein which drains into infradiaphragmatic inferior vena cava, (b) superior vena cave and inferior vena cava draining into mono-atrium, (c) 3 cm vertical vein draining into inferior vena cava, (d) main pulmonary artery arises from main right ventricle. Main and branch pulmonary artery are confluent. Left aortic arch is noted. Aorta arises from main right ventricle. Small patent ductus arteriosus of 2 mm diameter is seen

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  Discussion Top

Heterotaxy is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. Patients with heterotaxy can be stratified into the subsets of asplenia syndrome and polysplenia syndrome, or the subsets of heterotaxy with isomerism of the right atrial appendages also known as Ivemark syndrome and heterotaxy with isomerism of the left atrial appendages.

It is difficult to calculate precisely the incidence of isomerism due to the potential underestimation of the incidence and prevalence. It seems likely that most cases of right isomerism are recognized in infancy because of the presence of severe forms of cyanotic heart disease. Asians, however, show a higher prevalence of heterotaxy syndrome (32%) compared to Westerners.[2]

No single etiological factor seems to be responsible for the development of abnormal lateralization and isomerism. Evidence from human studies and animal models suggests causal heterogeneity. Chromosomal anomalies are only rarely associated with visceral heterotaxy. Cardiac abnormalities included common AV valve (81%), ventricular hypoplasia or single ventricle (73%), abnormal ventriculoarterial connections (96%), pulmonary outflow tract obstruction (84%), anomalous pulmonary venous drainage (87%), and pulmonary vein obstruction (30%).[3] Almost without exception, infants with right isomerism have obstruction of the pulmonary outflow tract, as well as common mixing situations and pulmonary atresia is present in two-fifths of the cases.[4] Kumar et al. reported a case of right isomerism who presented at 5 months of age with acyanotic heart disease: perimembranous ventricular septal defect with endocardial cushion defect with normal RV and LV outflow tract.[5]

In our case too, there was no obstruction of the pulmonary outflow tract. On the contrary, the main pulmonary arteries and the branch pulmonary arteries were dilated. The other cardiac findings, common atrium, major AV valve anomaly, single ventricle or ventricular hypoplasia, abnormal ventriculoarterial connection, and no aortic outflow obstruction were in accordance with Ivemark syndrome.

Around 60% of right isomerism cases present at birth, and cyanosis is by far the most common presentation. Occasionally, infants with right isomerism present with severe respiratory distress and cyanosis resulting from an obstructed anomalous pulmonary venous connection, as seen in our case. Although phylogenetically the anomalous venous connection of supracardiac variety is common, our case showed an obstructed TAPVC of the infradiaphragmatic type. Patients with right isomerism may occasionally present with serious extracardiac anomalies.[6],[7] There is a high incidence of abnormalities of the renal tract and biliary atresia in isomerism.[8] The spleen may be absent or functionally hypoplastic in right isomerism. Hrusca et al. reported a heterotaxy case with complete right isomerism.[9]

In our case, Bochdalek hernia was also suspected on CT scan, which could not be confirmed by magnetic resonance imaging due to critical state of the patient. When congenital absence of the spleen is diagnosed, there is a lifelong risk of overwhelming infection. Waldman et al.[10] showed a greater frequency of fulminating and fatal septicemia produced by encapsulated bacteria in patients with asplenia syndrome compared with appropriate controls. It is generally recommended that some form of prophylaxis be given for congenitally asplenic patients.

Overall survival estimates were 70% at 1 month, 50% at 1 year, and 35% at 5 years.

Independent risk factors for early mortality included the absence of pulmonary outflow obstruction, presence of major AV valve anomaly, and obstructed pulmonary veins,[3] all of which were present in our case.

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


Conflicts of interest

There are no conflicts of interest.

  References Top

Britz-Cunningham SH, Bailey LL, Fletcher WH. Ivemark syndrome. NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins; 2003. p. 205-6.  Back to cited text no. 1
Kim SJ, Kim WH, Lim HG, Lee JY. Outcome of 200 patients after an extracardiac Fontan procedure. J Thorac Cardiovasc Surg 2008;136:108-16.  Back to cited text no. 2
Hashmi A, Abu-Sulaiman R, McCrindle BW, Smallhorn JF, Williams WG, Freedom RM, et al. Management and outcomes of right atrial isomerism: A 26-year experience. J Am Coll Cardiol 1998;31:1120-6.  Back to cited text no. 3
De Tommasi S, Daliento L, Ho SY, Macartney FJ, Anderson RH. Analysis of atrioventricular junction, ventricular mass, and ventriculoarterial junction in 43 specimens with atrial isomerism. Br Heart J 1981;45:236-47.  Back to cited text no. 4
Kumar S, Kumar A, Singh J, Pal RK. A rare case of situs ambiguous anomaly with right sided isomerism and ventricular septal defect. Imp J Interdiscip Res 2016;2:1282-3.  Back to cited text no. 5
Freedom RM. The asplenia syndrome: A review of significant extracardiac structural abnormalities in 29 necropsied patients. J Pediatr 1972;81:1130-3.  Back to cited text no. 6
Ticho BS, Goldstein AM, Van Praagh R. Extracardiac anomalies in the heterotaxy syndromes with focus on anomalies of midline-associated structures. Am J Cardiol 2000;85:729-34.  Back to cited text no. 7
Kim SJ. Heterotaxy syndrome. Korean Circ J 2011;41:227-32.  Back to cited text no. 8
Hrusca A, Rachisan AL, Lucian B, Oprita S, Manole S, Cainap S, et al. Ivemark syndrome-a rare entity with specific anatomical features. Rev Med Chil 2015;143:383-6.  Back to cited text no. 9
Waldman JD, Rosenthal A, Smith AL, Shurin S, Nadas AS. Sepsis and congenital asplenia. J Pediatr 1977;90:555-9.  Back to cited text no. 10


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