A rare case of situs inversus with dextrocardia, lutembacher syndrome, and pericardial effusion.

Incidence of congenital cardiac anomalies in dextrocardia with situs inversus is low as compared to congenital cardiac anomalies in isolated dextrocardia. We describe the first ever case of situs inversus with dextrocardia, Lutembacher's syndrome, and pericardial effusion. The pericardial effusion in our case was acquired and was tubercular in etiology.

INTRODUCTION

Incidence of congenital cardiac anomalies in dextrocardia with situs inversus is low as compared to congenital cardiac anomalies in isolated dextrocardia. Rheumatic mitral valve stenosis (MS) with dextrocardia and/or situs inversus has been described in the literature. We describe the first ever case of situs inversus with dextrocardia, Lutembacher's syndrome and pericardial effusion.

CASE REPORT

A 40-year-old female presented with complaints of dyspnea and palpitation on exertion since 1 month prior to admission, which had been insidious in onset and progressive. There was no history of orthopnea or paroxysmal nocturnal dyspnea. There was a history of occasional retrosternal chest pain, nonradiating and anginal in character. On examination, she was pale, had a pulse of 88/min, which was regular, with average volume, blood pressure (BP) of 110/80 mm of Hg. Her jugular venous pulse (JVP) was normal; also, there were no signs of congestive cardiac failure (CCF). On cardiovascular examination, the apex was present in the 6th intercostal space (ICS) on the right side, lateral to mid clavicular line; right parasternal heave and diastolic shock were also present. First heart sound was loud and there was a wide, fixed split second heart sound. There was a mid diastolic murmur present at the apex and a systolic murmur present at the right parasternal area at the 3rd–4th ICS. There were no rales or wheeze on auscultation of lungs. There was no hepatomegaly or pedal edema.

A chest X-ray was done which showed a right-sided cardiac shadow with presence of cardiomegaly.

2D echocardiography revealed dextrocardia, situs inversus, concordant atrio-ventricular (AV) connection, large-size (12 mm) ostium secundum type of atrial septal defect (ASD) with bidirectional shunt [Figure 1]; dilated right atrium and ventricle; concordant ventriculo-arterial connection (aorta arises from the left ventricle and pulmonary artery arises from the right ventricle); intact interventricular septum; normal biventricular function; and mild to moderate tricuspid regurgitation. Mitral valve was thick, pliable with commissural fusion and doming of anterior mitral leaflet [Figure 2]. Moderate pulmonary regurgitation was present and mean pulmonary artery pressure was 35 mm of Hg. Mitral valve area was 1.60 cm [Figure 3]. Tricuspid, aortic and pulmonary valve were normal. There was no evidence of patent ductus arteriosus. Total anomalous pulmonary venous connection or coarctation of aorta. Mild to moderate pericardial effusion was present [Figure 4]. The patient also underwent an ultrasound examination of the abdomen which showed liver on the left side, confirming situs inversus [Figure 5].

Figure 1

2D echocardiography showing atrial septal defect of size 12.1 mm

Figure 2

M mode echocardiography of mitral valve showing thickened mitral leaflet with restricted mobility

Figure 3

Mitral valve area calculation by planimetry method on 2D echocardiography

Figure 4

Subcostal view on 2D echocardiography showing pericardial effusion

Figure 5

Ultrasound of abdomen showing liver on the left side

Pericardiocentensis was done. Pericardial fluid was straw colored and had a protein (albumin) content of 3.2 g/dl and showed lymphocytosis consistent with tubercular pericardial effusion. The patient was started on antitubercular treatment.

DISCUSSION

The normal position of heart is situs solitus and levocardia. Levocardia indicates that heart is mainly on the left of chest and its apex points to the left. On the other hand, dextrocardia indicates the heart is mainly on the right and its apex points to the right. Isolated dextrocardia usually displays situs solitus (stomach on left and liver on right). The extent of right rotation of heart in isolated dextrocardia is less than mirror image dextrocardia which is situs inversus.

Situs inversus viscerum is a rare congenital anomaly in which there is general transposition of viscera due to reverse rotation including heart which rotates to the right side called as dextrocardia. In situs inversus, viscera which are normally present on the right side (e.g. liver, appendix, duodenum) are situated on the left, while viscera normally present on the left (e.g. spleen) are situated on the right side.

Incidence of congenital cardiac anomalies in dextrocardia with situs inversus is low as compared to congenital cardiac anomalies in isolated dextrocardia. Total situs inversus itself is an uncommon condition. On review of literature, the incidence approximately appears to be 1:10,000.[1] Situs inversus with dextrocardia is a type of cardiac malposition most likely to exist with structurally normal heart. The common congenital cardiac anomalies associated with dextrocardia with situs inversus are atrial situs solitus (93%), discordant AV connection (44%), and discordant ventriculo-atrial (VA) connection (30%). The most anomalies were congenital corrected transposition of great arteries (C-TGA) (33%).[2]

There have been numerous reports[3-7] till date describing the presence of rheumatic MS with dextrocardia and/or situs inversus. The rheumatic MS in cases of dextrocardia and /or situs inversus poses a challenge in surgical management, especially percutaneous procedures.

Rene Lutembacher (1884–1936), a French cardiologist, described Lutembacher's syndrome in 1916. Another reference of Lutembacher's syndrome was made in 1865 when Martineau reported the first case.[8] Perloff in 1970 did a contemporary reappraisal and suggested the MS to be rheumatic in origin.

Lutembacher's syndrome is a rare combination of congenital ostium secundum ASD with acquired MS, which is usually rheumatic. This rare cardiac anomaly is complicated and difficult to diagnose clinically. The hemodynamics of the disease is dependent upon the size of ostium secundum defect, severity of MS and compliance of right ventricle, which poses a clinical challenge for bedside diagnosis. Double exit of blood in cases of MS with ASD alters the typical hemodynamic of severe MS by decreasing the left atrial (LA) pressure.[9]

First case of Lutembacher's syndrome with dextrocardia was reported in 1950 by Irving Innerfield et al. after cardiac catheterization.[10] In 1958, Rowell et al. described another case of isolated dextrocardia with Lutembacher's syndrome which was also confirmed by post-mortem.[11]

There have been numerous references of cases of rheumatic heart disease with dextrocardia since 1911. Owen described the first case of rheumatic MS with dextrocardia with situs inversus.[12]

Till date, we could not find a reference of situs inversus with dextrocardia with Lutembacher's syndrome. Our case may be the first of its kind.

Pericardial disease as an association with congenital heart disease is rare. In 1968, Just and Mattingly reported four cases of ASD with pericardial disease, after reviewing 63 cases following an extensive search of literature. In 1970, Malhotra et al. described a case of tuberculous pericarditis complicating congenital dextrocardia with situs inversus.[13]

Our case describes the presence of situs inversus with dextrocardia, Lutembacher's syndrome, and pericardial effusion. It is needless to say that the pericardial effusion in our case was acquired and was tubercular in etiology.

Mitral valvotomy has been used for the treatment of MS along with dextrocardia since 1974.[14] In one instance, a successfully closed commisurotomy was performed in a case of pregnant woman with dextrocardia, situs inversus and severe MS.[15] In 1993, Raju et al. demonstrated that trans-septal catheterization can be accomplished safely in patients with structural cardiac abnormalities and that mitral valvoplasty can be done successfully in patients with mirror image dextrocardia and rheumatic MS.[16]