Uhl's Anomaly: A Rare Case of Portal Hypertension.

Uhl's anomaly is a rare congenital heart disease characterized by partial or complete absence of the right ventricular myocardium and high early mortality rates. We describe a case of Uhl's anomaly in a 27-year-old young male patient presenting with portal hypertension and esophageal varices. In this article, we review the literature associated with this condition and highlight a rare presentation of a rare disease. This report adds to our current knowledge of this exceedingly rare disorder.

INTRODUCTION

Uhl's anomaly is a rare cardiac anomaly with absent myocardial layer of the right ventricle (RV), with apposition of the right ventricular endocardium and epicardium. It is associated with high mortality and is typically diagnosed in the prenatal period or in children.

We describe a case of Uhl's anomaly who presented to us with unrelated symptoms of gastrointestinal bleeding which were subsequently diagnosed to be due to portal hypertension secondary to cardiac cause. The patient was managed conservatively.

In this article, we review the literature associated with this condition and highlight a rare presentation of a rare disease. This report adds to our current knowledge of Uhl's anomaly.

CASE REPORT

A 27-year-old male patient presented to the Medicine Inpatient Department with progressive distention of the legs and abdomen for 2 years. Later, he had had multiple episodes of upper gastrointestinal bleeding in the form of melena. He had no history of alcohol intake and was sexually inactive. He had no past history of jaundice, tuberculosis, or renal disease. There was no family history of similar illness.

Clinical examination was significant for mild pallor, mild icterus, bipedal pitting edema, and engorged neck veins. Pulse was 68 beats/min and regular. Blood pressure was 104/68 mmHg. Abdominal examination revealed marked ascites with moderate splenomegaly and a firm enlarged liver with palpable left lobe. Cardiac examination revealed a laterally shifted diffuse apical impulse with soft first heart sound and pansystolic murmur of tricuspid regurgitation.

Routine investigations revealed: hemoglobin 8.7 g/dL, total leukocyte count 6700/cumm (neutrophils 65%, lymphocytes 27%, monocytes 3%), and platelet count 80,000/cumm.

Liver function tests revealed: bilirubin 4 g/dL (direct fraction 2.4 g/dL), aspartate aminotransferase 120 U/L, alanine aminotransferase 208 U/L, serum albumin 3.7 g/dL, and serum globulin 4 g/dL.

Renal function tests revealed: serum urea 48 mg/dL creatinine 0.9 mg/dL. Serum markers for hepatitis B surface antigen, hepatitis C antibody, and HIV antibodies were negative.

Ascitic fluid analysis revealed ascitic fluid albumin 2.6 g/dL (serum ascites albumin gradient: 1.1) and total cell count 240 cells/cumm with 70% mononuclear cells. Cytological examination for malignancy was negative.

An upper gastrointestinal endoscopy revealed moderate-large varices which were ligated. An ultrasonography of the abdomen revealed splenomegaly, enlarged liver with coarse echotexture and dilated hepatic vein [Figure 1], and 3+ ascites.

Figure 1

Ultrasonography of the abdomen showing hepatomegaly with coarse echotexture and dilated hepatic vein

A chest X-ray revealed cardiomegaly [Figure 2]. Echocardiography revealed massively dilated right atrium (RA) and RV with spontaneous echo contrast in RA.

Figure 2

Chest X-ray posteroanterior view showing cardiomegaly

A cardiac magnetic resonance imaging (MRI) revealed: free flow of blood between RV and RA in systole, an unduly dilated and akinetic right ventricular outflow tract, an “ironed out” RV wall without evidence of any trabeculation, and RV ejection fraction 15%. RV and RA were massively dilated with akinesia/dyskinesia of RV wall, except the apex [Figures 3 and 4]. There was significant tricuspid regurgitation and mild pulmonary regurgitation. These findings were consistent with partial Uhl's anomaly. The patient did not give consent for a liver or endomyocardial biopsy.

Figure 3

Magnetic resonance imaging showing absent right ventricular myocardium

Figure 4

Magnetic resonance imaging consistent with Uhl's anomaly

The patient was managed conservatively with salt restricted diet and diuretics.

DISCUSSION

Uhl's anomaly is a rare form of congenital heart disease (CHD) characterized by a partial or complete absence of the right ventricular myocardium, a normal tricuspid valve, and preserved septal and left ventricular myocardium.[1] Probably first described by Osler as “parchment heart” in 1905,[2] the anomaly is named after Henry Uhl, who reported a case in 1952.

Lack of proper literature and the rarity of the condition have led to many different names for the disease including right ventricular ectasia, congenital right ventricular myocardial aplasia, fat infiltration or lipomatosis, right ventricular idiopathic myocardial dysplasia, and right ventricular myocardial absence.

The exact incidence of this exceedingly rare condition is not known, but 84 reported cases were identified till 1993.[3] Median age of death at 15 years equal affection of both sexes has been reported. Most cases end fatally in infancy or childhood. However, adult Uhl's has also been rarely described.[4] Case presentations have varied from prenatal diagnoses[56] to nonparoxysmal atrioventricular junctional tachycardia with Mobitz I block in adults[7] to asymptomatic presentations.[4]

The exact cause of Uhl's anomaly is unknown, but primary nondevelopment of myocytes, selective apoptosis, and overexpression of vascular endothelial growth factor by cardiomyocytes have been reported.[89]

Traditionally, the diagnosis has been established postmortem on autopsy specimens. However, with advancing medical technology, diagnosis can be made on the basis of clinical findings and imaging studies, most commonly a cardiac MRI.[1011]

There are several unique aspects to our case:First, Uhl's anomaly in itself is a rare anomaly. Second, portal hypertension secondary to Uhl's anomaly has so far not been reported in literature. Third, despite the high mortality of the condition, our patient was considerably stable for years with the disease. Fourth, the role of imaging for the diagnosis of Uhl's anomaly has been reiterated. And finally, cardiac cirrhosis though rare may be a pointer toward this rare disease. This report adds to the little knowledge we have on this rare condition.

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Conflicts of interest

There are no conflicts of interest.