Heterotaxy Syndrome With Severe Pulmonary Hypertension in an Adult

Vincent M. Brandenburg, MD, Stefan Krueger, MD, Patrick Haage, MD, Peter Mertens, MD, Jochen Riehl, MD


South Med J. 2002;95(5) 

In This Article

Case Report

A 31-year-old previously healthy white man was admitted to the hospital with progressive, atypical chest pain and shortness of breath on exertion. Personal and family history were otherwise unremarkable. His blood pressure, temperature, and pulse rate were normal, and physical examination revealed no abnormalties. Routine laboratory values were in the normal range. The electrocardiogram (ECG) showed signs of right ventricular hypertrophy with right bundle branch block, positive Sokolow-Lyon index (2.1 mV), and S1Q3 pattern. Chest radiograph showed dilated central pulmonary arteries and abnormal proximal-to-distal tapering of the pulmonary arteries. Arterial blood gas analysis was normal. Lung diffusion capacity was shown to be 62.9% of normal when tested with carbon monoxide; otherwise, results of pulmonary function tests were normal. Transthoracic and transesophageal ECGs demonstrated a dilated right ventricle and atrium, right ventricular concentric hypertrophy, and a persisting left superior vena cava, which drained into the dilated coronary sinus (Fig 1). The presence of left-right cardiac shunting was excluded by injection of saline echo contrast medium. Left ventricular function and heart valves were normal. The patient had an invasive cardiac diagnostic procedure. Left-sided cardiac catheterization, including coronary angiography, was normal. Right heart catheterization proved severe pulmonary arterial hypertension, with pulmonary artery pressure of 78/30 mm Hg (mean systolic pressure of 53 mm Hg), pulmonary capillary wedge pressure of 14 mm Hg, and an excessively elevated pulmonary vascular resistance (PVR) of 369 dyne·sec·cm-5. Neither application of nasal oxygen nor treatment with intravenous nitroglycerin resulted in a significant decrease in PVR. Pulmonary magnetic resonance angiography showed prominent central pulmonary arteries with abnormal proximal-to-distal tapering of the pulmonary arteries, but no sign of acute or chronic pulmonary embolism. Lung lobulation was normal. Interstitial pulmonary disease was ruled out by spiral computed tomography (CT), and no evidence of secondary pulmonary hypertension was present.

Venous phase of maximum intensity projection (MIP) of Tl-weighted 3D gradient-echo sequence in coronal-slice orientation. ACI = arteria carotis interna; AO = aorta; TrP = truncus pulmonalis; SC = sinus coronarius; VCS = left vena cava superior.

Spiral CT of the abdomen showed situs ambiguus, with the liver in midline position, and a small, hypoplastic spleen (3 cm) in the right upper abdomen (Fig 2). The small intestine was located almost completely in the right abdomen. Abdominal angiography revealed complex vascular malformations, with aneurysms of the right and left renal artery, drainage of the inferior mesenteric vein into the superior mesenteric vein, and from there into the inferior vena cava. The portal vein and hepatic veins were hypoplastic. Peripheral blood smear showed numerous Howell-Jolly bodies. Blood ammonia levels were consistently elevated, up to 130 mmol/L (normal 15-60 µmol/L). No reason for the portal hypertension was found; a liver biopsy specimen showed normal histology. The diagnosis of heterotaxy syndrome with severe pulmonary hypertension was, therefore, established.

Contrast-enhanced helical computed tomography shows transaxial image at upper abdominal level Features of abdominal heterotaxy at this level include hypoplastic spleen in right upper abdomen (S), liver (L), and gallbladder (GB) in and left of midline. Small intestine (SI) projects into right hemiabdomen. Notice inferior vena cava (VCI) left of and ventral to descending aorta (AO).

Symptomatic treatment with diltiazem hydrochloride led to gradual improvement of dyspnea. The patient remained clinically stable throughout a 1-year follow-up period, though pulmonary pressure and cardiac function parameters did not change significantly.


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