Uhl's disease: An uncommon presentation of a rare disease.

Uhl's disease, also known as Uhl anomaly, is a rare disease secondary to selective but uncontrolled apoptosis of right ventricular myocytes during the perinatal period, after complete cardiac development, leading to the absence of right ventricular myocardium and the direct apposition of endocardium to epicardium without a myocardial layer in between, resulting in right ventricular failure. The present paper describes a case of Uhl's disease with an uncommon presentation. A 28-year-old man was admitted with dyspnea and cyanosis. Transthoracic echocardiography showed severe dilation of the right chambers, impaired right ventricular systolic function and a large ostium secundum atrial septal defect (ASD). Cardiac catheterization revealed pulmonary hypertension, with increased pulmonary capillary wedge pressure (mean 19mmHg) and Qp:QS 0.88:1. At this point, the authors considered that a main diagnosis of ASD could not explain the clinical features and hemodynamic data. A primary disease of the right ventricle was the most likely hypothesis and cardiac magnetic resonance imaging was performed, which demonstrated an extremely thin-walled right ventricle, with almost complete absence of right ventricular free wall myocardium, compatible with Uhl's disease.

Unexpected triggers for pheochromocytoma-induced recurrent heart failure.

Pheochromocytoma crisis typically presents as paroxysmal episodes of headache, tachycardia, diaphoresis or hypertension. We describe an uncommon case of recurrent non-hypertensive heart failure with systolic dysfunction in a young female due to pheochromocytoma compression. It presented as acute pulmonary oedema while straining during pregnancy and later on as cardiogenic shock after a recreational body massage. Such crisis occurring during pregnancy is rare. Moreover, of the few reported cases of pheochromocytoma-induced cardiogenic shock, recreational body massage has not yet been reported as a trigger for this condition.

Stenosis of the branches of the neopulmonary artery after the arterial switch operation: A cardiac magnetic resonance imaging study.

BACKGROUND: The neonatal arterial switch operation (ASO) is now the standard of care for children born with transposition of the great arteries. Stenosis of the neopulmonary artery on long-term follow up is a known complication. METHODS: We performed a retrospective analysis of eleven patients who underwent a cardiac magnetic resonance imaging (MRI) due to echocardiographic evidence suggestive of stenosis of the neopulmonary artery or its branches (mean estimated Doppler gradient 48 mmHg, min 30 mmHg, max 70 mmHg). A comprehensive evaluation of anatomy and perfusion was done by cardiac MRI. RESULTS: The branches of the neopulmonary artery (neo PA) showed decreased caliber in three patients unilaterally and in two patients, bilaterally. Magnetic resonance (MR) perfusion studies showed concomitant decreased flow, with discrepancy between the two lungs of 35/65% or worse, only in the three patients with unilateral obstruction, by two different MR perfusion methods. CONCLUSIONS: Cardiac MR can be used as a comprehensive non-invasive imaging technique to diagnose stenosis of the branches of the neopulmonary after the ASO, allowing evaluation of anatomy and function of the neoPA, its branches, and the differential perfusion to each lung, thus facilitating clinical decision making.

Persistent low grade synovitis without erosive progression in magnetic resonance imaging of rheumatoid arthritis patients treated with infliximab over 1 year.

Disease remission is only reached by a minority of rheumatoid arthritis (RA) patients treated with infliximab. Radiological assessment reported in clinical trials support the view that even under persistent inflammatory activity there is no further structural damage. Magnetic resonance imaging (MRI) allows a highly accurate detection of synovitis, bone edema, and erosions, constituting the ideal instrument for the evaluation of treatment response. The goal of this study was to evaluate MRI changes over 1 year in RA patients treated with infliximab. Four RA patients refractory to methotrexate (MTX) therapy were treated with infliximab 3 mg/kg 8/8 weeks and followed up for 1 year. Disease Activity Score (DAS28) was measured in the day of each infliximab administration. MRI was performed at baseline, 3 months, and 1 year. A simplified OMERACT RA MRI scoring (RAMRIS) was applied to the dominant wrist: synovitis (0-3) was measured in the intercarpal-carpometacarpal joints (CMTJ); bone edema (0-39) and erosions (0-130) in the base of the metacarpal and wrist bones. Baseline DAS28 was superior to 3.2 in all patients (ranging from 4.8 up to 6.2). At 14 weeks, DAS28 was still superior to 3.2 (ranging from 3.5 up to 4.6) and at 46 weeks all patients have responded, however without having achieved clinical remission, as DAS28 was still above 2.6 (ranging from 2.6 up to 3.4). MRI showed that synovitis was reduced in all patients to a score of 1, bone edema was slightly reduced (10% reduction), and erosive score was unchanged (baseline values ranging from 2 up to 20). Despite persistent low disease activity, these four RA patients treated with infliximab had stable simplified RAMRIS erosive scores over 1 year. These results support the view that there might be an uncoupling process between inflammation and bone erosions when tumor necrosis factor alpha is targeted in RA.

Magnetic resonance imaging of cardiac masses.

INTRODUCTION: Cardiac magnetic resonance imaging plays a pivotal role in the diagnostic workup of cardiac masses. In many cases it is possible to arrive at a likely diagnosis, while features suggestive of a conclusive diagnosis are detected in a small number of cases. METHODS: An internal audit of all patients referred with a cardiac mass detected on echocardiography was conducted for the period 2004-2007. Twenty-two cases were identified and MR characteristics including localization, tissue characteristics, primary nature versus secondary deposits and extracardiac features were studied. RESULTS: Six masses were intramyocardial, eleven were intracavitary and three were extraeardiac in localization. A highly probable diagnosis was possible in fourteen cases including six primary tumors, three extracardiac tumors, three secondary deposits and two thrombi. CONCLUSION: A highly probable diagnosis was possible in half of our patients with cardiac masses on echocardiography referred for cardiac magnetic resonance imaging in the p receding three-year period. It was also possible to determine localization, extent of disease and relation to adjacent structures.

The right ventricular outflow tract in patients with suspected arrhythmogenic right ventricular cardiomyopathy referred for cardiac magnetic resonance imaging.

OBJECTIVES: To determine if right ventricular outflow tract dilatation occurs in patients with a clinical suspicion of arrhythmogenic right ventricular dysplasia. METHODS: Fifty patients referred to us with a clinical suspicion of arrhythmogenic right ventricular dysplasia underwent cardiac magnetic resonance imaging. The area of the right ventricular outflow tract was estimated in 29 patients. RESULTS: Out of the 29 subjects, eight had cardiac magnetic resonance findings suggestive of arrhythmogenic right ventricular dysplasia. The mean area of the right ventricular outflow tract in these eight patients was significantly larger compared to normal controls without cardiac pathology. CONCLUSION: The right ventricular outflow tract was enlarged in patients with cardiac magnetic resonance findings suggestive of arrhythmogenic right ventricular dysplasia. Routine assessment of this parameter should be considered in cardiac magnetic resonance imaging studies.

A case of stress cardiomyopathy --the mid-ventricular variant.

A 66-year-old female presented with symptoms and signs of acute myocardial infarction after an episode of intense emotional stress. A coronary angiogram revealed coronary arteries without significant lesions, and hyperkinetic basal and apical segments with an akinetic mid-ventricular segment on the ventriculogram. Ten days after discharge, she underwent a cardiac magnetic resonance (CMR) study which revealed complete resolution of the wall motion abnormality. After gadolinium contrast, no delayed enhancement patterns typical of either myocardial infarction or myocarditis were observed. This suggested a diagnosis of the recently described mid-ventricular variant of stress cardiomyopathy.

Magnetic resonance imaging findings in suspected arrhythmogenic right ventricular dysplasia.

INTRODUCTION: Cardiac magnetic resonance imaging (CMRI) has been used to evaluate right ventricular morphology in suspected arrhythmogenic right ventricular cardiomyopathy (ARVC). We report qualitative CMRI findings in patients with suspected ARVD. METHODS: A retrospective review of images in 35 patients referred for CMRI with clinically suspected ARVD. RESULTS: Eleven patients were considered to have alterations on CMRI. In 5 patients a dilated outflow tract and/or right ventricle was identified; a high intramyocardial T1 fat signal was identified in one patient, regional dyskinesia in two patients, and small excavated pouches in 4 patients. Prominent right ventricular trabeculae were present in 4 patients. CONCLUSIONS: CMRI alterations used for diagnosis of ARVC were identified in approximately one-third of patients referred to our center with either clinical suspicion or diagnosis of ARVC.