Bland-White-Garland syndrome in an adult

We report about a 47-year-old woman, who presented with a history of cardiac failure. Echocardiography showed an impaired left ventricular function, clinically significant mitral regurgitation and pulmonary hypertension. Diagnosis of a Bland- White-Garland syndrome was made by coronary angiography. Subsequent therapy consisted of ligation of the anomalus origin of the left coronary artery, implantation of a Mammaria interna graft to the left coronary artery and replacement of the mitral valve by a mechanical prosthesis. One year after operation, left ventricular function was still impaired. At a 3-year follow-up, left ventricular function improved continuously.     

Thallium-201 myocardial scintigraphy in patients with Wolff-Parkinson-White syndrome

Wolff-Parkinson-White syndrome (WPW) is known to cause abnormal rest electrocardiogram and stress test. Thallium-201 myocardial scintigraphy has been particularly indicated for the noninvasive evaluation of coronary artery disease in these patients. The study group consisted of 11 WPW patients with abnormal ST-segment depression at rest electrocardiogram and/or stress test, with the absence of signs or symptoms of coronary artery disease. All the patients underwent exercise thallium-201 imaging associated with stress test by bicycle ergometer: 7 of them had ST-segment depression, but without other signs or symptoms of coronary artery disease. Transient and moderate myocardial perfusion defects were found in 5 of 11 patients. Perfusion defects in patients with WPW could derive from dyssynergy of ventricular activation, which could modify myocardial perfusion scintigraphy despite the absence of angiographic coronary stenosis. Previous reports and our data concluded that transient perfusion defects during exercise thallium-201 testing in WPW patients without cardiovascular disease may be observed. Thus, thallium-201 myocardial scintigraphy could present some limitations as a helpful adjunctive method for assessment of coronary artery disease in WPW patients.     

Levosimendan-long-term inodilation in an infant with myocardial infarction

An infant with myocardial infarction due to congenital stenosis of the left coronary artery with consecutive left ventricular dysfunction and mitral regurgitation developed refractory pulmonary hypertension (PHT) and recurrent PHT crises. Catecholamines to support cardiac function, or pulmonary vasodilators like inhaled nitric oxide showed no effect. Treatment with Levosimendan (Simdax), a new inodilator, combining both inotropic and pulmonary vasodilating effects, improved left ventricular dysfunction, increased cardiac index, decreased pulmonary vascular resistance and reduced frequency and extent of the PHT crises. This case may suggest the use of Levosimendan as a long-term inotropic agent and pulmonary vasodilator in children with depressed cardiac function.     

The Bland-White-Garland syndrome in adult age]

The clinical and post-mortem findings in a 59-year-old female patient with an anomalous origin of the left coronary artery are described. This case in the age over fifty is the fourth to be published. The clinical picture was characterized as an antero-lateral myocardial infarction with disturbances of the conduction and with a mitral insufficiency. At autopsy fibrotic areas resulting from myocardial infarction were found in the ventricular septum and in the anterior as well in the posterior muscular wall of the heart. The histological alterations of the arterial wall suggested that the function of the central part of the left coronary artery was that of a vene, while the peripheral parts served as arterio-venous anastomoses. The occurrence of this anomaly in our autopsy material was 0.1 0/00. The pathophysiology is discussed.     

Magnetic resonance studies in management of adult cases with Bland-White-Garland syndrome

Bland-White-Garland syndrome (BWG) is a rare congenital anomaly that is predominantly discovered in infancy. BWG is characterized by an anomalous origin of the left coronary trunk from the pulmonary artery that produces a coronary steal phenomenon, left-to-right shunt, and thus an abnormal left ventricular perfusion. The latter may induce myocardial necrosis, left ventricular dysfunction and commonly associated with mitral regurgitation. Despite its high mortality without surgical repair in infancy, several cases were reported to reach adulthood. In some patients, however, BWG was revealed only in older age, and may cause mild symptoms. Recent developments in cardiovascular MRI enable the determination of heart function, viability and perfusion with high resolution. We present three middle-aged female BWG cases indicating that MRI studies may give further insight into the therapeutic decision making in this age-group.     

Acute myocarditis in Lyme's syndrome. Value of myocardial scintigraphy with gallium 67

The authors report the case of a 35 year old man with no known previous cardiac disease. One month after a tic bite causing diffuse abdominal erythema, he was admitted to hospital with fever, breathlessness and bradycardia. The electrocardiogramme showed first degree atrioventricular block with a sinoatrial block (SA = 200 ms, AH = 240 ms). Echocardiography eliminated the diagnosis of pericardial effusion. Thallium 201 myocardial scintigraphy was pathological and showed irregular global uptake suggesting cardiomyopathy. Gallium 67 scintigraphy showed increased uptake in the left ventricle. The evolution was uncomplicated with normalisation of clinical, ECG and radiological changes. Cardiac catheterisation and angiography eliminated ischaemic and primary cardiomyopathy. Control radionuclide investigations were normal at one month: there was no persistent abnormal Gallium uptake. The diagnosis of Lyme's syndrome was confirmed by positive serology with successive titres of 1/1024 and 1/2048 (significant at titres over 1/256). This unusual case illustrates: the risk of myocardial disease in Lyme's syndrome; the diagnostic value of Gallium 67 scintigraphy in acute myocarditis: Gallium seems to fix specifically on inflamed tissues, so distinguishing myocarditis from primary cardiomyopathies.     

Necrotizing enterocolitis in an infant with Omenn syndrome.

Omenn syndrome (OS) is a rare disorder within the combined immunodeficiency family that is characterized by a diffuse exudative, erythematous rash, lymphadenopathy, hepatosplenomegaly, alopecia, and failure to thrive. Specific lab findings unique to OS include hypereosinophilia, elevated IgE, excess production of oligoclonal T-cells and near-to-absent B-cells. Much remains elucidated about the underlying genetic cause of OS. Until recently, it was felt that the disease was primarily caused by mutations of the RAG1 or RAG2 genes. The type of mutation of the RAG1 and RAG2 genes in patients with OS affects the degree of functioning variable (diversity) joining [V(D)J] recombination activity, which is critical to the development of lymphoid cell receptor diversity. New work has also shown that thymic tissue in OS patients demonstrates a severe defect in the expression of the autoimmune regulator element. This may contribute to the development of autoreactive T-cells that are felt to be the causative agent of a number of the clinical hallmarks unique to OS. The genetic spectrum of OS was further expanded when a patient with clinical and immunologic features consistent with OS, without RAG mutation, was found to have mutations in both alleles coding for ARTEMIS, a key V(D)J recombination/DNA repair factor. Regardless of the underlying cause, early recognition is critical because patients die at a very young age without bone marrow transplantation. We describe an infant diagnosed with OS post-mortem in which death was directly related to the development of necrotizing enterocolitis.     

Infection-associated haemophagocytic syndrome in an infant

We describe the case of an infant with haemophagocytic syndrome initiated by severe infection. The difficulties of diagnosing and managing the condition as well as its pathogenesis are discussed.     

Prognostic role of stress/rest myocardial perfusion scintigraphy in patients with cardiac syndrome x

Aim

The prognostic utility of myocardial perfusion scintigraphy (MPS) in patients with angiographically normal coronary arteries has not been evaluated yet. Our aim was to determine the prognostic role of positive MPS in patients with angina, positive exercise test and smooth coronary arteries (syndrome X).

Methods

A total of 156 patients with angina, positive exercise test, positive MPS and normal coronary arteries and 172 patients with angina and positive exercise test who had negative MPS were selected for study. The primary endpoint was combined all-cause mortality and hospitalizations for cardiac causes. The secondary endpoint was hospitalization for cardiac causes.

Results

Kaplan–Meier analysis showed a greater (p = 0.001) incidence of the primary endpoint in patients with positive MPS, compared to those with negative MPS. Additionally, Kaplan–Meier analysis for cardiovascular hospitalization showed a significant difference (p = 0.003) between the two groups. Cox regression analysis, adjusted for age, sex, BMI and antianginal therapy confirmed a significant risk increase for patients with positive MPS, with a hazard ratio (HR) = 3.20 (CI 95%: 1.14–9.02; p = 0.028). Cox analysis for cardiovascular hospitalization also showed a significant risk increase for patients with positive MPS (HR = 3.19; CI 95%: 1.13–9.00; p = 0.03). Finally, Cox analysis showed that patients with positive MPS tend to have a higher risk to remain symptomatic in the follow-up period (HR = 1.614; CI 95%: 0.999–2.607; p = 0.51).

Conclusions

This study shows that inducible myocardial hypoperfusion at MPS in patients with syndrome X could discriminate patients with a more severe prognosis, especially in terms of further hospitalization and symptomatic burden.     

A novel mtDNA deletion in an infant with Pearson syndrome

Summary Pearson syndrome is a multisystem mitochondrial disorder of infancy that is associated with deletions in the mitochondrial DNA (mtDNA) genome. We report a study on a male infant with Pearson syndrome. Assessment of oxidative phosphorylation activity indicated combined respiratory-chain defects in muscle, liver and fibroblasts; in particular, activity of complex I was reduced. Analysis of the patient's mtDNA identified a novel heteroplasmic 2.461 kb deletion, present at levels greater than 50% of the total mtDNA in the tissues examined. The deletion spanned nucleotides 10368 to 12828 and was flanked by a 3 bp GCC direct repeat sequence. Gene sequences affected are subunits 3, 4, 4L and 5 of complex I, and tRNAs for arginine, histidine, serine and leucine. Our findings correlate with the multiorgan involvement observed in Pearson syndrome.