End-stage cardiac manifestations and autopsy findings in patients with cardiac fabry disease

BACKGROUND: Fabry disease is an X-linked recessive disorder resulting from a deficiency of alpha-galactosidase A with multi-organ dysfunction. Patients with manifestations limited to the heart have been reported recently as a disease variant. We have previously reported a 3% prevalence of this cardiac variant in men with left ventricular hypertrophy, which we designated cardiac Fabry disease. The purposes of the current study were to evaluate the end-stage cardiac manifestations and autopsy findings in patients with cardiac Fabry disease. METHODS and RESULTS: We evaluated five autopsied male patients with cardiac Fabry disease. One died of ventricular fibrillation and four of heart failure. Electrocardiograms obtained at hospitalization revealed the presence of conduction abnormalities and nonsustained ventricular tachycardia. Echocardiograms and autopsy findings showed the presence of left ventricular hypertrophy in all patients. Localized thinning of the basal posterior wall of the left ventricle was detected in four patients who died of heart failure. All patients had severe left ventricular dysfunction. Histologically, myocardial cells showed glycosphingolipid accumulation in all of the patients but no accumulation was observed in other organs or in systemic vascular endothelial cells. CONCLUSIONS: Severe left ventricular dysfunction, conduction disturbances and ventricular arrhythmias occur in end-stage cardiac Fabry patients. Furthermore, left ventricular hypertrophy commonly associated with thinning of the base of the left ventricular posterior wall is present. The accumulation of glycosphingolipids can be observed in myocardial cells but not in other organs.     

Polymyositis with tubular aggregates

We report a patient with classic idiopathic polymyositis who had tubular aggregates on muscle biopsy. Tubular aggregates are distinctly rare in polymyositis although seen in a variety of other muscle disorders including myopathies associated with muscle cramping. Our patient did not have muscle cramps or severe myalgia. Moreover, the patient's disease responded to steroids, indicating that tubular aggregates were not a marker for steroid resistance. The function of the tubular aggregates in this disease is not clear.     

Dermatological manifestations of cardiac conditions

Various cardiac disorders seen in general and acute medicine have dermatological manifestations that may provide critical clues to the underlying disease. This review will discuss the important dermatological signs seen in cardiac conditions. We believe greater interdisciplinary liaison will improve our understanding of the link between the dermatological and cardiovascular systems and the underlying disease processes.Key words: cardiac, dermatological, examination, infective endocarditis, leopard syndrome, xanthoma     

Polymyositis associated with jejunoileal bypass

We report a patient with polymyositis who had a functioning jejunoileal bypass. Although many connective tissue syndromes have been reported with small bowel bypass, the association of polymyositis is unusual even though similar pathogenetic mechanisms might be involved.     

Polymyositis presenting with respiratory failure

Polymyositis is a systemic autoimmune disorder characterised by inflammatory myopathy of the skeletal muscles predominantly affecting the proximal muscles and associated with extra-muscular manifestations like dysphagia and skin involvement. In this case report, we describe the occurrence of diaphragmatic weakness and respiratory failure due to polymyositis with relatively well preserved power in limb muscles.     

Polymyositis and dermatomyositis

The inflammatory myopathies, commonly described as idiopathic, are the largest group of acquired and potentially treatable myopathies. On the basis of unique clinical, histopathological, immunological, and demographic features, they can be differentiated into three major and distinct subsets: dermatomyositis, polymyositis, and inclusion-body myositis. Use of new diagnostic criteria is essential to discriminate between them and to exclude other disorders. Dermatomyositis is a microangiopathy affecting skin and muscle; activation and deposition of complement causes lysis of endomysial capillaries and muscle ischaemia. In polymyositis and inclusion-body myositis, clonally expanded CD8-positive cytotoxic T cells invade muscle fibres that express MHC class I antigens, which leads to fibre necrosis via the perforin pathway. In inclusion-body myositis, vacuolar formation with amyloid deposits coexists with the immunological features. The causative autoantigen has not yet been identified. Upregulated vascular-cell adhesion molecule, intercellular adhesion molecule, chemokines, and their receptors promote T-cell transgression, and various cytokines increase the immunopathological process. Early initiation of therapy is essential, since both polymyositis and dermatomyositis respond to immunotherapeutic agents. New immunomodulatory agents currently being tested in controlled trials may prove promising for difficult cases.     

Pulmonary and cardiac manifestations of polymyositis-dermatomyositis.

Polymyositis-dermatomyositis (PM-DM) is an inflammatory disease of muscle and skin mediated by autoimmune and cellular events. Most typically, muscle weakness is the usual presentation. This review emphasizes that often the systemic components of this disease may mask the usual presentation and actually may be the presenting and only manifestations; more often than not they are the causes of increased morbidity and mortality. In particular, the cardiopulmonary manifestations may dominate the disease course. Cardiac complications include congestive heart failure resulting from a primary cardiomyopathy, disrhythmias and atrioventricular conduction disturbances, sick sinus syndrome, and cor pulmonale either secondary to interstitial lung disease (ILD) or primary pulmonary artery hypertension. Recurrent aspiration pneumonia results from pharyngeal muscle involvement by the myositic process. Several histologic patterns of ILD can emerge with varying outcomes and responses to immunosuppresive therapy. Involvement of the muscles of respiration can lead to hypercapnic respiratory failure, diaphragmatic dysfunction, hypostatic pneumonia, and restrictive lung disease.     

Epidemiology and clinical manifestations of cardiac amyloidosis

Heart Failure Reviews - Cardiac amyloidosis, once considered a rare disease, has garnered significant attention over the last few years due to three key reasons: first, increased...     

Clinical manifestations and survival of patients with hepatocellular carcinoma and cardiac metastasis

Background and Aim:  Antemortem diagnosis of hepatocellular carcinoma (HCC) with cardiac metastasis is uncommon. To clarify the clinical manifestation and survival of HCC patients with cardiac metastases, we initiated the present study.
Methods:  We retrospectively analyzed 48 HCC patients with metastases into cardiac cavity diagnosed antemortem. The baseline clinical characteristics, echocardiogram, treatment modality and the outcome data were collected.
Results:  The most common symptoms of cardiac metastasis included asymptomatic in 19 cases (39.5%), bilateral lower leg edema in 18 cases (37.5%) and exertional dyspnea in 15 cases (31.3%). The median and mean survival times from the time of diagnosis of cardiac metastasis were 102 days and 161 days, respectively. Compared with another cohort of 48 patients with age-, gender-, and stage-matched HCC patients without cardiac metastasis, the median survival in the cardiac metastasis group was similar to the control group (68 days) ( P  = 0.67). The cause of death was HCC in 29, hepatic failure in seven, multiple organ failure in four, gastrointestinal bleeding in three, sepsis in two, pulmonary embolism in one, respiratory failure in one, and acute myocardial infarction in one.
Conclusions:  Hepatocellular carcinoma patients with cardiac metastases were in the advanced stages. These patients had limited survival from the diagnosis of cardiac metastases. The most common cause of death was related to HCC per se or the underlying liver disease. Only a few patients expired because of cardiac metastases.     

Polymyositis and hepatocellular carcinoma

We report a patient with recent onset of acute polymyositis who was subsequently found to have a hepatocellular carcinoma, a rare uncommonly associated malignancy.     

Unusual cardiac manifestations in a patient with myotonic muscular dystrophy

We report on a patient with myotonic muscular dystrophy in whom mitral valve prolapse associated with prolonged PR interval and left anterior hemiblock was documented 3 years before any clinical evidence of myotonia, muscle weakness or wasting. One year after diagnosis had been established, he developed atrial flutter with 1:1 atrioventricular conduction, an arrhythmia that in addition to complete heart block and ventricular arrhythmias may account for the occurrence of syncope and sudden death in this group of patients.     

Malignant lymphoma with various cardiac manifestations: a case report

A 49-year-old woman presented with malignant lymphoma manifesting as dyspnea, palpitation and leg edema. Chest radiography demonstrated cardiomegaly, electrocardiography(ECG) showed first degree atrioventricular block, and echocardiography showed concentric left ventricular hypertrophy with granular sparkling texture and mild pericardial effusion. The diagnosis was malignant lymphoma(B-cell) based on lymph node biopsy. Chemotherapy(CHOP) was performed under a suspected diagnosis of cardiac invasion of malignant lymphoma. Immediately after chemotherapy, ECG showed complete atrioventricular block with sinus arrest, ventricular fibrillation and atrial fibrillation. ECG was normalized after 2 weeks on chemotherapy. Left ventricular hypertrophy was improved and pericardial effusion disappeared. However, she died of recurrence of malignant lymphoma on day 116.