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Primary hemochromatosis is characterized by a specific pattern of clinical manifestations. It includes liver disease with hepatomegaly, glucose intolerance, e.g. diabetes, hyperpigmentation oft the skin, impotence/ amenorrhea, arthropathy, cardiomyopathy and fatigue. Laboratory investigation reveals significantly elevated serum ferritin and transferrin saturation with iron. The diagnosis is confirmed by liver biopsy and quantitative determination of elevated liver iron content. Wilson's disease represents a copper storage disease. Prominent clinical features are hepatomegaly and splenomegaly. Neurological alterations and detection of Kayser-Fleischer corneal rings are typical. In the acute initial phase the often young patients present with Coombs-negative hemolysis. Psychiatric alterations, cardiomyopathy, arthropathy, nephropathy, as well as thrombocytopenia and leucopenia are other clinical features. Laboratory parameters of Wilson's disease include low serum ceruloplasmin and serum copper. There is an elevated urinary copper excretion and elevated serum free copper concentration. The diagnosis is confirmed by liver biopsy with quantitative determination of an elevated liver copper content.
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PMID:[Current diagnosis: hereditary metabolic diseases of the liver (primary hemochromatosis, Wilson disease)]. 898 78

A 51-year-old woman presented with mild stenosis of the mitral valve which had become thickened and rigid due to infective endocarditis, manifesting as persistent fever of up to 40 degrees C and general fatigue of a few days' duration. A harsh systolic murmur was heard. Multiple blood cultures revealed alpha-streptococcus. Echocardiography disclosed asymmetric septal hypertrophy (interventricular septal thickness/posterior wall thickness, 19/14 mm) and systolic anterior wall motion of the mitral valve. Continuous wave Doppler ultrasonography showed a peak left ventricular outflow tract pressure gradient of 170 mmHg. Transesophageal echocardiography revealed vegetations on the anterior mitral leaflet, aortic valve and interventricular septum along the left ventricular outflow tract. In particular, the anterior mitral leaflet was thickened and moved poorly. The calculated mitral valve areas was 1.5 cm2 and peak diastolic left atrium-left ventricle pressure gradient was 7 mmHg. A specimen of the mitral valve did not reveal commissural adhesion, but the anterior mitral leaflet showed marked fibrous thickening caused by scarred vegetation. Based on these findings, the diagnosis was hypertrophic obstructive cardiomyopathy complicated by infective endocarditis and "mitral stenosis". Valvular regurgitation is a common complication of active and healed infective endocarditis. In contrast, infective endocarditis rarely causes valvular stenosis except for stenosis caused by large fungus vegetation.
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PMID:[A patient with mitral stenosis due to infective endocarditis]. 921 Nov 13

The complications of iron overload in hemochromatosis can be avoided by early diagnosis and appropriate management. Therapeutic phlebotomy is used to remove excess iron and maintain low normal body iron stores, and it should be initiated in men with serum ferritin levels of 300 microg/L or more and in women with serum ferritin levels of 200 microg/L or more, regardless of the presence or absence of symptoms. Typically, therapeutic phlebotomy consists of 1) removal of 1 unit (450 to 500 mL) of blood weekly until the serum ferritin level is 10 to 20 microg/L and 2) maintenance of the serum ferritin level at 50 microg/L or less thereafter by periodic removal of blood. Hyperferritinemia attributable to iron overload is resolved by therapeutic phlebotomy. When applied before iron overload becomes severe, this treatment also prevents complications of iron overload, including hepatic cirrhosis, primary liver cancer, diabetes mellitus, hypogonadotrophic hypogonadism, joint disease, and cardiomyopathy. In patients with established iron overload disease, weakness, fatigue, increased hepatic enzyme concentrations, right upper quadrant pain, and hyperpigmentation are often substantially alleviated by therapeutic phlebotomy. Patients with liver disease, joint disease, diabetes mellitus and other endocrinopathic abnormalities, and cardiac abnormalities often require additional, specific management. Dietary management of hemochromatosis includes avoidance of medicinal iron, mineral supplements, excess vitamin C, and uncooked seafoods. This can reduce the rate of iron reaccumulation; reduce retention of nonferrous metals; and help reduce complications of liver disease, diabetes mellitus, and Vibrio infection. This comprehensive approach to the management of hemochromatosis can decrease the frequency and severity of iron overload, improve quality of life, and increase longevity.
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PMID:Management of hemochromatosis. Hemochromatosis Management Working Group. 986 45

Durability of stentless porcine aortic valves is determined by the resistance of the cusps to mechanical fatigue and reactions by the host. This study examines the role of mismatch between the size of the valve and the diameter of the sinotubular junction on durability of the valve. A custom-made stentless porcine aortic valve designed for implantation in the subcoronary position was used for aortic valve replacement in 29 patients. There were 15 men and 14 women, with a mean age of 58 years (range 26 to 72 years). In addition to aortic valve replacement, 6 patients had mitral valve surgery, 10 patients had coronary artery bypass graft, 1 patient had closure of an atrial septal defect, and 1 had concomitant aortobi-iliac bypass graft. Follow-up time extended from 10.3 to 11.5 years and was complete. The selection of size of valve implanted was based solely on the diameter of the aortic annulus. Because the diameter of the sinotubular junction plays an important role in leaflet motion and valve competence, the size of valves was compared with the diameter of the sinotubular junction of the aortic roots where they were implanted. There was one operative death and five late deaths. There were no valve-related deaths. The actuarial survival at 10 years was 76%+/-5%. There were only two transient ischemic attacks and no strokes. One patient developed endocarditis 4 years' postoperatively and was successfully treated with aortic valve re-replacement. One patient with cardiomyopathy had heart transplantation. Thus, the stentless valve was at risk of failure in 21 patients. Nine patients developed echocardiographic evidence of valve dysfunction: seven had aortic valve re-replacement and two continue to be observed because the dysfunction is not severe. The function of the stentless valve remained normal in 12 patients. Patients with bioprosthetic valve dysfunction had a sinotubular junction 3.2+/-1.3 mm larger than the size of the valve, whereas patients with normal bioprosthetic valve function had a sinotubular junction 0.8+/-1.2 mm larger than the size of the valve (P = .01). The durability of stentless porcine aortic valve implanted in the subcoronary position is affected by discrepancies in diameters between the xenograft valve and the sinotubular junction of the aortic root. Sinotubular junction greater than the size of the stentless valve probably increases mechanical stress on the cusps and causes premature valve failure.
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PMID:Aortic valve replacement with stentless porcine aortic valve: a pioneer series. 1066 Jan 59

Sleep-related breathing disorders, ranging from habitual snoring to the increased upper airway resistance syndrome to sleep apnea, are now recognized as major health problems. The majority of patients have excessive daytime sleepiness and tiredness. Neuropsychological dysfunction results in poor work performance, memory impairment, and even depression. Until recently, the coexistence of cardiovascular and cerebrovascular diseases with sleep-related breathing disorders was thought to be the result of shared risk factors, such as age, sex, and obesity. However, in the past 5 years several epidemiologic studies have demonstrated that sleep-related breathing disorders are an independent risk factor for hypertension, probably resulting from a combination of intermittent hypoxia and hypercapnia, arousals, increased sympathetic tone, and altered baroreflex control during sleep. Sleep apnea may lead to the development of cardiomyopathy and pulmonary hypertension. Early recognition and treatment of sleep-related breathing disorders may improve cardiovascular function.
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PMID:Sleep-related breathing disorders and cardiovascular disease. 1075 96

Based on the national surveys in Japan, the most common symptoms of dilated cardiomyopathy(DCM) were dyspnea, palpitation, general fatigue and edema. Palpitation, dyspnea, general fatigue and anginal pain were common in hypertrophic obstructive cardiomyopathy(HOCM) and hypertrophic non-obstructive cardiomyopathy (HNOCM). Dyspnea was the most common symptom in constrictive cardiomyopathy (RCM). Electrocardiographic findings in DCM were not specific, and ST-T change, wide QRS complex, left ventricular hypertrophy and abnormal Q wave were frequently observed. In both of HOCM and HNOCM, frequent electrocardiographic abnormalities were ST-T abnormality, left ventricular hypertrophy and wide QRS complex. Moreover, abnormal Q wave was frequently observed in HOCM. Ventricular arrhythmia, including fatal ventricular tachycardia or ventricular fibrillation, was frequently found in patients with any type of cardiomyopathy.
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PMID:[Symptoms and electrocardiographic findings in cardiomyopathies]. 1088 83

Carnitine is a conditionally essential metabolite that plays a critical role in cell physiology by participating in transesterification reactions and preventing organic acid accumulation. A number of disease states are characterized by carnitine depletion that may lead to metabolic and clinical disturbances. In maintenance hemodialysis, carnitine is lost through dialytic membranes, leading in selected patients to carnitine depletion with a relative increase of the esterified forms. Carnitine supplementation after or during dialysis counteracts such alterations and may be associated with some clinical benefits. Recent meta-analyses of the literature indicate that carnitine supplementation in hemodialysis patients may improve the hematological status (allowing a reduction of the requirement for erythropoietin), the exercise tolerance, the plasma lipid profile, and the intradialytic symptoms. In addition, carnitine supplementation may improve cardiac functions, protein metabolism, and insulin resistance. Carnitine supplementation has been recently approved by the US Food and Drug Administration not only for the treatment, but also for the prevention of carnitine depletion in dialysis patients. Furthermore, clinical guidelines developed by both American and European nephrological societies suggest that a trial with carnitine supplementation could be recommended in selected dialysis patients who do not adequately respond to standard therapy for certain conditions, such as severe and persistent muscle cramps or hypotension during dialysis, lack of energy affecting quality of life, skeletal muscle weakness or myopathy, cardiomyopathy, and anemia of uremia unresponsive to or requiring large doses of erythropoietin.
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PMID:Carnitine metabolism in uremia. 1157 25

(1) Clozapine, a neuroleptic known to carry a risk of agranulocytosis, can also induce myocarditis and dilated myocardiopathy. (2) Patients taking clozapine who develop dyspnoea, fatigue, chest pain or collapse should be screened for myocarditis, especially during the first weeks of treatment.
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PMID:Myocarditis due to clozapine. 1171 72

From the clinical standpoint a cardiomyopathy can be classified as primitive when other causes, i.e. ischemic, infiltrative, systemic diseases, can be ruled out. Initial symptoms usually include a progressive dyspnea and fatigue with tachycardia in a patient previously healthy. Congestive heart failure may be the initial manifestation. Angina is often present, not only because of coronary heart disease. Auscultatory findings usually include a gallop rhythm with a third heart sound, not rarely a four-sound gallop. Blood test to evaluate renal and liver function should be performed. The dosage of troponin I and/or troponin T, plasma renin activity, brain natriuretic peptide or endothelins has recently gained some reputation to indicate prognosis, but there is no reason to believe that these measures are superior to cardiopulmonary stress test.
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PMID:[Dilated cardiomyopathy: role of clinical and laboratory evaluation]. 1202 82

Iron overload in body tissues can cause complications such as cirrhosis, cardiomyopathy, diabetes, hypogonadism and arthritis. In populations of northern European descent, most iron overload is due to hereditary haemochromatosis (HHC), a genetic condition that causes increased iron absorption. HHC can be treated or prevented by regular phlebotomy treatments. Some experts have called for population screening for HHC, so that early phlebotomy treatment can be initiated. Two screening tests are available: measurement of the serum iron transferrin saturation (Tf%) and genetic testing for HFE mutations. However, both methods have low positive predictive values. Current data suggest that most people at risk are unlikely to develop clinical symptoms and that the population prevalence of clinical complications of HHC is low, arguing against population screening. Two other prevention strategies are available. (1) Health provider education, to heighten awareness of HHC as an explanation for symptoms and signs seen in early iron overload including unexplained fatigue, joint pain, palpitations, abdominal pain, elevated liver function tests, hepatomegaly and elevated serum ferritin. (2) Family-based testing after a diagnosis of HHC, to ensure that relatives are evaluated for evidence of iron overload. More research is also needed to identify the factors that increase risk for disease in persons with excess iron uptake, to determine whether moderate iron overload is a health risk and to evaluate the causes of iron overload other than HHC.
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PMID:Hereditary haemochromatosis: a realistic approach to prevention of iron overload disease in the population. 1240 10


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