Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Heredopathia atactica polyneuritiformis (phytanic-acid storage disease, Refsum's disease) is an inborn error of metabolism, in which the body accumulates exogenous phytanic acid. The severe manifestations of this disease, which include pigmentary retinal degeneration, chronic polyneuropathy, ataxia, impaired hearing, and cardiopathy, can be either kept from worsening or reversed by elimination of foods rich in phytanic acid from patients' diets. This is borne out by a 20-year experience with two patients, whose conditions improved markedly once they stopped eating butter, animal fat, and other foods rich in phytanic acid.
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PMID:Heredopathia atactica polyneuritiformis phytanic-acid storage disease, Refsum's disease:" a biochemically well-defined disease with a specific dietary treatment. 617 Feb 81

The idiopathic hypereosinophilic syndrome (HES) is a rare disease, characterised by persistent eosinophilia (> 1500/mm3), without underlying cause, provoking multiple organ system injury. Morbidity and mortality are mostly associated with the HES cardiopathy. Neurological signs are also frequent. Neurological dysfunction can be central (encephalopathy, organic psycho-syndrome) and peripheral (polyneuropathy, mononeuropathia multiplex, autonomic neuropathy, polymyositis). The encephalopathy is not always caused by distant thrombo-embolic events originating from the HES cardiopathy. We describe a patient with idiopathic HES central nervous system dysfunction, in the absence of cardiopathy. Furthermore we briefly discuss pathophysiological aspects, treatment modalities and the prognosis of the HES, in relation to our patient.
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PMID:Idiopathic hypereosinophilic syndrome revealed by central nervous system dysfunction. 871 88

Current advances in the study of hypertrophic osteoarthropathy are discussed. An update of the classification of hypertrophic osteoarthropathy is given in which the POEMS (polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes) syndrome is included among the associated diseases. Cyanotic heart disease is the internal illness most closely linked to hypertrophic osteoarthropathy. The bony alterations at the distal phalanxes and on the periosteum of the tubular bones leave a characteristic and indelible mark that can be diagnosed centuries after the death of the individual. Current thinking suggests that localized activation of endothelial cells by an abnormal platelet population, with the ensuing release of fibroblast growth factors, plays a central role in the pathogenesis of the acropachy. Antiphospholipid syndrome may be a feature of cardiogenic hypertrophic osteoarthropathy. Unraveling the mechanisms of hypertrophic osteoarthropathy may help in understanding the pathogenesis of the associated diseases.
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PMID:Hypertrophic osteoarthropathy. 911 Jan 40

Type I familial amyloid polyneuropathy (FAP), or Andrade's disease, is an inherited autosomal dominant disease, always fatal, involving mixed progressive polyneuropathy associated with systemic amyloid deposits. The disease is secondary to mutations of a gene (located on chromosome 18) which encodes for a serum protein, transthyretin. This variant protein is essentially (> 90%) produced in the liver and constitutes the biological marker of the disease. Many surgical teams have established a liver transplantation program for this non-cirrhotic pathology. Between January and August 1994, we performed three orthotopic liver transplantations (OLT) in patients with FAP. The patients were men aged between 30 and 33 years and the mean duration of symptoms was 3 years. The diagnosis of FAP was confirmed by rectal biopsy and detection of the genetic mutation (PCR analysis). All patients presented a severe sensory, motor and autonomic neuropathy with major digestive and urologic dysfunction. Two other patients were not accepted for OLT because of advanced disease with ulcerous lesions of the inferior limbs and cardiopathy. All patients survived with excellent post-operative hepatic function. One month after OLT, one patient had hepatocellular rejection which responded favorably to steroids. Another patient developed post-transfusional B hepatitis 10 months after the graft, but without major hepatic lesions. In the three cases, we observed stabilization of the peripheral neuropathy and an objective improvement of the autonomic affection (neurogenic bladder, diarrhea). The patients who did not undergo transplantation died within a year. Thus, in patients suffering from familial amyloid polyneuropathy OLT must be performed, especially in the early stage of the disease and especially in young patients before serious neurological complications set in.
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PMID:[Orthotopic liver transplantation for familial Portuguese amyloidosis]. 928 38

Phytanic acid storage disease (known also as Refsum's Disease) is caused by inherited defects in the metabolic pathway for phytanic acid, a dietary branched-chain fatty acid. Poorly metabolized phytanic acid accumulates in fatty tissues, including myelin sheaths, and in organs including the liver and kidneys. Over time, affected individuals may develop classical diagnostic features of retinitis pigmentosa, cerebellar ataxia, peripheral polyneuropathy and an elevated protein content in the cerebrospinal fluid. Liver, kidney, and heart disease may also develop. Dietary restriction of phytanic acid is useful in preventing acute attacks and arresting the progression of organ impairment, especially in the peripheral nervous system. Therapeutic plasma exchange has been shown to be particularly useful for rapidly lowering plasma phytanic acid levels during acute attacks and may play a significant role as maintenance therapy as well.
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PMID:Phytanic acid storage disease (Refsum's disease): clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management. 1061 28

We present the clinical manifestations of 4 male patients with acute stroke-like symptoms and polyneuropathy after long-term exposure to carbon disulfide (CS2) in a viscose rayon plant. The ages of onset of polyneuropathy ranged from 42 to 45 years with a duration of CS2 exposure between 6 and 21 years. The ages of onset of stroke were from 42 to 48 years. The risk factors for stroke including heart disease and diabetes were denied, except for smoking in 4, hyperlipidemia in 2 and hypertension in 1. At the initial visit in 1992, only 2 patients developed sudden onset of hemiparesis suggesting a lacunar stroke before the diagnosis of CS2 intoxication. Brain computed tomography (CT) scans showed low-density lesions in the basal ganglia in 2 patients, cortical atrophy in 1 and normal in 1. Brain magnetic resonance image (MRI) study disclosed multiple lesions in the corona radiata and basal ganglia on T(2)-weighted images in 3 patients and cortical atrophy in 1. After the diagnosis, they left their jobs for a CS2-free environment, and improvement of the working conditions was noted. During 5 years follow-up period, another 2 patients also developed an acute episode of stroke with hemiparesis. Brain CT and/or MRI follow-up studies in these 2 patients revealed new lesions in the basal ganglia and corona radiata. Intriguingly, a patient with previous stroke also developed new lesions in the bilateral thalami and brainstem. Carotid Doppler scan, transcranial Doppler scan and/or cerebral angiography did not show any prominent stenosis or occlusion in the major intracranial large arteries. We conclude that encephalopathy may occur in patients after long-term CS2 exposure, probably due to impaired cerebral perfusion. The lesions tend to occur in the basal ganglia, corona radiata and even brainstem, particularly involving the small-sized vessels. In addition, the cerebral lesions may progress even after cessation of CS2 exposure. Therefore, we suggest that CS2 exposure may be a risk factor for stroke.
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PMID:Carbon disulfide vasculopathy: a small vessel disease. 1130 75

Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant disorder caused by mutation in the transthyretin gene. The most common mutation is substitution of valine for methionine at position 30 (MET30). Liver transplantation (LT) is the preferred treatment. After LT, although many patients show stabilization or improvement in the disease, adverse outcomes have been reported in those who have malnutrition, long-standing disease, and non-MET (NMET) mutations at position 30. Our aim is to compare survival and outcome of symptoms associated with FAP after LT in patients with MET30 and NMET30 mutations. Medical records of all patients who underwent LT for amyloidosis at our institution were reviewed to obtain demographic information and clinical features, such as severity of neuropathy, diarrhea, orthostatic hypotension, and posterior wall or ventricle septal thickness before and after LT. Fifteen patients underwent LT for amyloidosis at our institution between 1990 and 2000 (MET30, n = 5; NMET30, n = 7; hereditary amyloidosis, n = 2; primary amyloidosis, AL type, n = 1). Patients with hereditary and primary amyloidosis were excluded from analysis. One- and 3-year survival rates after LT in MET30 patients were 100%. Before LT, five of five patients had sensorimotor neuropathy; five of five patients had diarrhea, and four of five patients had orthostatic hypotension. After LT, improvement or stabilization of neuropathy was seen in two of five patients; of diarrheal symptoms, in three of five patients; and of orthostatic hypotension, in three of four patients. One- and 3-year survival rates after LT in NMET30 patients were 100% and 85.7%, respectively. Before LT, six of seven patients had sensorimotor neuropathy, six of seven patients had diarrhea, and five of seven patients had orthostatic hypotension. After LT in this group, improvement or stabilization of neuropathy was seen in two of six patients; of diarrhea, in six of six patients; and of orthostatic hypotension, in five of five patients. Before LT, posterior wall and/or ventricle septal thickness was increased in two of five MET patients and seven of seven NMET patients. Five of seven NMET30 patients (71.4%) who received a combined liver and heart transplant had stabilization, and two patients in the NMET group and one patient in the MET group had progression of heart disease. Outcomes for LT for patients with FAP with MET or NMET mutations were similar. Earlier LT for patients with FAP with MET30 or NMET30 mutation would improve outcomes after LT.
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PMID:Outcome of liver transplantation for familial amyloidotic polyneuropathy. 1462 27

The diagnosis of mitochondrial myopathy depends upon a constellation of findings, family history, type of muscle involvement, specific laboratory abnormalities, and the results of histological, pathobiochemical and genetic analysis. In the present paper, the authors describe the diagnostic approach to mitochondrial myopathies manifesting as extraocular muscle disease. The most common ocular manifestation of mitochondrial myopathy is progressive external ophthalmoplegia (PEO). To exclude myasthenia gravis, ocular myositis, thyroid associated orbitopathy, oculopharyngeal muscular dystrophy, and congenital fibrosis of the extraocular muscles in patients with an early onset or long-lasting very slowly progressive ptosis and external ophthalmoplegia, almost without any diplopia, and normal to mildly elevated serum creatine kinase and lactate, electromyography, nerve conduction studies and MRI of the orbits should be performed. A PEO phenotype forces one to look comprehensively for other multisystemic mitochondrial features (e.g., exercise induced weakness, encephalopathy, polyneuropathy, diabetes, heart disease). Thereafter, and presently even in familiar PEO, a diagnostic muscle biopsy should be taken. Histological and ultrastructural hallmarks are mitochondrial proliferations and structural abnormalities, lipid storage, ragged-red fibers, or cytochrome-C negative myofibers. In addition, Southern blotting may reveal the common deletion, or molecular analysis may verify specific mutations of distinct mitochondrial or nuclear genes.
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PMID:Extraocular mitochondrial myopathies and their differential diagnoses. 1676 Jan 17

Chronic arsenic toxicity (arsenicosis) due to drinking of arsenic contaminated ground water is a major environmental health hazard throughout the world including India. A lot of new information is emerging from extensive research on health effects of chronic arsenic toxicity (CAT) in humans during the last two decades. Available literature has been reviewed to highlight the problem including its malignancies. Pigmentation and keratosis are the specific skin lesions characteristics of CAT. CAT also produces various systemic manifestations over and above skin lesions, important ones being chronic lung disease like chronic bronchitis, chronic obstructive pulmonary disease and bronchiectasis, liver disease like non-cirrhotic portal fibrosis and other diseases like polyneuropathy, peripheral vascular disease, hypertension and ischeamic heart disease, diabetes mellitus, non-pitting oedema of feet/hands, weakness and anaemia. Cancer of skin, lung and urinary bladder are important cancers associated with chronic arsenic toxicity. Stoppage of drinking of arsenic contaminated water is the main stay in the management of arsenicosis as specific chelation therapy has limited value. Early skin cancer, detectable by regular active surveillance, is curable. In addition to dermatological features, CAT produces protean clinical manifestations. Treatment of arsenicosis is unsatisfactory and is mostly symtomatic.
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PMID:Chronic arsenic toxicity & human health. 1910 39

Familial amyloid polyneuropathy (FAP) is the most serious of the hereditary neuropathies in adults and is due to endoneurial amyloid deposits. These sensorimotor and autonomic diseases are very progressive and disabling. A "typical" patient with FAP is 30-years-old, of Portuguese origin, and has insidiously developed pains or sensory loss in the feet and digestive disorders, such as diarrhea, and has lost weight. Clinical examination shows sensory polyneuropathy of the distal small fibers (with sensory loss prevailing over sensations of temperature and pain). Cardiac disorders are frequent. One parent will have died prematurely from this disease. FAP are fatal 10.8 years after the first symptoms, on average. Neuropathy is usually associated with cardiac manifestations, weight loss, and more rarely renal or eye complications. FAP are secondary to a point mutation of the transthyretin (TTR) or prealbumin gene (18q11.2-q12.1), of which there are 40 variants. In France, the variant TTRMet30 is present in half of all cases and one third of FAP patients present with sporadic disease. Liver transplantation has been proposed as a treatment for FAP because the liver is the main source of variant amyloidogenic TTR. Transplantation makes it possible to eliminate 98% of the variant TTR in the serum, doubles median survival for variant TTRMet30 carriers, and halts the progress of the sensorimotor neuropathy over the long term in 62% of cases. No regression or recurrence has been observed. Poor prognostic factors after liver transplantation are a mutation other than the TTRMet30 variant, severe neuropathy, and late onset. Liver transplantation must be proposed to the symptomatic patients as early as possible. It should be performed in a center specialized in FAP. After LT, periodic follow-up in such a center is essential.
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PMID:[Liver transplantation for familial amyloid polyneuropathy]. 1941 35


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