Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A man, aged 63, had an illness which lasted 11 months from onset with pain under the left costal margin which radiated to the epigastrium, until his death from cardiac failure. His symptoms consisted principally of parasthesias and proximal weakness of both upper and lower extremities with atrophy of the shoulder and pelvic girdles. He developed pyramidal tract signs, became euphoric, emotionally unstable and mentally retarded. There was no clinical evidence of cerebellar dysfunction. Bronchogenic carcinoma was suspected from a tomograph of the thorax, but, in spite of extensive clinical and laboratory studies, the diagnosis was verified only postmortem. The CSF cell count was high at first but diminished as the disease progressed. Muscle biopsies revealed chronic generalized denervation without signs of myopathy. Neuropathologically, encephalomyeloradiculoneuritis concentrated on the spinal cord was combined with severe rarefaction of the ganglion cells of the anterior horns and with bilateral degeneration of the lateral pyramidal spinocerebellar and posterior tracts. A more diffuse process was obvious in the anterolateral tracts of the lumbar region. Polyneuropathy concentrated in the distal region was accompanied by slight inflammatory reaction in the sciatic nerve. Cerebellocortical degeneration which exceeded physiological age-related rarefaction was also present. The findings are discussed in relation to the literature.
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PMID:Carcinomatous encephalomyelopathy in conjunction with encephalomyeloradiculitis. 7 20

The pathology of primary familia amyloidosis with polyneuropathy is described on the basis of post-mortem examination of six cases from Northern Sweden. Clinically the disease is characterized by progressive sensory and motor disturbances with loss of sensation, muscular wasting and flaccid paralysis. Impotence, urinary bladder dysfunction, motility disturbances of the gastro-intestinal tract and postural hypotension indicate affection of the autonomic nervous system as well. Malabsorption, cardiac insufficiency and vitreous opacites also occur. As regards the distribution of amyloid, the following findings seemed to be characteristic. Usually there were no gross lesions indicating the amyloid disease. Histopathologically, amyloid deposits were observed in great extent in the peripheral nervous system and in various parts of the peripheral autonomic nervous system as well. It occurred extensively in the walls of blood vessels of various calibres, in the perivascular collagenous connective tissue and adjacent to the smooth musculature. Amyloid deposition was also found more or less abundantly in various other organs and tissues. No deposits, however, or only insignificant amounts, were found in the central nervous system, either in the parenchyma of the liver, in the islets of Langerhans, or in the bone marrow. Clinical manifestations seemed to be related to the local deposition of the amyloid substance. Our clinical and pathological findings in this particular type of familial amyloidosis conformed mostly to those previously described.
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PMID:Postmortem findings in primary familial amyloidosis with polyneuropathy. 115 99

In Indonesia beriberi is still endemic, but subclinical cases are not uncommon. Three patients suffering from beriberi presented with different clinical manifestations. One had the classical features of Shoshin beriberi and the other two had the non-alcoholic cardiac beriberi (chronic type). The cardiac symptoms of all three patients responded dramatically to thiamine tetrahydrofurfuryl disulfide; there was also some improvement of their polyneuropathy, consistent with the neurophysiologic findings and somatosensory evoked potentials (SSEPs). We conclude that SSEPs provide additional clinical information on beriberi polyneuropathy. The mortality of untreated cardiovascular beriberi is high. In view of the harmless nature of the treatment, a good case could be made for routine administration of thiamine to all patients in whom heart failure is present without clear evidence of the cause.
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PMID:Beriberi cardiomyopathy. 131 64

A Japanese kindred with dominantly inherited amyloid polyneuropathy, commonly called familial amyloid polyneuropathy (FAP), has been identified. Amyloid protein was transthyretin (TTR) related and the patients were heterozygous for the mutant gene encoding TTR with a single amino acid substitution of cysteine for tyrosine at position 114. This family originated in Nagasaki Prefecture, Japan, and 12 of the 36 known members of six generations have been affected. The initial symptoms occurred in their thirties with the cardinal features of polyneuropathy, vitreous opacities and cardiac disease. Sensory neuropathy was severe in the lower limbs. Autonomic disturbances, especially postural hypotension, were the most debilitating to the patients. Amyloid deposits were detected widely in most organs except for the central nervous system. The duration from the onset of the disease to death was within 10 yrs. Heart failure caused by heavy amyloid deposits was the most common cause of sudden death.
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PMID:Familial amyloid polyneuropathy associated with the transthyretin Cys114 gene in a Japanese kindred. 133 Feb 2

Refsum's disease is a polyneuropathy due to a hereditary error in the metabolism of a fatty acid, phytanic acid, usually leading to cardiac failure only at an advanced stage of the disease. The authors report the case of two brothers with Refsum's disease revealed by a heart failure before the clinical stage of the peripheral neuropathy. In the younger brother, the affection started at the age of 22 years by an acute pulmonary oedema which revealed a dilated, hypokinetic myocardiopathy, associated with retinitis pigmentosa, ptosis, anosmia and biological myolysis. The normal plasma concentration of phytanic acid measured several times led to the conclusion of Kearns-Sayre syndrome even if certain aspects were atypical (moderate conduction disorders, no characteristic aspect in the muscle biopsy). Five years later, the older brother, aged 28, presents a dyspnea on effort which leads to the discovery of a hypokinetic, hypertrophic myocardiopathy, slightly dilated, associated with cardiac conduction disorders, retinitis pigmentosa, anosmia and biological myolysis. The plasma concentration of phytanic acid being very high. Refsum's disease was diagnosed and the diagnosis of younger brother was corrected. From the study of these two cases, the characteristics of the cardiac disorders can be specified: the cardiopathy can reveal the disease and correspond to a dilated or hypertrophic myocardiopathy. The diagnosis of the disease can be difficult because the plasma phytanic acid may remain at normal level, thus requiring the assay of the activity of phytanate oxydase. The existence of ophthalmologic signs (retinitis pigmentosa or progressive ophthalmoplegia externa) associated with a myocardiopathy must systematically lead to a search for Refsum's disease, this diagnosis having fundamental therapeutic implications (died, even plasmapheresis).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Refsum's disease. Apropos of 2 cases disclosed by myocardiopathy]. 169 53

The AA. report a case of thymine acute deficiency in a 35 year old chronic alcoholic and malnourished male, who was admitted to the hospital because of high-output heart failure, peripheral polyneuropathy, cortico-cerebellar atrophy (associated with RMN), ataxia and peripheral edema. The diagnosis of wet Beri-beri combined with Wernicke-Korsakoff syndrome was made and appropriate therapy with pulse daily dose of parenteral thymine instituted. At the fifth day of therapy the cardio-circulatory hyperkinetic syndrome was markedly improved and after three weeks neurological damage was also alleviated. The AA. outline the importance of early diagnosis and treatment for this form of high-output heart failure, which has a poor prognosis and, if left untreated, can determine the death of the patient in a few days.
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PMID:[A case of wet beriberi]. 262 23

To determine the prevalence of cardiac arrhythmias in patients with systemic amyloidosis 24 hour electrocardiographic monitoring was performed in 27 patients with primary amyloidosis and in 6 patients with familial amyloid polyneuropathy. All patients underwent echocardiographic studies. Despite a high prevalence of conduction disturbances on standard electrocardiogram, clinically significant bradyarrhythmias were rare (one patient). Complex ventricular arrhythmias (multiform, paired or repetitive beats) occurred in 14 patients (47%) with primary amyloid and 3 patients (50%) with familial amyloid polyneuropathy. The presence of cardiac arrhythmia correlated with heart failure and, more strongly, with an abnormal echocardiogram. There were four sudden deaths, all in patients with abnormal echocardiograms and complex ventricular arrhythmias. These findings suggest that complex ventricular arrhythmia on Holter monitoring is common in cardiac amyloidosis and may be a harbinger of subsequent sudden cardiac death.
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PMID:Cardiac arrhythmias in systemic amyloidosis: correlation with echocardiographic abnormalities. 631 29

Sixteen consecutive patients with familial amyloidosis with polyneuropathy of varying duration and severity underwent 24 hour ambulatory electrocardiographic monitoring. A high incidence of sinus node dysfunction, supraventricular and ventricular arrhythmias, and disturbances of atrioventricular conduction was found. Considerably more arrhythmias and disturbances of conduction were detected by long term electrocardiographic monitoring than by conventional 12 lead electrocardiograms. During a follow up period of three to 14 months five patients needed treatment by a pacemaker, three of them because of symptomatic complete heart block, one because of second degree heart block with heart failure, and one because of symptomatic dysfunction of the sinus node. The tachyarrhythmias did not require specific treatment. Long term electrocardiographic monitoring is a useful adjunct in the evaluation of patients with familial amyloidosis with polyneuropathy as it may detect otherwise unrecognised symptomatic disturbances of heart rhythm. The results may be valid also for other forms of amyloidosis involving the heart.
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PMID:Disturbances of cardiac rhythm and conduction in familial amyloidosis with polyneuropathy. 632 51

A 57-year-old woman with Crow-Fukase syndrome presented thiamine deficiency and pulmonary hypertension of unknown etiology. After oral administration of prednisolone and thiamine, echocardiogram showed marked improvement of the pulmonary hypertension. To our knowledge, this is the first case of this syndrome associated with thiamine deficiency and precapillary pulmonary hypertension, which may play a role in the pathogenesis of polyneuropathy and heart failure of this syndrome.
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PMID:Thiamine deficiency and pulmonary hypertension in Crow-Fukase syndrome. 749 83

Cardiac amyloidosis is caused by amyloid deposits derived from different human plasma proteins. It can lead to cardiac conduction disturbances, restrictive cardiomyopathy, and low output heart failure. The heart is variably involved during the development of systemic amyloidosis and seems to be more frequently affected in immunoglobulin (primary) than in reactive (secondary) amyloidosis. Amyloid is common in the elderly. Isolated atrial amyloid, for which a major subunit is the atrial natriuretic peptide, seems to be three times more frequent than senile cardiac amyloid, which is derived from normal prealbumin (transthyretin). Like polyneuropathy, cardiac amyloidosis is a prominent clinical feature of hereditary amyloidosis, namely of the autosomal dominant transthyretin (TTR) type. All 28 cases of TTR amyloidoses reported so far were heterozygotes for a single nucleotide change in the gene for TTR that resulted in amino acid substitutions in the mature protein. A new TTR genetic variant is reported in a German family where the index patient presented at the age of 63 with anginal pain and arrhythmia. Electrocardiography was suggestive of a pseudoinfarction pattern, and echocardiography and cardiac catheterisation showed signs of hypertrophic nonobstructive cardiomyopathy with increased ventricular filling pressures and a prominent "a" wave. Amyloid of the TTR type was identified by immunohistochemistry in the endomyocardial biopsy specimen. Hybrid isoelectric focusing established heterozygosity by showing normal TTR protein and an electrically neutral TTR variant differing from all known TTR variants so far. The patient died in an accident before investigations were complete. Electrophoretic analysis of the plasma from his first degree relatives (son, daughter, brother, and mother) identified the asymptomatic 22 year old son as an apparently heterozygous carrier of the mutant TTR protein. Comparative tryptic peptide mapping and sequencing showed that isoleucine at position 68 of the amino acid sequence was replaced by leucine.
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PMID:Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant. 803 17


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