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)

We report a 65-year-old man with amyloidotic polyneuropathy, who first suffered from heart failure at the age of 57, 3 years before the onset of neurological symptoms. He had no obvious family history. We analysed the transthyretin gene of the patient and 6 asymptomatic family members using polymerase chain reaction (PCR). The single amino acid substitution of a methionine for valine at position 30, which is a common mutation of Japanese type I FAP patients, was found from the patient and his sister of 47 years. Though Type I FAP patients often have cardiac conduction block, they rarely have signs of heart failure until the end stage of the disease. This is the first report of Type I FAP with severe myocardial involvement, in which TTR mutation at position 30 was confirmed. The result revealed the clinical variation of Type I FAP.
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PMID:[A sporadic case of late onset familial amyloidotic polyneuropathy preceded by cardiac involvement]. 826 6

A 60-year-old woman suffering from heart failure was found to have Crow-Fukase syndrome. A precise cardiovascular study revealed the existence of pulmonary hypertension (PH), cardiomegaly and myocardial hypertrophy in addition to manifestations of this syndrome such as hyperpigmentation, hypertrichosis, finger clubbing, polyneuropathy, organomegaly and plasma cell dyscrasia. These findings suggest the possibility that patients with Crow-Fukase syndrome have cardiopulmonary disorders including PH and cardiomegaly which might cause some cardiovascular symptoms such as peripheral edema and finger clubbing.
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PMID:Crow-Fukase syndrome associated with pulmonary hypertension. 828 34

A total of 40 patients with diabetes mellitus without anginal episodes and equivalents were studied. 24-hour monitoring identified 2 groups of patients: (1) 13 patients with recorded silent myocardial ischemic episodes and (2) 23 patients without episodes. Four patients were found to have stress-echocardiographic silent myocardial ischemia. Silent myocardial ischemia was detected in 42.5% of patients with diabetes mellitus. The patients from Group 1 exhibited more frequently Type II diabetes mellitus whose duration was over 9 years and concurrent retino- and polyneuropathies. There was a relationship between silent myocardial ischemia to heart failure and myocardial hypertrophy as evidenced by two-dimensional echocardiography. The patients from Group 1 had a higher pain sensitivity threshold than those from Group 2. Autonomic polyneuropathy was observed in 46% of Group 1 patients and in 21% of Group 2 patients.
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PMID:[Silent myocardial ischemia in patients with diabetes mellitus without the clinical manifestations of ischemic heart disease]. 837 56

A case of a 40-year-old female is reported. Her symptoms started with abdominal complaints, loss of weight, general weakness, then gradually polyneuropathy, worsening hypotonia and systolic heart murmur developed. The bone marrow showed 20-25% infiltration by myeloma. An IgG lambda type paraproteinaemia was diagnosed using immunelectrophoresis. The ejection systolic murmur was caused by restrictive cardiomyopathy--characteristic of primary amyloidosis--with obstruction of the outflow tract of the left ventricle. Echocardiographic changes took 11 months to develop. The patient's status became dominated by severe hypotonia and she died as a result of heart failure. The post mortem examination confirmed amyloidosis with myeloma. Histopathological examination of the myocardium, coronary and other arteries revealed severe changes with AL-type amyloid deposits. The case demonstrates that amyloidosis can lead not only to restrictive cardiomyopathy but obstruction of the outflow tract of the left ventricle.
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PMID:[Obstructive cardiomyopathy, caused by amyloidosis, associated with bone marrow myeloma]. 849 32

In two patients admitted to a geriatric ward cardiac failure was based on a thiamine deficiency (wet beri-beri). After supplementation with thiamine they recovered completely. The first patient had a insufficient diet of only canned food, whereas the second patient suffered from both alcoholism and insufficient nutrients. These geriatric patients suffered from a serious illness due to a combination of somatic, psychological, functional en social factors. Thiamine is a co-enzyme in many metabolic processes. A thiamine deficiency is defined as a serum concentration below 95 nmol/1. Other diseases associated with thiamine deficiency are the Wernicke-Korsakoff syndrome and peripheral polyneuropathy (dry beri-beri). Not only alcoholics but also elderly patients with malnutrition are at risk of thiamine deficiency and associated diseases. Do not hesitate to supplement thiamine in case of cardiac failure because of possible thiamine deficiency.
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PMID:[Failure in self care and heart failure, thiamine deficiency in geriatric patients]. 870 51

We report a case of systemic amyloidosis with the initial sign of polyneuropathy. The patient eventually developed heart failure, macroglossia, and ecchymoses 6 years later. Biopsies from the sural nerve and normal-looking skin both proved the existence of amyloid.
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PMID:Systemic amyloidosis with initial polyneuropathy. 893 50

An 82-year-old man was admitted to the hospital in the summer of 1995 due to dyspnea, peripheral edema, and a tingling sensation and muscle weakness in all extremities. Physical examination showed heart failure and polyneuropathy. Laboratory data showed a low concentration of vitamin B1 (10 ng/ml normal 23.8-45.9 ng/ml) and a low level of erythrocyte transketolase activity (0.58 IU/gHb normal 0.75-1.30 IU/gHb). A chest X-ray film revealed cardiomegaly (cardiothoracic ratio 57.1%) and ultrasonic cardiography revealed increased motion of the left ventricle. A diagnosis of beriberi was made. The disease in this case may have been caused by hard work in the summer heat. The patient was treated with thiamine and his symptoms and signs resolved within a few weeks. A search of the literature revealed no previous report of beriberi in a patient of this age, but reports of beriberi in older patients in Japan are more common now than in previous years. Beriberi should be included in the differential diagnosis of polyneuropathy in elderly patients.
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PMID:[An elderly patient with beriberi]. 926 56

We describe two Italian first cousins with familial amyloidotic polyneuropathy associated with transthyretin variant consisting of the substitution of alanine for glycine at codon 47 (TTR Ala-47), from a family with a history of cardiac failure. The 40-year-old patient presented with autonomic dysfunction and the 44-year-old cousin with congestive heart failure. Both developed sensorimotor and autonomic polyneuropathy. Since a similar clinical picture has been described in another Italian family, the cardiac involvement must be regarded as a salient and early feature of the TTR Ala-47 mutation.
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PMID:An Italian family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy. 1067 64

We report an autopsy case of a pedigree of familial amyloidotic polyneuropathy (FAP) with a mutation of isoleucine-50 transthyretin (ATTR Ser50Ile). A 47-year-old man started developing severe diarrhea and weight loss at age 41 years, followed by urinary incontinence, autonomic-nervous-system abnormalities and serious heart failure; the diagnosis of FAP (ATTR Ser50Ile) was made on the basis of genetic, histochemical and immunohistochemical analysis. Six years after the initial symptoms, he died of septic shock. Autopsy revealed suppurative peritonitis, perforation of the sigmoid colon and marked systemic amyloid deposition. The total amount of amyloid deposited in the heart was greatly increased and was much lower in the thyroid gland and kidneys compared with amyloid deposits in ordinary FAP (ATTR Val30Met). Amyloid deposition in peripheral vessel walls was prominent, particularly in lymphatics and veins. His elder sister, 54 years old, started to develop orthostatic hypotension at age 49 years, followed by dysesthesia, diarrhea and severe congestive heart failure. Endomyocardial biopsy revealed severe TTR-amyloid deposition; ultrastructural examination demonstrated that amyloid fibrils were deposited disproportionately and extended radially around microvessels.
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PMID:Familial amyloidotic polyneuropathy (ATTR Ser50Ile): the first autopsy case report. 1083 37

Cardiac failure in transthyretin (TTR) amyloidosis patients has been shown to be caused by different mutations in the TTR gene. In the present case, a 73-year-old man from Northern Sweden was evaluated for heart failure. Amyloid deposits were found in subcutaneous fat and in intestinal biopsies. The presence of a variant form of TTR was detected in the plasma by electrospray ionisation mass spectrometry (ESI-MS). The mutation was located by single-strand conformation polymorphism (SSCP) analysis of the TTR gene where a band shift was seen in exon 2. Direct sequencing of exon 2 revealed a single base-pair substitution (G1724T). This transversion results in an amino acid substitution at codon 45, alanine to serine (ATTR Ala45Ser). Mass spectrometry analysis excluded that the variant is a polymorphism, since no similar shift in molecular weight has been present in more than 200 control samples. Congo red and immunostaining of duodenum biopsy specimens confirmed the presence of systemic ATTR amyloidosis, and clinical examination, including echocardiography, found evidence of a restrictive cardiomyopathy. He had 10 years previously been operated for a bilateral carpal tunnel syndrome, but otherwise no symptoms were present that could be attributed to his systemic amyloidosis. No axonal polyneuropathy was noted at nerve conduction studies. This novel mutation is the second amyloidogenic TTR mutation found in the Swedish population.
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PMID:Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene: ATTR Ala45Ser. 1084 18


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