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)

In single cases mitochondrial disorders may manifest as pancreatitis, but recurrent, chronic pancreatitis with exacerbations of at least 15 times without morphological alterations of the pancreas but concomitant diabetes mellitus has not been reported. In a 57-year-old Caucasian male mitochondrial disorder was diagnosed at the age of 49 years upon epilepsy with generalized and focal seizures, cognitive decline, migraine, mitochondrial myopathy, polyneuropathy, diabetes mellitus, hypokalie-mia, hyperlipidemia, atrial fibrillation, heart failure, sicca syndrome, recurrent pancreatitis, chronic diarrhea, polydipsia, hyperhidrosis, steatosis hepatis, anemia, thrombopenia, an abnormal lactate stress test, and a muscle biopsy showing ragged-red muscle fibers, single completely COX-negative fibers, target fibers, increased number of sarcoplasmatic lipid droplets, but normal mitochondrial morphology on electron microscopy. Between the age of 33 years and the age of 44 years, at least 15 episodes of pancreatitis, manifesting as severe abdominal pain, and elevated exocrine pancreatic enzymes, but without morphological alterations of the pancreas, responding well to H2-blockers and food restriction had occurred. Recurrent pancreatitis without morphological alterations of the pancreas may be a feature of multisystem mitochondrial disorder resulting in diabetes mellitus. Physicians should familiarize with pancreatitis as a manifestation of a mitochondrial disorder and mitochondrial disorder should be excluded in patients with pancreatitis.
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PMID:Recurrent pancreatitis as a manifestation of multisystem mitochondrial disorder. 1791 91

The X-linked McLeod neuroacanthocytosis syndrome (MLS) has originally been denoted as 'benign' McLeod myopathy. We assessed the clinical findings and the muscle pathology in the eponymous index patient, Hugh McLeod, and in nine additional MLS patients. Only one patient had manifested with neuromuscular symptoms. During a mean follow-up of 15 years, however, eight patients including the initial index patient showed elevated skeletal muscle creatine kinase levels ranging from 300 to 3000 U/L, and had developed muscle weakness and atrophy. Two patients had disabling leg weakness. Muscle histology was abnormal in all 10 patients. Clear but unspecific myopathic changes were found in only four patients. All patients, however, had neurogenic changes of variable degree. Post-mortem motor and sensory nerve examinations support the view that muscle atrophy and weakness are predominantly due to an axonal motor neuropathy rather than to a primary myopathy. Multisystem manifestations developed in eight patients at a mean age of 39 years. Three patients manifested with psychiatric features comprising schizophrenia-like psychosis and personality disorder, two presented with generalized seizures and one with chorea. During follow-up, seven patients developed chorea, six had psychiatric disorders, five had cognitive decline and three had generalized seizures. Five patients died because of MLS-related complications including sudden cardiac death, chronic heart failure and pneumonia between 55 and 69 years. In conclusion, our findings confirm that MLS is not a benign condition but rather a progressive multisystem disorder sharing many features with Huntington's disease.
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PMID:McLeod myopathy revisited: more neurogenic and less benign. 1805 95

Although linked with cardiac dysfunction, the association of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) and pulmonary artery hypertension (PAH) has not been previously described. PAH and right ventricular heart failure were identified by echocardiography in a 3-year-old boy with a history of hypotonia, microcephaly and developmental delay. He initially presented with a 10-day history of dyspnoea, dependent oedema and reduced oral intake. Lactic acidosis was noted on serial arterial blood sampling and cerebrospinal fluid. Muscle biopsy demonstrated cytochrome-c oxidase-positive 'ragged-red' fibres consistent with MELAS; subsequent analyses revealed the m.3243A>G point mutation most commonly associated with MELAS. The mutation was heteroplasmic, representing 92% of the total mtDNA from a lung sample. Nitric oxide and epoprostenol were administered without significant clinical or echocardiographic improvement of his PAH. A 'mitochondrial cocktail' including biotin, riboflavin, carnitine and coenzyme Q10 also was provided. Five months after presentation, he developed seizures; MRI imaging of his brain demonstrated multiple focal lesions. His clinical status worsened with increasing cardiopulmonary failure. He died two months later. Although therapy for both MELAS and PAH remains limited, recent investigations suggest a beneficial role for l-arginine in both conditions, implying a possible common pathophysiology. Mitochondrial diseases such as MELAS should be considered in cases of idiopathic PAH, particularly when associated with multisystem involvement including short stature, hearing loss, renal dysfunction, retinopathy, diabetes mellitus, migraines, seizures, ophthalmoplegia, fatigability and weakness.
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PMID:Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene (m.3243A>G). 1818 Oct 29

Hypocalcemia due to hypoparathyroidism (HPT) is a late complication of iron-overloaded patients with b-thalassaemia major (TM). The majority of patients have mild disease with parasthesias, while in the more severe form tetany, seizures or cardiac failure may occur. In the last 20 years we observed heart failure in 2 out of 38 (5.2%) TM patients (aged 18 and 22 years) with hypocalcemia secondary to HPT associated to iron overload. Calcium supplementation and vitamin D induced correction of hypocalcemia and resulted in an improvement of cardiac function. Calcium plays a key role in the maintenance and regulation of normal cardiac function. Extra-cellular calcium is indispensable for the contractile process since the sarcoplasmatic reticulum is unable to maintain a sufficient amount of calcium to trigger myocardial contraction. In conclusion, our observations stress the importance of a regular iron chelation therapy, adherence to treatment of endocrine complication and regular follow-up of TM patients with hypocalcemia.
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PMID:A rare cause of heart failure in iron-overload thalassaemic patients-primary hypoparathyroidism. 1840 23

Brain natriuretic peptide(BNP) and the N-terminal pro-brain natriuretic peptide (NTproBNP)are important cardiac biomarkers secreted by the heart in response to increased ventricular wall stress associated with heart failure. The aim of our case series was to prospectively evaluate the influence of vagus nerve stimulation (VNS) on the release of NTproBNP.Three children with medically refractory epilepsy and scheduled for implantation of the VNS device were included. Pre-implantation,NT-proBNP measurements were taken at two different occasions after seizure-free periods of at least three days. After implantation,NT-proBNP measurements were taken every 2 to 4 weeks, immediately before and immediately after up-regulation of the VNS. After VNS implantation, the pattern of NT-proBNP increase was consistent for all children. In a 12 year-old girl, NT-proBNP concentrations reached a maximum of an almost 10-fold increase. Thereafter, NTproBNP concentrations returned continuously to baseline. In a three year-old boy, NT-proBNP concentrations reached a maximum of an almost 7-fold increase, accompanied by manifestation of side effects(voice alterations, snoring).Thereafter, NT-proBNP concentrations decreased to almost 4-fold those at baseline. In an 8 year-old girl, NT-proBNP concentrations increased slightly without yet reaching a plateau. This case series suggests that NT-proBNP concentrations increase in response to VNS-induced autonomic influences involving endocrinological stress-response mechanisms typically associated with cardiac injury.Especially in patients with pre-existing cardiovascular dysfunction,measurement of NT-proBNP concentrations may help to identify patients with high baseline concentrations and possibly at greater risk for cardiac side effects.
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PMID:N-terminal pro-brain natriuretic peptide (NT-proBNP) release in children with vagus nerve stimulation. A prospective case series. 1858 Oct 38

Hunter disease (mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disease caused by deficiency of iduronate-2-sulfatase. Accumulation of chondroitin sulfate B and heparan sulfate in various tissues is the biochemical consequence of MPS II. Children with Hunter disease are normal at birth, and symptoms occur between 2 and 10 years of age. Typical symptoms include coarse facies with enlarged tongue and prominent forehead as well as a short, stocky built stature with short neck. The cardiovascular, respiratory and gastrointestinal systems may be affected, and oral, dermatological and psychiatric as well as neurological complications are described. Life expectancy is markedly reduced and may be limited to 12 years for severely affected patients. The most common causes of death are airway obstruction and cardiac failure. The most severe symptoms may result from neurological symptoms or complications including hydrocephalus, spinal cord compression, cervical myelopathy, optic nerve compression, and hearing impairment. Patients may also develop carpal tunnel syndrome, sleep apnoea, seizures or mental retardation. This review describes characteristic neurological manifestations in MPS II and its underlying pathophysiology. In addition, an appraisal is given whether or not enzyme replacement therapy may be able to improve in particular the neurological symptoms of Hunter disease.
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PMID:Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. 1861 89

Cases of true intracranial arteriovenous malformations (AVMs) presenting over a 25 year period were reviewed in order to achieve a better understanding of the behaviour and management of AVMs in children. There were 69 cases, presenting with haemorrhage (78%), seizures (13%) cardiac failure (3%) and focal signs with or without headache (6%). It was less common to present under six years of age. CT scanning, where performed, always demonstrated an abnormality, but this was suggestive of an AVM in less than one third. By contrast, angiography defined the lesion in 82% of initial studies. 59 patients underwent a surgical procedure directed at their AVM or an associated haematoma. Total AVM excision was obtained in 65%, with none of these later rebleeding. Three patients presenting solely with seizures were not operated upon initially, but underwent successful resections of their lesions after later haemorrhages. There were 6 (9%) deaths in the series, with focal deficits in 52% of survivors at last follow up. In the operative group these figures were 3% and 51%, respectively. None of the eight patients operated upon prior to a clinical bleed suffered a new neurological deficit. The role of stereotactic radiosurgery, although not used in any of our cases, is discussed. We believe that our results support an aggressive surgical approach to childhood AVMs, regardless of presentation, given the significant risk of morbidity from a later bleed, and the lack of a clearly better outcome with expectant management or irradiation.
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PMID:Intracranial arteriovenous malformations in childhood: presentation, management and outcome. 1863 74

Vein of Galen malformations are rare vascular abnormalities, which develop during gestation and usually present in the neonatal period or early childhood. Symptoms are due to high output cardiac failure, hydrocephalus, seizures or haemorrhage. We report a case where a patient remained symptom free until presentation following a haemorrhage at the age of 47 years.
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PMID:Vein of Galen malformation presenting in adulthood. 1866 9

People with epilepsy may have abnormal cardiac function. This has been linked to a greater incidence of sudden unexpected death in epilepsy (SUDEP). In the present review, we assess the evidence linking cardiac failure to SUDEP, and propose the use of the maximal pentylenetetrazol seizure test to model SUDEP in animals to identify causal links between cardiac failure and SUDEP. We also discuss recent claims on the use of omega-3 polyunsaturated fatty acids to reduce the incidence of SUDEP because of their cardioprotective and anticonvulsant effects.
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PMID:Assessing the link between omega-3 fatty acids, cardiac arrest, and sudden unexpected death in epilepsy. 1899 44

Parvalbumins (PVs) are acidic, intracellular Ca(2+)-binding proteins of low molecular weight. They are associated with several Ca(2+)-mediated cellular activities and physiological processes. It has been suggested that PV might function as a "Ca2+ shuttle" transporting Ca2+ from troponin-C (TnC) to the sarcoplasmic reticulum (SR) Ca2+ pump during muscle relaxation. Thus, PV may contribute to the performance of rapid, phasic movements by accelerating the contraction-relaxation cycle of fast-twitch muscle fibers. Interestingly, PVs promote the generation of power stroke in fish by speeding up the rate of relaxation and thus provide impetus to attain maximal sustainable speeds. However, immunological monitoring of diverse tissues demonstrated that PVs are also present in non-muscle cells. The axoplasmic transport and various intracellular secretory mechanisms including the endocrine secretions seem to be controlled by the Ca2+ regulation machinery. Any defect in the Ca2+ handling apparatus may cause several clinical problems; for instance, PV deficiency alters the neuronal activity, a key mechanism leading to epileptic seizures. Moreover, atypical relaxation of the heart results in diastolic dysfunction, which is a major cause of heart failure predominantly among the aged people. PV may offer a unique potential to correct defective relaxation in energetically compromised failing hearts through PV gene transfer. Consequently, PV gene transfer may present a new therapeutic approach to correct cellular disturbances in Ca2+ signaling pathways of diseased organs. Hence, PVs appear to be amazingly useful candidate proteins regulating a variety of cellular functions through action on Ca2+ flux management.
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PMID:A Ca(2+)-binding protein with numerous roles and uses: parvalbumin in molecular biology and physiology. 1927 59


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