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)

The ventricular assist device (VAD) is a mechanical pump that has been shown to be an effective modality of cardiac support in patients with heart failure refractory to pharmacologic intervention and who are awaiting cardiac allograft transplantation. Neuropathologic findings in these patients have not been well described. We retrospectively reviewed 2,632 autopsy reports (between 1990 and 2000) and found 64 patients who received VADs. Of these 64 patients, brain and spinal cord tissue was available for review in 33 patients (25 males and eight females; age range, 4 to 69 years; mean age, 52 years). The study group was composed of these 33 patients. Ventricular assist devices were in place from one to 603 days (mean 49 days). Twenty-five patients had left VAD, three had right VAD, and five had biventricular VADs. Brain weights ranged from 928 g to 1,740 g (mean 1,325 g). The most common central nervous system pathologic findings included infarct (N = 23; 70%), acute neuronal necrosis (N = 22; 67% focal and N = 1; diffuse anoxic encephalopathy), hemorrhage (N = 14; 42%), and herniations (N = 7; 21%). Two patients had no neuropathologic findings at autopsy. Cause of death was central nervous system-related in eight patients (24%) including six with massive parenchymal hemorrhage and herniations, one with brainstem infarction, and one with air embolism (radiographically diagnosed). The most common causes of death in the remaining 25 patients included sepsis (n = 10; 30%), pneumonia (n = 4; 12%), and embolic events with widespread infarcts (n = 4; 12%). The most common neuropathologic findings in patients with VAD were related to ischemia and infarction. In a significant subset of patients, central nervous system pathology, particularly hemorrhage with herniation, was the primary cause of death. Ann Diagn Pathol 5:67-73, 2001.
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PMID:Neuropathology associated with ventricular assist devices: an autopsy series of 33 patients. 1129 90

Infants with Down syndrome are known to have a high frequency of birth defects, particularly cardiac and gastrointestinal defects. Mental retardation of different degrees is common, but accompanying central nervous system malformations are rare. We report a boy born spontaneously in the 37th postconceptional week with multiple malformations: microcephaly, hypertelorism, blepharophimosis, medial cleft palate, micrognathia, omphalocele, and pathologic palmar and plantar creases. Cardial sonography revealed a ventricular septal defect and mild pulmonary stenosis. Cranial magnetic resonance imaging demonstrated a general but infratentorial stressed brain atrophy with widening of the inner and outer cerebrospinal fluid spaces and dysplasia of the corpus callosum. Chromosomal analysis showed a free trisomy 21. The boy had muscular hypotonia and developed severe motor and mental retardation, accompanied by microsomia and generalized epileptic seizures. At age 8 months, he died of sudden nocturnal respiratory and cardiac failure. The peculiarity of this case is the combination of Down syndrome with midline developmental defects (callosal dysplasia, medial cleft palate, omphalocele) accompanied by severe malformative encephalopathy. There are no previous reports of this combination, but there are genetic links between Down syndrome and midline defects concerning the Drosophila single-minded (sim) gene. The expression pattern of the human sim corresponding gene suggests that it might be involved in the pathogenesis of midline defects in Down syndrome.
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PMID:Midline developmental anomalies in Down syndrome. 1217 71

Carnitine deficiency syndrome is a rare and potentially fatal but treatable metabolic disorder. I present a 6-year-old girl with primary systemic carnitine deficiency (SCD) proved by very low plasma carnitine level. Her major clinical features included neonatal metabolic acidosis, epilepsy, recurrent infections, acute encephalopathy, and dilated cardiomyopathy with heart failure before 4 years of age. Other features such as hepatomegaly, hypoglycemia, or hyperammonemia were noted around 5 years of age. Her health improved with resolving cardiomyopathy after the use of L-carnitine (50-100 mg/kg/day). Patients with SCD have high morbidity and mortality. If SCD is suggested as a cause of Reye-like syndrome or dilated cardiomyopathy, L-carnitine therapy should be initiated as a diagnostic test immediately, until the definite diagnosis is confirmed.
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PMID:Primary systemic carnitine deficiency presenting as recurrent Reye-like syndrome and dilated cardiomyopathy. 1263 40

Patients with hyperthyroidism usually present with symptoms of hypermetabolism with or without goitre and/or eye signs. Occasionally, however, the chief complaints are not immediately suggestive of hyperthyroidism. Patients with hyperthyroidism are described who presented with such atypical manifestations as periodic muscular paralysis, myasthenia, myopathy, encephalopathy, psychosis, angina pectoris, atrial fibrillation, heart failure without underlying heart disease, skeletal demineralization, pretibial myxedema, unilateral eye signs, and pitting edema of the ankles.
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PMID:ATYPICAL MANIFESTATIONS OF HYPERTHYROIDISM. 1417 5

During experimental hypertensive cardiac hypertrophy, the heart energy metabolism reverts from the normal adult type that obtains the majority of its requirement for adenosine triphosphate (ATP) from metabolism of fatty acids and oxidative phosphorylation (OXPHOS), to the fetal form, which metabolizes glucose and lactate. Mitochondrial synthesis and function require an estimated 1000 polypeptides, 37 of which are encoded by mitochondrial (mt) DNA, the rest by nuclear (n) DNA. Inherited or acquired aberrations of either mtDNA or nDNA mitochondrial genes cause mitochondrial dysfunction. Tissue expression of OXPHOS enzyme defects is often heterogeneous. As a result, cardiomyopathy and cardiac failure are frequent but unpredictable complications of mitochondrial encephalopathy, neuropathy, and myopathy. Several nuclear genes that encode mitochondrial proteins have been sequenced and specific defects associated with nuclear genes that affect mitochondrial structure and function have been linked to hypertrophic and dilated cardiomyopathies and to cardiac conduction defects. Thyroid hormone and exercise stimulate expression of a nuclear respiratory factor (NRF) that induces the nuclear gene TFAM, which encodes the mitochondrial transcription factor A that controls mitochondrial replication and transcription. TFAM-null mouse embryos lack mitochondria and fail to develop a heart. Mitochondrial dysfunction enhances the generation of radical oxygen species (ROS), which damage mtDNA, nDNA, proteins, and lipid membranes. Mice lacking the mitochondrial antioxidant enzyme manganese-superoxide dismutase (SOD) develop dilated cardiomyopathy. Palliative mitochondrial therapy with L-acetyl-carnitine and coenzyme Q10 improves cardiac function in patients with cardiomyopathy. Cure is only achievable by mitochondrial gene therapy. Experimental direct gene therapy uses vectors or targeting signal sequences to insert genes into mtDNA; indirect gene therapy employs viral or non-viral vectors to introduce genes into nDNA. Clinical repair of damaged somatic and germline genes that encode mitochondrial proteins may soon be within reach.
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PMID:Review: Mitochondrial medicine--cardiomyopathy caused by defective oxidative phosphorylation. 1458 51

Ifosfamide is relatively well tolerated but it can be associated occasionally with life-threatening complications such as arrhythmias and heart failure, severe encephalopathy and hemorrhagic cystitis. Mesna administration can control the urothelial toxicity of ifosfamide, but it is without effect on the other complications. Other preventive measures, such as amifostine or methylene blue administration, have not yet been adequately evaluated in a sufficient number of patients. Clinicians prescribing ifosfamide, especially in high doses, should be watchful for early signs of toxicity in order to discontinue ifosfamide administration soon enough to avoid development of major toxicity.
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PMID:Side effects of ifosfamide. 1458 40

We present a case of an obese young man who developed ischemic hepatitis, severe coagulopathy, acute renal failure, and encephalopathy. Heart failure and hypovolemia were absent. Oxygen arterial saturation was very low, between 77% and 99% during the day, with no history of respiratory failure. A diagnosis of obstructive sleep apnea was made clinically and confirmed by performing formal polysomnography. The polysomnographic study showed multiple episodes of apneas and hypopneas with severe oxygen desaturation. The patient was treated with continuous positive airway pressure through a nose mask and clinical manifestations related to profound nocturnal desaturation were ameliorated. He was discharged 32 days after admission with normal results of laboratory tests. This case report is presented to support the hypothesis that hypoxic hepatitis was directly related to severe arterial hypoxemia.
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PMID:A case of ischemic hepatitis. 1538 90

Vogt-Koyanagi-Harada (VKH) syndrome is a rare entity characterized by depigmentation of the skin and eye lashes, chronic granulomatous iridocyclitis and exudative retinal detachment, as well as aseptic meningitis and encephalopathy. We describe a 22-year-old male intravenous drug addict, infected with hepatitis B and C virus, suffering from this syndrome, associated with progressive renal sclerosis, malignant hypertension, heart failure and chronic myeloproliferative disorder. The association with these various diseases is discussed and relevant cases are reviewed.
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PMID:Vogt-Koyanagi-Harada syndrome associated with renal failure: a case report. 1673 27

Congenital absence of the portal vein (CAPV) requires liver transplantation when encephalopathy develops. However, transplantation has technical difficulties because no collateral circulation exists except for the portosystemic shunt. Ligating the shunt will cause disastrous mesenteric venous congestion. We report a 19-month-old female infant with CAPV, who had portosystemic encephalopathy and cardiac failure, and underwent living donor liver transplantation with a partial clamp technique using a vein graft. This is the first case of successful liver transplantation for CAPV with cardiac failure.
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PMID:Living donor liver transplantation for congenital absence of the portal vein in a child with cardiac failure. 1710 45

A 49-year-old female cardiomyopathic patient with heart, hepatic, and renal failure and lactic acidosis was transferred to the intensive care unit without a unifying diagnosis. She was of short stature (145 cm tall), had difficulty in hearing, a past history of complete atrioventricular block, and had received a permanent pacemaker. She had been diagnosed and treated as dilated cardiomyopathy by her primary doctor. Treatment in the intensive care unit for 21 days including plasma exchange, continuous hemodiafiltration, artificial ventilation, and administration of catecholamine, carperitide, and a large amount of coenzyme Q10 (210 mg/day) improved the symptoms. Genetic analysis using mitochondrial DNA from leukocytes and sternocleidomastoid muscle revealed a 3243A>G mutation in the mitochondrial tRNA(Leu (UUR)) gene, which is related to mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). The patient recovered through intensive care and could be discharged from hospital without any sequelae. This case was mitochondrial cardiomyopathy diagnosed from the symptoms of multiple organ dysfunction syndrome. Cardiomyopathy due to the mutation of mitochondrial DNA is not a common disease. However, it should be considered as a possible cause of heart failure.
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PMID:A surviving case of mitochondrial cardiomyopathy diagnosed from the symptoms of multiple organ dysfunction syndrome. 1768 57


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