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)

An Omani infant boy who presented in the neonatal period with cardiac failure secondary to hypertrophic cardiomyopathy is reported. He subsequently progressed to show features of a metabolic disorder with multisystem involvement and was diagnosed to have Type II glycogenosis (Pompe's disease). The differential diagnosis and management of metabolic cardiomyopathy are outlined.
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PMID:An unusual presentation of metabolic cardiomyopathy due to Pompe's disease. 1193 30

Cachexia, i.e. body wasting, has long been recognised as a serious complication of chronic illness. The occurrence of wasting in chronic heart failure (CHF) has been known for many centuries, but it has not been investigated extensively until recently. Cardiac cachexia is a common complication of CHF which is associated with poor prognosis, independently of functional disease severity, age, measures of exercise capacity, and left ventricular ejection fraction. Patients with cardiac cachexia suffer from generalised loss of lean tissue, fat tissue, as well as bone tissue. Cachectic CHF patients are weaker and fatigue earlier. This is due to both reduced skeletal muscle mass and impaired skeletal muscle quality. Concerning the pathophysiology of cardiac cachexia, there is increasing evidence that neurohormonal and immune abnormalities may play a crucial role. Cachectic CHF patients have raised plasma levels of norepinephrine, epinephrine, and cortisol, and they show high plasma renin activity and increased plasma aldosterone levels. A number of studies have also shown that cardiac cachexia is linked to raised plasma levels of inflammatory cytokines, such as tumor necrosis factor alpha. The available evidence suggests that cardiac cachexia is a multifactorial neuroendocrine and metabolic disorder with a poor prognosis. A complex imbalance of different body systems, termed catabolic/anabolic imbalance, is likely to be responsible for the development of the wasting process. It is hoped that a better understanding of the pathophysiological mechanisms involved in cardiac cachexia will lead to novel therapeutic strategies in the (near) future.
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PMID:The syndrome of cardiac cachexia. 1216 9

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

Ascites is a metabolic disorder of modern broilers that is distinguished by cardiopulmonary insufficiency in the face of intense oxygen demands of rapidly growing tissues. Broilers with ascites exhibit sustained elevation of pulmonary arterial pressure and right ventricular hypertrophy, the end result of which is heart failure. It has been shown that mitochondrial function is impaired in broilers with ascites. In the current study, mitochondrial matrix protein levels were compared between ascites-resistant line broilers and ascites-susceptible line broilers with and without ascites using two-dimensional (2-D) gel electrophoresis. One hundred seventy-two protein spots were detected on the gels, and 9 of the spots were present at different levels in the 4 groups of broilers. These 9 protein spots were selected for identification by mass spectrometry. Two of the spots were found to contain single mitochondrial matrix proteins. Both mitochondrial matrix proteins, the dihydrolipoamide succinyltransferase component of the 2-oxoglutarate dehydrogenase complex and the alpha-subunit of mitochondrial trifunctional enzyme, were present at higher levels in ascites-resistant line broilers with ascites in the present study. The elevated levels of 2 key proteins in aerobic metabolism in ascites-resistant line broilers with ascites observed in the present study suggests that the mitochondria of broilers with this disease may respond inappropriately to hypoxia.
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PMID:Differential expression of cardiac muscle mitochondrial matrix proteins in broilers from ascites-resistant and susceptible lines. 1591 81

Familial hypercholesterolemia (FH) is a dominant inherited disease of low-density lipoprotein (LDL) metabolism caused by mutations of LDL receptors mainly located in the liver. This metabolic disorder is responsible for severe cardiovascular disease, from coronary lesions to chronic heart failure (CHF). Liver transplantation in homozygous FH provides the missing functional LDL receptors and thus partially restores LDL receptor activity to more than 50% of normal. Combined heart and liver transplantation was successfully performed in a homozygous FH patient with end-stage heart failure. Herein we report our experience with a heterozygous male patient with terminal CHF, and review data from the literature on short- and long-term results of such procedures.
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PMID:Liver transplant combined with heart transplant in severe heterozygous hypercholesterolemia: report of the first case and review of the literature. 1596 90

Alkaptonuria (endogenous ochronosis) is a rare metabolic disorder caused by a deficiency of homogentisic acid oxidase, an enzyme responsible for the metabolic degradation of tyrosine. Patients with alkaptonuria commonly present with joint pain owing to degenerative arthritis. Other affected patients may present with pigmentation of the ear cartilage and sclera. This article reports a case of aortic stenosis associated with ochronosis in a 48-year-old man who presented with severe cardiac failure. He had no previous diagnosis of alkaptonuria, which was confirmed by mass spectrometry analysis of urine. The pathogenesis of cardiovascular ochronosis is unclear, but is probably related to the extensive extracellular deposits of ochronotic pigment in the cardiac tissue.
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PMID:Aortic stenosis in cardiovascular ochronosis. 1721 54

Diastolic dysfunction is associated with a high rate of morbidity and mortality and has a high prevalence in patients with diabetes. Aim of the study was to investigate the prevalence of diastolic dysfunction in patients with newly detected glucose metabolism disorder (GMD) submitted for coronary angiography. Oral glucose tolerance test, echocardiography, and tissue Doppler imaging were performed in patients referred to coronary angiography. Prevalence of diastolic dysfunction was 97, 88, and 74% in the known diabetes, newly detected diabetes, and new diagnosed impaired glucose tolerance group, respectively. This is higher than previously reported. Severity of diastolic dysfunction was associated with higher 2-h plasma glucose levels and with new diagnosed diabetes. Screening patients with newly detected GMD for diastolic dysfunction may identify patients with double risk for cardiovascular morbidity and mortality and this group might be a target population to avoid development heart failure.
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PMID:Newly detected glucose disturbance is associated with a high prevalence of diastolic dysfunction: double risk for the development of heart failure? 1927 55

Aging is a process of irreversible decline in physiological function over the time. Several postulated mechanisms for aging include cumulative DNA damage, mitochondrial dysfunction, telomere loss, altered gene expression, and oxidative damages. Those factors affecting the aging process were implicated in hypertension, diabetes, lipid metabolic disorder, heart failure, smoking and psychological stress and so on. Subjects with those disorders are manifested the increased insulin resistance and oxidative stress which are more likely to accelerate aging, atherosclerosis and premature death. Both are also associated with accelerated telomere attrition in leucocytes and chronicle the cumulative burden of oxidative stress and inflammation over a life course. Here, recent evidences including our data about the relationship between telomere attrition and age-related disorders are introduced. Finally, we identify improving life-style as well as pharmacological interventions as potent anti-aging effects to be important for keeping of healthy long life.
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PMID:[Role of the environmental factors on aging]. 1959 Dec 81

Diabetes is a major metabolic disorder and leading cause of morbidity and mortality in the developed world. Indeed, vascular complications are the major cause of mortality in diabetics. Impaired glucose metabolism has been implicated as a cause for the observed cardiac dysfunction in diabetics. Dramatic increase in polyol pathway flux during hyperglycemia could cause damage to blood vessels that leads to heart failure. Recent investigations and patent applications suggest the interesting and important role of polyol pathway enzyme, aldose reductase (AR) in mediating oxidative stress-induced inflammatory signals. AR inhibitors have been shown to prevent or delay the onset of cardiovascular complications such as ischemic injury, restenosis and atherosclerosis. In this review, we have focused on describing the pivotal role of AR in the pathogenesis of cardiovascular complications and use of AR inhibitors as emerging therapeutic strategies in preventing cardiovascular complications.
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PMID:Aldose reductase inhibition: emerging drug target for the treatment of cardiovascular complications. 1988 61

Cystinosis is a rare autosomal recessive metabolic disorder characterised by an intracellular accumulation of cystine leading to severe organ dysfunction. It affects renal function, has extra-renal complications but has rarely been associated with cardiac disease. Renal transplantation and cysteamine have dramatically improved the prognosis in the nephropathic form. We present the case of a young adult Caucasian female diagnosed with nephropathic cystinosis and receiving haemodialysis who subsequently developed dilated cardiomyopathy. She presented with acute cardiac failure occurring early after stillbirth following an unplanned pregnancy when her cysteamine had been stopped. Transthoracic echocardiography showed typical features of dilated cardiomyopathy which was absent on pre-pregnancy scans. Investigations failed to identify an underlying cause for her cardiomyopathy. She responded to conventional treatment and currently has had full recovery of her cardiac function confirmed on follow-up echocardiography. As cardiomyopathy rarely co-exists with cystinosis, we believe that this case represents pregnancy-associated cardiomyopathy rather than direct involvement by her cystinosis, particularly as a minority of pregnant patients with associated cardiomyopathy develop heart failure early before the conventional period for peripartum cardiomyopathy. Patient characteristics and maternal outcomes are similar, albeit with higher risk of premature delivery suggesting the same underlying pathological process.
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PMID:Pregnancy-associated cardiomyopathy occurring in a young patient with nephropathic cystinosis. 2019 11


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