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)

Asian Indians who have settled overseas and those in urban India have increased risk of coronary events. Reasons for this increased risk are thought to be genetic but are yet unclear. Advances in molecular cardiology have revealed a number of single nucleotide polymorphisms associated with atherosclerosis. In this review, gene polymorphisms that have been associated with coronary diseases among Indians are discussed. Topics include the genes involved in hyperlipidemia, hypertension, and homocysteine. Mutations in the low-density lipoprotein receptor (LDLR) gene resulting in familial hypercholesterolemia have strong association with premature atherosclerosis. Common polymorphism of the apolipoproteins (apo) B-100 and E genes have been associated with variation in lipid and lipoprotein levels. Recently identified polymorphisms in the apoC3 (T-455C, C-482T), and cholesteryl ester transfer protein (CETP) (B1/B2 allele) genes are associated with increased triglycerides and reduced high-density lipoprotein (HDL)-levels, a feature now also common among Asian Indians. Angiotensin-converting enzyme-deletion (DD) polymorphism has been shown to influence beta-blocker therapy in heart failure. Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and methionine synthase (A2756G) genes cause hyperhomocysteinemia, an independent risk factor for atherothrombosis. As the genetics of atherosclerosis continues to evolve, these factors along with the newer emerging factors may become a part of the routine assessment, aiding prediction of future coronary events.
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PMID:Gene polymorphism and coronary risk factors in Indian population. 1247 35

Pacemaker (PM)-related thrombosis is an infrequent complication of pacing. We present the case of a 58-year-old man with heart failure and atrial fibrillation who had recurrent episodes of PM lead thrombosis while undergoing anticoagulation therapy. The patient was admitted to the hospital with complaints of dyspnea and palpitation. Echocardiography revealed normal right ventricular dimensions and an enlarged left ventricle with poor contractility and an ejection fraction of 20%. Transesophageal echocardiography demonstrated a large, mobile thrombus in the right atrium that was attached to the PM lead. The patient was successfully treated with a thrombolytic agent. Genetic tests revealed that the patient was a heterozygous carrier of the methylenetetrahydrofolate reductase (MTHFR) gene mutation.
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PMID:Recurrent pacemaker lead thrombosis in a patient with gene polymorphism: a rare case treated with thrombolytic therapy. 2351 42

Trans-esophageal echocardiography (TEE) revealed a left atrial appendage (LAA) thrombus in an 84-year-old woman with nonvalvular atrial fibrillation not known before our evaluation. In her medical history, there were hypertension, dyslipidemia and a previous pulmonary embolism. She was taking warfarin at time of our evaluation and presented signs and symptoms of heart failure. Together with heart failure treatment, intravenous anticoagulation with unfractionated heparin was initiated. Treatment was complicated by additional right lower limb embolic event and the LAA thrombus remained unchanged. Testing revealed heterozygosity for both the factor V Leiden and the methylenetetrahydrofolate reductase C677T mutations inducing resistance to activated protein C. The patient refused transcatheter closure of the left atrial appendage.
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PMID:Thrombophilia-Related Complications in the Treatment of a Left Atrial Appendage Thrombus: A Case Report. 2846 6

Thrombus in the heart is known to be one of the many sequelae of anterior wall myocardial infarction, atrial fibrillation and coagulation disorders. However, biventricular thrombi are relatively rarely found, even in conditions with a high possibility of thrombus formation. We report the case of a 75-year-old-woman with newly diagnosed systolic heart failure secondary to a nonischemic cardiomyopathy, who was found to have large biventricular thrombi. Further coagulopathy work-up revealed that she was heterozygous for the prothrombin 20210G/A and homozygous for the methylenetetrahydrofolate reductase (MTHFR) 677C/T mutations. We, herein, review and discuss previous case reports and published literature regarding ventricular thrombosis and its treatment. To the best of our knowledge, this is the first case of biventricular thrombosis with prothrombin 20210G/A and MTHFR 677C/T mutations.
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PMID:Biventricular Thrombi in a Patient With Heart Failure With Severely Reduced Ejection Fraction and Heterozygous Prothrombin 20210G/A and Homozygous Methylenetetrahydrofolate Reductase 677C/T Mutations. 2989 Oct 45