Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020473 (hyperlipidemia)
 15,891 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We summarize recent advances in the clinical genetics of hypercholesterolemia, hypertrophic cardiomyopathy (HCM), and lethal arrhythmia, all of which are monogenic cardiovascular diseases being essential to understanding the heart and circulatory pathophysiology. Among the issues of hypercholesterolemia which play a pivotal role in development of vascular damages, familial hypercholesterolemia is the common genetic cardiovascular disease; in addition to identifying the gene mutation coding low-density lipoprotein receptor, lipid kinetics in autosomal recessive hypercholesterolemia as well as in proprotein convertase subtilisin/kexin 9 gene mutation were recently demonstrated. As for HCM, some gene mutations were identified to correlate with clinical manifestations. Additionally, a gene polymorphism of the renin-angiotensin system in development of heart failure was identified as a modifier gene. The lethal arrhythmias such as sudden death syndromes, QT prolongation, and Brugada syndrome were found to exhibit gene mutation coding potassium and/or sodium ion channels. Interestingly, functional analysis of these gene mutations helped to identify the role of each gene mutation in developing these cardiovascular disorders. We suggest considering the genetic mechanisms of cardiovascular diseases associated with hyperlipidemia, myocardial hypertrophy, or lethal arrhythmia in terms of not only clinical diagnosis but also understanding pathophysiology of each disease with therapeutic aspects.
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PMID:Current perspectives in genetic cardiovascular disorders: from basic to clinical aspects. 2390 13

Mitochondrial disorders (MIDs) require biochemical or genetic investigations for being diagnosed. In some cases, however, the diagnosis can be suspected upon the syndromic phenotype or upon clinical presentation and family history, as in the following case. The patient was a 74-year-old male admitted for worsening of pre-existing left-sided ptosis and ophthalmoparesis after a birthday party. The history was positive for arterial hypertension, hypertrophic cardiomyopathy with systolic dysfunction, diabetes-type 2, mild renal insufficiency, thyroiditis, and polyneuropathy. Instrumental investigations additionally revealed hepatopathy, hyperlipidemia, hyperuricemia, bifascicular block, white matter lesions, and subacute stroke. Systolic dysfunction resolved upon adequate cardiac treatment. On hospital day 11 the patient suddenly developed asystole. He was successfully resuscitated but died a few hours later from acute myocardial infarction. Surprisingly, a more extensive family history was positive for myopathy (patient, brother, daughter), neuropathy (patient), hypoacusis (patient), Parkinson syndrome (mother), spasticity (son), diabetes (patient, son), renal failure (patient), and generalized atherosclerosis (patient). The individual and family history was strongly suggestive of an MID. In conclusion, individual and family history may strongly suggest MID. Phenotypic variability may be high between family members affected by an MID. MID may be associated with an increasing atherosclerotic risk lastly resulting in coronary heart disease and death.
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PMID:Diagnosing Mitochondrial Disorder without Sophisticated Means. 2661 82


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