Corey Snyder, Amber L Beitelshees, Devyani Chowdhury
Familial Hypercholesterolemia (FH) is an autosomal dominant genetic disorder that causes increased low density lipoprotein cholesterol (LDL-C) levels and a higher risk of premature atherosclerosis and cardiovascular disease (CVD). Common causes of FH include inherited genetic mutations in the LDLR, APOB, and PCSK9 genes. LDLR, APOB, and PCSK9 mutations account for 79%, 5%, and <1% of cases of FH respectively. Apolipoprotein B (ApoB) is the necessary atherogenic lipoprotein which can serve as a determinant of cardiovascular disease including hypercholesterolemia. A founder variant in Apolipoprotein B (APOB p.R3527Q) causes FH and is found in 12% of the Pennsylvania Amish population. This article provides an overview of ApoB metabolism and clinical manifestations associated with APOB mutations. An understanding of the clinical manifestations caused by APOB p.R3527Q can be beneficial for the clinical diagnosis and treatment of FH in the Amish. Based on previous studies, changes in LDL cholesterol (LDL-C), LDL particles (LDL-P), small dense LDL particles, and ApoB levels can be seen among these patients putting them at an increased risk for atherosclerotic issues, vascular hardening, and changes in endothelial function, particularly among homozygous individuals.
{"title":"Familial Hyperlipidemia Caused by Apolipoprotein B Mutation in the Pediatric Amish Population: A Mini Review.","authors":"Corey Snyder, Amber L Beitelshees, Devyani Chowdhury","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Familial Hypercholesterolemia (FH) is an autosomal dominant genetic disorder that causes increased low density lipoprotein cholesterol (LDL-C) levels and a higher risk of premature atherosclerosis and cardiovascular disease (CVD). Common causes of FH include inherited genetic mutations in the <i>LDLR, APOB</i>, and <i>PCSK9</i> genes. <i>LDLR, APOB</i>, and <i>PCSK9</i> mutations account for 79%, 5%, and <1% of cases of FH respectively. Apolipoprotein B (ApoB) is the necessary atherogenic lipoprotein which can serve as a determinant of cardiovascular disease including hypercholesterolemia. A founder variant in Apolipoprotein B (<i>APOB p.R3527Q</i>) causes FH and is found in 12% of the Pennsylvania Amish population. This article provides an overview of ApoB metabolism and clinical manifestations associated with <i>APOB</i> mutations. An understanding of the clinical manifestations caused by <i>APOB p.R3527Q</i> can be beneficial for the clinical diagnosis and treatment of FH in the Amish. Based on previous studies, changes in LDL cholesterol (LDL-C), LDL particles (LDL-P), small dense LDL particles, and ApoB levels can be seen among these patients putting them at an increased risk for atherosclerotic issues, vascular hardening, and changes in endothelial function, particularly among homozygous individuals.</p>","PeriodicalId":14469,"journal":{"name":"Interventional Cardiology","volume":"15 Suppl 17","pages":"433-437"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10434815/pdf/nihms-1917021.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10404072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Despite standard therapies, heart failure patients have high rates of morbidity highlighting the need to develop alternative therapeutic approaches. Heart failure has been described as an energy-starved condition that is hypothesized to drive the pathological remodeling of the heart. Numerous studies have described the metabolic defects that occur when the heart fails and adaptive changes that take place to maintain the energy needed for the heart to function properly. In this review we will summarize the metabolic requirements of a normal heart and what happens during failure. We will also summarize the various metabolic therapeutic strategies that have been developed over the years to treat heart failure and their results from clinical trials.
{"title":"The promise and problems of metabolic-based therapies for heart failure.","authors":"Dianne M Perez","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Despite standard therapies, heart failure patients have high rates of morbidity highlighting the need to develop alternative therapeutic approaches. Heart failure has been described as an energy-starved condition that is hypothesized to drive the pathological remodeling of the heart. Numerous studies have described the metabolic defects that occur when the heart fails and adaptive changes that take place to maintain the energy needed for the heart to function properly. In this review we will summarize the metabolic requirements of a normal heart and what happens during failure. We will also summarize the various metabolic therapeutic strategies that have been developed over the years to treat heart failure and their results from clinical trials.</p>","PeriodicalId":14469,"journal":{"name":"Interventional Cardiology","volume":"13 6","pages":"415-424"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8715677/pdf/nihms-1756885.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39774696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Chete M Eze-Nliam, Zugui Zhang, Sandra A Weiss, William S Weintraub
Health care is a vital good for which there is an infinite demand. However, societal resources are finite and need to be distributed efficiently to avoid waste. Thus, the relative value of an intervention - cost compared to its effectiveness- needs to be taken into consideration when deciding which interventions to adopt. Cost-effectiveness analysis provides the crucial information which guides these decisions. As the field of medicine and indeed cardiology move forward with innovations which are effective but often expensive, it becomes imperative to employ these cost-effectiveness analytic tools, not with the intention of denying vital health services but to ascertain what the society willing to pay for.
{"title":"Cost-effectiveness Assessment of Cardiac Interventions: Determining a Socially Acceptable Cost Threshold.","authors":"Chete M Eze-Nliam, Zugui Zhang, Sandra A Weiss, William S Weintraub","doi":"10.2217/ica.13.81","DOIUrl":"https://doi.org/10.2217/ica.13.81","url":null,"abstract":"<p><p>Health care is a vital good for which there is an infinite demand. However, societal resources are finite and need to be distributed efficiently to avoid waste. Thus, the relative value of an intervention - cost compared to its effectiveness- needs to be taken into consideration when deciding which interventions to adopt. Cost-effectiveness analysis provides the crucial information which guides these decisions. As the field of medicine and indeed cardiology move forward with innovations which are effective but often expensive, it becomes imperative to employ these cost-effectiveness analytic tools, not with the intention of denying vital health services but to ascertain what the society willing to pay for.</p>","PeriodicalId":14469,"journal":{"name":"Interventional Cardiology","volume":"6 1","pages":"45-55"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2217/ica.13.81","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34256883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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