Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel
Although awareness of familial hypercholesterolemia (FH) is increasing, this common,
potentially fatal, treatable condition remains underdiagnosed. Despite FH being a genetic …
potentially fatal, treatable condition remains underdiagnosed. Despite FH being a genetic …
Genetics of coronary artery disease: discovery, biology and clinical translation
AV Khera, S Kathiresan - Nature Reviews Genetics, 2017 - nature.com
Coronary artery disease is the leading global cause of mortality. Long recognized to be
heritable, recent advances have started to unravel the genetic architecture of the disease …
heritable, recent advances have started to unravel the genetic architecture of the disease …
Inclisiran for the treatment of heterozygous familial hypercholesterolemia
Background Familial hypercholesterolemia is characterized by an elevated level of low-
density lipoprotein (LDL) cholesterol and an increased risk of premature atherosclerotic …
density lipoprotein (LDL) cholesterol and an increased risk of premature atherosclerotic …
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in
young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1. 5 …
young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1. 5 …
Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia
Abstract Background: Approximately 7% of American adults have severe
hypercholesterolemia (untreated low-density lipoprotein [LDL] cholesterol≥ 190 mg/dl) …
hypercholesterolemia (untreated low-density lipoprotein [LDL] cholesterol≥ 190 mg/dl) …
A modern approach to dyslipidemia
Lipid disorders involving derangements in serum cholesterol, triglycerides, or both are
commonly encountered in clinical practice and often have implications for cardiovascular …
commonly encountered in clinical practice and often have implications for cardiovascular …
Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment
A Wiegman, SS Gidding, GF Watts… - European heart …, 2015 - academic.oup.com
Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary
heart disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and …
heart disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and …
The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association
2168 Circulation December 1, 2015 sufficient evidence for health benefit exists to implement
case finding via family history–based screening, cascade screening, or other strategies …
case finding via family history–based screening, cascade screening, or other strategies …
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the …
Abstract Aims Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening
condition characterized by markedly elevated circulating levels of low-density lipoprotein …
condition characterized by markedly elevated circulating levels of low-density lipoprotein …
The complex molecular genetics of familial hypercholesterolaemia
Familial hypercholesterolaemia is the most commonly encountered genetic condition that
predisposes individuals to premature cardiovascular disease. Nevertheless, most patients …
predisposes individuals to premature cardiovascular disease. Nevertheless, most patients …