Genetic testing for inherited cardiovascular diseases: a scientific statement from the American Heart Association

K Musunuru, RE Hershberger, SM Day… - Circulation: Genomic …, 2020 - Am Heart Assoc
Advances in human genetics are improving the understanding of a variety of inherited
cardiovascular diseases, including cardiomyopathies, arrhythmic disorders, vascular …

Diagnosis and treatment of heterozygous familial hypercholesterolemia

MP McGowan, SH Hosseini Dehkordi… - Journal of the …, 2019 - Am Heart Assoc
Familial hypercholesterolemia (FH) is a common yet underdiagnosed autosomal dominant
disorder that affects% 1 in 220 individuals globally. 1 FH is characterized by lifelong …

Association of monogenic vs polygenic hypercholesterolemia with risk of atherosclerotic cardiovascular disease

M Trinder, GA Francis, LR Brunham - JAMA cardiology, 2020 - jamanetwork.com
Importance Monogenic familial hypercholesterolemia (FH) is associated with lifelong
elevations in low-density lipoprotein cholesterol (LDL-C) levels and increased risk of …

Reducing the clinical and public health burden of familial hypercholesterolemia: a global call to action

KA Wilemon, J Patel, C Aguilar-Salinas… - JAMA …, 2020 - jamanetwork.com
Importance Familial hypercholesterolemia (FH) is an underdiagnosed and undertreated
genetic disorder that leads to premature morbidity and mortality due to atherosclerotic …

Homozygous familial hypercholesterolemia

A Nohara, H Tada, M Ogura, S Okazaki… - … of atherosclerosis and …, 2021 - jstage.jst.go.jp
Familial hypercholesterolemia (FH) is an inherited disorder with retarded clearance of
plasma LDL caused by mutations of the genes involved in the LDL receptor-mediated …

Genetic testing for heritable cardiovascular diseases in pediatric patients: a scientific statement from the American Heart Association

AP Landstrom, JJ Kim, BD Gelb, BM Helm… - Circulation: Genomic …, 2021 - Am Heart Assoc
Genetic diseases that affect the cardiovascular system are relatively common and include
cardiac channelopathies, cardiomyopathies, aortopathies, hypercholesterolemias, and …

Population-based penetrance of deleterious clinical variants

IS Forrest, K Chaudhary, HMT Vy, BO Petrazzini… - Jama, 2022 - jamanetwork.com
Importance Population-based assessment of disease risk associated with gene variants
informs clinical decisions and risk stratification approaches. Objective To evaluate the …

Atherosclerotic cardiovascular risk as an emerging priority in pediatrics

HS Schipper, S de Ferranti - Pediatrics, 2022 - publications.aap.org
Over the last decades, childhood and adolescence have emerged as an important window
of opportunity to prevent atherosclerotic cardiovascular disease (ASCVD) later in life. Here …

Association of the interaction between familial hypercholesterolemia variants and adherence to a healthy lifestyle with risk of coronary artery disease

AC Fahed, M Wang, AP Patel, E Ajufo… - JAMA network …, 2022 - jamanetwork.com
Importance Familial hypercholesterolemia variants impair clearance of cholesterol from the
circulation and increase risk of coronary artery disease (CAD). The extent to which …

Establishment of specialized clinical cardiovascular genetics programs: recognizing the need and meeting standards: a scientific statement from the American Heart …

F Ahmad, EM McNally, MJ Ackerman… - Circulation: Genomic …, 2019 - Am Heart Assoc
Cardiovascular genetics is a rapidly evolving subspecialty within cardiovascular medicine,
and its growth is attributed to advances in genome sequencing and genetic testing and the …