3 documents found, page 1 of 1
Overweight, Obesity, And Cardiovascular Disease In Heterozygous Familial Hyperc...
Elshorbagy, Amany; Vallejo-Vaz, Antonio J.; Barkas, Fotios; Lyons, Alexander R.M.; Stevens, Christophe A.T.; Dharmayat, Kanika I.; Catapano, Alberico L.Background and aims: Overweight and obesity are modifiable risk factors for atherosclerotic cardiovascular disease (ASCVD) in the general population, but their prevalence in individuals with heterozygous familial hypercholesterolaemia (HeFH) and whether they confer additional risk of ASCVD independent of LDL cholesterol (LDL-C) remains unclear. Methods: Cross-sectional analysis was conducted in 35 540 patients ...
Worldwide experience of homozygous familial hypercholesterolaemia: retrospectiv...
Tromp, Tycho R.; Hartgers, Merel L.; Hovingh, G Kees; Vallejo-Vaz, Antonio J.; Ray, Kausik K.; Soran, Handrean; Freiberger, Tomas; Bertolini, StefanoBackground: Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder resulting in extremely elevated low-density lipoprotein cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Current guidance about its management and prognosis stems from small studies, mostly from high-income countries. The objective of this study was to assess the clinical and genetic charact...
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Cu...
Chora, Joana R.; Iacocca, Michael A.; Tichý, Lukáš; Wand, Hannah; Kurtz, C. Lisa; Zimmermann, Heather; Leon, Annette; Williams, MaggiePurpose: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published consensus standardized guidelines for sequence-level variant classification in Mendelian disorders. To increase accuracy and consistency, the Clinical Genome Resource Familial Hypercholesterolemia (FH) Variant Curation Expert Panel was tasked with optimizing the existing ACM...