Testing toddlers for inherited heart disease - Genomics Education Programme

Testing toddlers for inherited heart disease - Genomics Education Programme

Monday, 31 October 2016 11:10

Testing toddlers for inherited heart disease

Blood test at birth could reveal genetic high cholesterol levels, potentially preventing heart problems developing in the future

UK researchers have called for familial hypercholesterolemia (FH) screening in toddlers when they have their routine immunisations. FH is a very common inherited genetic disorder affecting as many as 1 in 250 of the UK population.

Public Health Genomics Knowledge Base (v1.2)

Last Posted: Nov-04-2016 2PM

 Familial Hypercholesterolemia expanded expanded

Testing toddlers for inherited heart disease 
Genomics Education UK, October 31, 2016

Test cholesterol of one-year-olds to prevent early heart attacks, study suggests 
The Guardian, October 26, 2016

What Should Be the Screening Strategy for Familial Hypercholesterolemia
BW McCrindle et al, NEJM, October 26, 2016

More information on this topic

Last Updated: Nov 04, 2016

• Testing toddlers for inherited heart disease 
  Genomics Education UK, October 31, 2016
• Challenges in the health economics of familial hypercholesterolemia.
  Norman Richard et al. Current opinion in lipidology 2016 Oct
• Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
  Sánchez-Hernández Rosa M et al. Circulation. Cardiovascular genetics 2016 Oct
• Referral Patterns and Cascade Screening for Familial Hypercholesterolemia in a Pediatric Lipid Clinic.
  Stempel Hilary et al. The Journal of pediatrics 2016 Nov 178285-287
• Test cholesterol of one-year-olds to prevent early heart attacks, study suggests 
  The Guardian, October 26, 2016
• Child–Parent Familial Hypercholesterolemia Screening in Primary Care
  DS Wald et al, NEJM, October 26, 2016
• What Should Be the Screening Strategy for Familial Hypercholesterolemia
  BW McCrindle et al, NEJM, October 26, 2016
• Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
  Wald David S et al. The New England journal of medicine 2016 Oct 375(17) 1628-1637
• The panorama of familial hypercholesterolemia in Latin America: a systematic review.
  Mehta Roopa et al. Journal of lipid research 2016 Oct
• Universal Cholesterol Screening in Childhood: A Systematic Review.
  Smith Anna Jo et al. Academic pediatrics 16(8) 716-725
• What Should Be the Screening Strategy for Familial Hypercholesterolemia?
  McCrindle Brian W et al. The New England journal of medicine 2016 Oct 375(17) 1685-1686
• Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
  Brænne Ingrid et al. European journal of human genetics : EJHG 2016 Feb 24(2) 191-7
• Familial hypercholesterolemia among unselected contemporary patients presenting with first myocardial infarction: Prevalence, risk factor burden, and impact on age at presentation.
  Mortensen Martin Bødtker et al. Journal of clinical lipidology 10(5) 1145-1152.e1
• Familial hypercholesterolemia in a large ambulatory population: Statin use, optimal treatment, and identification for advanced medical therapies.
  Knickelbine Thomas et al. Journal of clinical lipidology 10(5) 1182-7
• US physician practices for diagnosing familial hypercholesterolemia: data from the CASCADE-FH registry.
  Ahmad Zahid S et al. Journal of clinical lipidology 10(5) 1223-9

• CDC Information (4)
• CDC-Authored Pub (1)

• Human (66)
• Pathogen (0)

• Human (253)
• Pathogen (0)

• Human (63)
• Pathogen (0)

• Guidelines (7)
• Tier Table (1)
• Synthesis (19)

• Huamn (44)
• Pathogen (0)

Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB