Sudden Death in Athletes: Role of Genetics - August 4, 2015

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Sudden Cardiac Death

Sudden Death in Athletes: Role of Genetics - August 4, 2015

CDC and Related Info

• Heart disease facts
• Can sudden cardiac death of the young be prevented?CDC blog post (2012)
• Genes reported in relation to sudden cardiac death, including genomewide association studies via theHuGE Navigator

Genetic screening in sudden cardiac death in the young can save future lives.
Stattin Eva-Lena et al.Int. J. Legal Med. 2015 Jul 31.

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
Li MH et al. Hum. Genomics 9(1) 15

Sudden cardiac death in athletes.
Semsarian C et al. Br J Sports Med 2015 Aug (15) 1017-23

Screening of sarcomere gene mutations in young athletes with abnormal findings in electrocardiography: identification of a MYH7 mutation and MYBPC3 mutations.
Kadota C et al. J. Hum. Genet. 2015 Jul 16.

Differential thermosensitivity in mixed syndrome cardiac sodium channel mutants
Abdelsayed M et al. J Physiology, July 2015

Genetic mutation in heart proteins may be why some experience sudden cardiac death during exercise and sleep, by Dana Dovey, Medical Express, Jul 16

Sports and exercise in athletes with hypertrophic cardiomyopathy.
Alpert C et al. Clin Sports Med 2015 Jul (3) 489-505

Diseases of the aorta in elite athletes.
Iskandar A et al. Clin Sports Med 2015 Jul (3) 461-72

Ethics of preparticipation cardiovascular screening for athletes.
Maron BJ et al. Nat Rev Cardiol 2015 Jun (6) 375-378

Sudden Cardiac Death: Public Health and Genomic Insights - May 12, 2015

CDC information: Heart disease facts

Heart disease and sudden cardiac death, WebMD, 2015

Risk factors for sudden cardiac death include family history and genetics, Mayo Clinic

Predicting sudden cardiac death using common genetic risk variants for coronary artery disease.
Hernesniemi JA et al. Eur. Heart J. 2015 Apr 23.

Cardiovascular disease and sudden cardiac death: between genetics and genomics.
Stallmeyer B et al. Eur. Heart J. 2015 May 8.

CAD genetic risk helps predict SCD
João H. Duarte, Nature Reviews Cardiology, May 2015

Check out genetic conditions and tests associated with sudden cardiac death, NIH Genetic Testing Registry

Check out genes reported in relation to risk of sudden cardiac death, HuGE Navigator

Brugada Syndrome - April 24, 2015

What is Brugada syndrome? NIH Genetics Home Reference

Brugada syndrome
R Brugada et al. Gene Reviews, April 2014

Find out which genetic conditions and tests are associated with Brugada Syndrome, from the NIH Genetic Testing Registry

Brugada syndrome: clinical and genetic findings.
Sarquella-Brugada G et al. Genet. Med. 2015 Apr 23.

Enhanced classification of Brugada syndrome- and Long QT syndrome-associated genetic variants in the SCN5A-encoded Nav1.5 cardiac sodium channel.
Kapplinger JD et al. Circ Cardiovasc Genet 2015 Apr 22.

Prognostic value of programmed electrical stimulation in Brugada syndrome: 20 years experience.
Sieira J et al. Circ Arrhythm Electrophysiol 2015 Apr 22.

Sudden cardiac death.
Kuriachan VP et al. Curr Probl Cardiol 2015 Apr (4) 133-200

Absence of family health history and phenotype-genotype correlation in pediatric Brugada syndrome: More burden to bear in clinical and genetic diagnosis.
Daimi H et al. Pediatr Cardiol 2015 Mar 11.

Implantable cardioverter-defibrillator therapy in brugada syndrome: a 20-year single-center experience.
Conte G et al. J. Am. Coll. Cardiol. 2015 Mar 10. (9) 879-88

Cardiac arrhythmias: Diagnosis, symptoms, and treatments.
Fu DG et al. Cell Biochem. Biophys. 2015 Mar 4.

Next generation sequencing for molecular confirmation of hereditary sudden cardiac death syndromes.
Márquez MF et al. Arch Cardiol Mex 2015 Jan-Mar (1) 68-72

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.
Le Scouarnec S et al. Hum. Mol. Genet. 2015 May 15. (10) 2757-63

Identification of genetic alterations, as causative genetic defects in Long QT syndrome, Using next generation sequencing technology.
Campuzano O et al. PLoS ONE 2014 (12) e114894

Hypertrophic Cardiomyopathy: Opportunities for Using Genetics to Prevent Death - May 8, 2014

Family screening in hypertrophic cardiomyopathy is underperformed, but can be improved by a specialised clinic
Olaussen A, et al. Intern Med J 2014 Apr

ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing
Trevor J. Pugh et al. Genetics in Medicine, Feb 7

Genetic screening can protect relatives after sudden death, by Dr Philippa Brice, PHG Foundation, Jan 21

Genetics of hypertrophic cardiomyopathy After 20 years: Clinical perspectives 
Barry J. Maron et al. JACC (2012)

Gene Reviews: Hypertrophic Cardiomyopathy Overview, Gene Reviews, by Allison L Cirino and Carolyn Ho (2014)

Sudden Death in the Young: Using Genetics for Prevention - January 30, 2014

Genetic screening can protect relatives after sudden death, by  Dr Philippa Brice, PHG Foundation, Jan 21

ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy - A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines

Too young to die: Impact of sudden cardiac death of the young in Michigan, 1999 - 2008  [PDF 1.42 MB]

Can sudden cardiac death of the young be prevented? CDC blog post (2012)