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Literature DB >> 20560007

Genetic counseling and testing for hypertrophic cardiomyopathy: an adult perspective.

Cécile Skrzynia¹, Erin M Demo, Samantha M Baxter.

Abstract

Hypertrophic cardiomyopathy (HCM) is considered to be a genetic disease. As such, multidisciplinary approach is needed to evaluate and treat this condition. We present several patient vignettes to illustrate the complementary skills of cardiologists and genetic counselors in providing comprehensive care. Translational application of research will continue to expand as more genetic causes of HCM will be recognized and more genetic tests will become available. Now is the opportunity to build a strong collaboration between the two disciplines to be prepared for the era of personalized medicine.

Entities: Disease Species

Mesh：

Year: 2009 PMID： 20560007 DOI： 10.1007/s12265-009-9127-4

Source DB: PubMed Journal: J Cardiovasc Transl Res ISSN： 1937-5387 Impact factor: 4.132

14 in total

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Journal: Lancet Neurol Date: 2006-09 Impact factor: 44.182

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Authors: Barry J Maron; J G Seidman; Christine E Seidman
Journal: J Am Coll Cardiol Date: 2004-12-07 Impact factor: 24.094

6. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

Authors: Sara L Van Driest; Vlad C Vasile; Steve R Ommen; Melissa L Will; A Jamil Tajik; Bernard J Gersh; Michael J Ackerman
Journal: J Am Coll Cardiol Date: 2004-11-02 Impact factor: 24.094

7. Familial disease with a risk of sudden death: a longitudinal study of the psychological consequences of predictive testing for long QT syndrome.

Authors: Karin S W H Hendriks; Margriet M W B Hendriks; Erwin Birnie; Frans J M Grosfeld; Arthur A M Wilde; Jan van den Bout; Ellen M A Smets; J Peter van Tintelen; Herman F J ten Kroode; Irene M van Langen
Journal: Heart Rhythm Date: 2008-01-30 Impact factor: 6.343

8. Shared genetic causes of cardiac hypertrophy in children and adults.

Authors: Hiroyuki Morita; Heidi L Rehm; Andres Menesses; Barbara McDonough; Amy E Roberts; Raju Kucherlapati; Jeffrey A Towbin; J G Seidman; Christine E Seidman
Journal: N Engl J Med Date: 2008-04-09 Impact factor: 91.245

9. Hypertrophic cardiomyopathy in a large community-based population: clinical outcome and identification of risk factors for sudden cardiac death and clinical deterioration.

Authors: Marcel J M Kofflard; Folkert J Ten Cate; Chris van der Lee; Ron T van Domburg
Journal: J Am Coll Cardiol Date: 2003-03-19 Impact factor: 24.094

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Authors: Ray E Hershberger; Joann Lindenfeld; Luisa Mestroni; Christine E Seidman; Matthew R G Taylor; Jeffrey A Towbin
Journal: J Card Fail Date: 2009-03 Impact factor: 5.712

6 in total

1. Factors Associated with Uptake of Genetics Services for Hypertrophic Cardiomyopathy.

Authors: Amirah Khouzam; Andrea Kwan; Samantha Baxter; Jonathan A Bernstein
Journal: J Genet Couns Date: 2015-01-08 Impact factor: 2.537

2. Provision of cardiovascular genetic counseling services: current practice and future directions.

Authors: Allyson E Somers; Stephanie M Ware; Kathleen Collins; John L Jefferies; Hua He; Erin M Miller
Journal: J Genet Couns Date: 2014-05-01 Impact factor: 2.537

3. 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Authors: Martin K Stiles; Arthur A M Wilde; Dominic J Abrams; Michael J Ackerman; Christine M Albert; Elijah R Behr; Sumeet S Chugh; Martina C Cornel; Karen Gardner; Jodie Ingles; Cynthia A James; Jyh-Ming Jimmy Juang; Stefan Kääb; Elizabeth S Kaufman; Andrew D Krahn; Steven A Lubitz; Heather MacLeod; Carlos A Morillo; Koonlawee Nademanee; Vincent Probst; Elizabeth V Saarel; Luciana Sacilotto; Christopher Semsarian; Mary N Sheppard; Wataru Shimizu; Jonathan R Skinner; Jacob Tfelt-Hansen; Dao Wu Wang
Journal: Heart Rhythm Date: 2020-10-19 Impact factor: 6.343

4. 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Review 5. Molecular genetics made simple.

Authors: Heba Sh Kassem; Francesca Girolami; Despina Sanoudou
Journal: Glob Cardiol Sci Pract Date: 2012-07-04

Review 6. Shock to the Heart: Psychosocial Implications and Applications of Sudden Cardiac Death in the Young.

Authors: Nicholas Grubic; Jake Puskas; Dermot Phelan; Anne Fournier; Luc J Martin; Amer M Johri
Journal: Curr Cardiol Rep Date: 2020-10-10 Impact factor: 3.955

6 in total