Literature DB >> 23135967

Genetic testing in the contemporary diagnosis of cardiomyopathy.

Amy Curry Sturm1.   

Abstract

The heritable cardiomyopathies are relatively common conditions that can lead to heart failure and sudden cardiac death. Family history collection, genetic testing and genetic counseling are recommended for these patients and families in multiple practice guidelines and consensus statements. Research discoveries and rapidly dropping costs of DNA sequencing technologies have resulted in the availability of multiple cardiomyopathy genetic testing panels. Genetic testing not only helps in determining the underlying etiology of idiopathic and familial cardiomyopathies, but is also a powerful tool in the determination of which relatives are at-risk and which are not. Both pre- and post-test genetic counseling is an imperative component of genetic testing, as there are many benefits and limitations of genetic testing that need discussed with each patient undergoing this process.

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Year:  2013        PMID: 23135967     DOI: 10.1007/s11897-012-0124-6

Source DB:  PubMed          Journal:  Curr Heart Fail Rep        ISSN: 1546-9530


  64 in total

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Journal:  J Am Coll Cardiol       Date:  2007-06-11       Impact factor: 24.094

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Journal:  N Engl J Med       Date:  1992-01-09       Impact factor: 91.245

3.  Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy.

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Journal:  Br Heart J       Date:  1990-02

Review 4.  Hypertrophic cardiomyopathy in 2012.

Authors:  Carolyn Y Ho
Journal:  Circulation       Date:  2012-03-20       Impact factor: 29.690

5.  Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention.

Authors:  Barry J Maron; Jeffrey A Towbin; Gaetano Thiene; Charles Antzelevitch; Domenico Corrado; Donna Arnett; Arthur J Moss; Christine E Seidman; James B Young
Journal:  Circulation       Date:  2006-03-27       Impact factor: 29.690

6.  Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.

Authors:  Colleen Caleshu; Rahul Sakhuja; Robert L Nussbaum; Nelson B Schiller; Philip C Ursell; Celeste Eng; Teresa De Marco; Dana McGlothlin; Esteban González Burchard; J Eduardo Rame
Journal:  Am J Med Genet A       Date:  2011-08-05       Impact factor: 2.802

7.  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

8.  Mutations in sarcomere protein genes in left ventricular noncompaction.

Authors:  Sabine Klaassen; Susanne Probst; Erwin Oechslin; Brenda Gerull; Gregor Krings; Pia Schuler; Matthias Greutmann; David Hürlimann; Mustafa Yegitbasi; Lucia Pons; Michael Gramlich; Jörg-Detlef Drenckhahn; Arnd Heuser; Felix Berger; Rolf Jenni; Ludwig Thierfelder
Journal:  Circulation       Date:  2008-05-27       Impact factor: 29.690

Review 9.  Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Authors:  Ray E Hershberger; Jason Cowan; Ana Morales; Jill D Siegfried
Journal:  Circ Heart Fail       Date:  2009-05       Impact factor: 8.790

10.  Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline.

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

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  6 in total

1.  General Practitioners' knowledge and use of genetic counselling in managing patients with genetic cardiac disease in non-specialised settings.

Authors:  Jessica A Marathe; Jessica Woodroffe; Kathryn Ogden; Clarissa Hughes
Journal:  J Community Genet       Date:  2015-05-12

2.  Epidemiology of Cardiomyopathy in Taiwanese Population Aged Younger Than 65 Years.

Authors:  Po-Yuan Wang; En-Ting Wu; Frank Leigh Lu; Jyh-Ming Jimmy Juang; Feng-Yu Kao; San-Kuei Huang; Mei-Hwan Wu
Journal:  Acta Cardiol Sin       Date:  2022-09       Impact factor: 1.800

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

Review 4.  Linking Genes to Cardiovascular Diseases: Gene Action and Gene-Environment Interactions.

Authors:  Ares Pasipoularides
Journal:  J Cardiovasc Transl Res       Date:  2015-11-06       Impact factor: 4.132

5.  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:  J Arrhythm       Date:  2021-04-08

6.  Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.

Authors:  Cinzia Forleo; Anna Maria D'Erchia; Sandro Sorrentino; Caterina Manzari; Matteo Chiara; Massimo Iacoviello; Andrea Igoren Guaricci; Delia De Santis; Rita Leonarda Musci; Antonino La Spada; Vito Marangelli; Graziano Pesole; Stefano Favale
Journal:  PLoS One       Date:  2017-07-27       Impact factor: 3.240

  6 in total

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