Literature DB >> 23794152

Using genetic testing to guide therapeutic decisions in cardiomyopathy.

Neal K Lakdawala1.   

Abstract

OPINION STATEMENT: Genetic analysis of human cardiomyopathy has rapidly transitioned from a strictly research endeavor to a diagnostic tool readily available to clinicians across the globe. In contemporary practice, genetic testing improves the efficiency of family evaluations and clarifies the etiology of ambiguous clinical presentations. The great promise of genetic diagnosis is to enable preventative therapies for individuals at high risk of future disease development, a strategy that is under active clinical investigation. However, in the present and future, careful interpretation of DNA sequence variation is critical, and can be ensured by referral to a specialized cardiovascular genetics clinic.

Entities:  

Year:  2013        PMID: 23794152      PMCID: PMC3756693          DOI: 10.1007/s11936-013-0252-7

Source DB:  PubMed          Journal:  Curr Treat Options Cardiovasc Med        ISSN: 1092-8464


  40 in total

1.  2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines.

Authors:  Bernard J Gersh; Barry J Maron; Robert O Bonow; Joseph A Dearani; Michael A Fifer; Mark S Link; Srihari S Naidu; Rick A Nishimura; Steve R Ommen; Harry Rakowski; Christine E Seidman; Jeffrey A Towbin; James E Udelson; Clyde W Yancy
Journal:  Circulation       Date:  2011-11-08       Impact factor: 29.690

2.  Clinical problem-solving. In the thick of it.

Authors:  Deepak A Rao; Neal K Lakdawala; Amy Leigh Miller; Joseph Loscalzo
Journal:  N Engl J Med       Date:  2013-05-02       Impact factor: 91.245

3.  T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy.

Authors:  Carolyn Y Ho; Siddique A Abbasi; Tomas G Neilan; Ravi V Shah; Yucheng Chen; Bobak Heydari; Allison L Cirino; Neal K Lakdawala; E John Orav; Arantxa González; Begoña López; Javier Díez; Michael Jerosch-Herold; Raymond Y Kwong
Journal:  Circ Cardiovasc Imaging       Date:  2013-04-02       Impact factor: 7.792

4.  Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.

Authors:  H Watkins; A Rosenzweig; D S Hwang; T Levi; W McKenna; C E Seidman; J G Seidman
Journal:  N Engl J Med       Date:  1992-04-23       Impact factor: 91.245

Review 5.  Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy.

Authors:  Carolyn Y Ho
Journal:  Circulation       Date:  2010-12-07       Impact factor: 29.690

6.  The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model.

Authors:  Christopher Semsarian; Imran Ahmad; Michael Giewat; Dimitrios Georgakopoulos; Joachim P Schmitt; Bradley K McConnell; Steven Reiken; Ulrike Mende; Andrew R Marks; David A Kass; Christine E Seidman; J G Seidman
Journal:  J Clin Invest       Date:  2002-04       Impact factor: 14.808

7.  Metoprolol reverses left ventricular remodeling in patients with asymptomatic systolic dysfunction: the REversal of VEntricular Remodeling with Toprol-XL (REVERT) trial.

Authors:  Wilson S Colucci; Theodore J Kolias; Kirkwood F Adams; William F Armstrong; Jalal K Ghali; Stephen S Gottlieb; Barry Greenberg; Michael I Klibaner; Marrick L Kukin; Jennifer E Sugg
Journal:  Circulation       Date:  2007-06-18       Impact factor: 29.690

8.  Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

Authors:  Iacopo Olivotto; Francesca Girolami; Michael J Ackerman; Stefano Nistri; J Martijn Bos; Elisabetta Zachara; Steve R Ommen; Jeanne L Theis; Rachael A Vaubel; Federica Re; Corinna Armentano; Corrado Poggesi; Francesca Torricelli; Franco Cecchi
Journal:  Mayo Clin Proc       Date:  2008-06       Impact factor: 7.616

9.  Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy.

Authors:  Neal K Lakdawala; Jens J Thune; Steven D Colan; Allison L Cirino; Faranak Farrohi; Jose Rivero; Barbara McDonough; Elizabeth Sparks; E J Orav; J G Seidman; Christine E Seidman; Carolyn Y Ho
Journal:  Circ Cardiovasc Genet       Date:  2012-09-04

10.  Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy.

Authors:  Jenifer G Crilley; Ernest A Boehm; Edward Blair; Bheeshma Rajagopalan; Andrew M Blamire; Peter Styles; William J McKenna; Ingegerd Ostman-Smith; Kieran Clarke; Hugh Watkins
Journal:  J Am Coll Cardiol       Date:  2003-05-21       Impact factor: 24.094

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  1 in total

1.  Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification.

Authors:  Daniel Quiat; Leora Witkowski; Hana Zouk; Kevin P Daly; Amy E Roberts
Journal:  J Am Heart Assoc       Date:  2020-05-27       Impact factor: 6.106

  1 in total

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