Literature DB >> 20560008

Genetic counseling and testing for hypertrophic cardiomyopathy: the pediatric perspective.

Erin M Demo1, Cécile Skrzynia, Samantha Baxter.   

Abstract

Hypertrophic cardiomyopathy (HCM) is a common cardiac disease that is now being identified in the pediatric population. The etiology of this disease is largely genetic, and as a result, genetics professionals are becoming more involved in the management of these patients. We present multiple case scenarios that highlight the complex nature of this disease and how genetic counselors and cardiologists can interact to identify the genetic etiology of HCM and provide comprehensive care for these patients. Additionally, we describe knowledge gaps in this field and how research endeavors can assist in more effectively managing this patient cohort.

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Year:  2009        PMID: 20560008     DOI: 10.1007/s12265-009-9126-5

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


  12 in total

1.  Cardiology patient pages. Hypertrophic cardiomyopathy.

Authors:  Barry J Maron
Journal:  Circulation       Date:  2002-11-05       Impact factor: 29.690

2.  Clinical features and outcomes of childhood hypertrophic cardiomyopathy: results from a national population-based study.

Authors:  Alan W Nugent; Piers E F Daubeney; Patty Chondros; John B Carlin; Steven D Colan; Michael Cheung; Andrew M Davis; C W Chow; Robert G Weintraub
Journal:  Circulation       Date:  2005-08-22       Impact factor: 29.690

3.  A quiet revolution: the birth of the genetic counselor at Sarah Lawrence College, 1969.

Authors:  Alexandra Minna Stern
Journal:  J Genet Couns       Date:  2008-11-05       Impact factor: 2.537

4.  Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives.

Authors:  Hanno L Tan; Nynke Hofman; Irene M van Langen; Allard C van der Wal; Arthur A M Wilde
Journal:  Circulation       Date:  2005-07-05       Impact factor: 29.690

Review 5.  Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy.

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

Review 7.  Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics.

Authors:  Ronny Alcalai; Jonathan G Seidman; Christine E Seidman
Journal:  J Cardiovasc Electrophysiol       Date:  2007-10-04

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

Review 9.  Clinicopathological features of genetically confirmed Danon disease.

Authors:  K Sugie; A Yamamoto; K Murayama; S J Oh; M Takahashi; M Mora; J E Riggs; J Colomer; C Iturriaga; A Meloni; C Lamperti; S Saitoh; E Byrne; S DiMauro; I Nonaka; M Hirano; I Nishino
Journal:  Neurology       Date:  2002-06-25       Impact factor: 9.910

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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  3 in total

1.  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

Review 2.  Molecular genetics made simple.

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

Review 3.  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

  3 in total

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