Literature DB >> 23049235

The Role of the Geneticist and Genetic Counselor in an ACHD Clinic.

Ashley Parrott1, Stephanie M Ware.   

Abstract

There is a growing population of adults with congenital heart disease due to the advancements in surgical repair and medical management. At the same time, the understanding of the genetic basis of both syndromic and isolated congenital heart disease has grown tremendously and is being rapidly translated into changes in clinical care, resulting in an increasing need for incorporation of genetic expertise into the care of adult congenital heart disease patients. Here we review the importance of delivery of genetic information to the adult congenital heart disease population and highlight the shared and distinct roles of clinical geneticists and genetic counselors in provision of services. The adult congenital heart disease patient population has unique needs and clinical geneticists and genetic counselors can play an important role in the diagnostic evaluation and assessment of these patients to provide an accurate etiologic diagnosis and to counsel regarding genetic testing, recurrence risk, family screening, and prenatal diagnosis.

Entities:  

Year:  2012        PMID: 23049235      PMCID: PMC3462440          DOI: 10.1016/j.ppedcard.2012.05.004

Source DB:  PubMed          Journal:  Prog Pediatr Cardiol        ISSN: 1058-9813


  29 in total

1.  A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report.

Authors:  Robert Resta; Barbara Bowles Biesecker; Robin L Bennett; Sandra Blum; Susan Estabrooks Hahn; Michelle N Strecker; Janet L Williams
Journal:  J Genet Couns       Date:  2006-04       Impact factor: 2.537

2.  Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations.

Authors:  Lisa J Martin; Vijaya Ramachandran; Linda H Cripe; Robert B Hinton; Gregor Andelfinger; Meredith Tabangin; Kerry Shooner; Mehdi Keddache; D Woodrow Benson
Journal:  Hum Genet       Date:  2007-01-04       Impact factor: 4.132

3.  From generational studies to a multilevel genetic-environmental interaction.

Authors:  J J Nora
Journal:  J Am Coll Cardiol       Date:  1994-05       Impact factor: 24.094

Review 4.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors:  David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

5.  Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies.

Authors:  Luc M Beauchesne; Carole A Warnes; Heidi M Connolly; Naser M Ammash; Martha Grogan; Syed M Jalal; Virginia V Michels
Journal:  J Am Coll Cardiol       Date:  2005-02-15       Impact factor: 24.094

6.  Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.

Authors:  Kim L McBride; Ricardo Pignatelli; Mark Lewin; Trang Ho; Susan Fernbach; Andres Menesses; Wilbur Lam; Suzanne M Leal; Norman Kaplan; Paul Schliekelman; Jeffrey A Towbin; John W Belmont
Journal:  Am J Med Genet A       Date:  2005-04-15       Impact factor: 2.802

7.  Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).

Authors:  Kim L McBride; Gloria A Zender; Sara M Fitzgerald-Butt; Daniel Koehler; Andres Menesses-Diaz; Susan Fernbach; Kwanghyuk Lee; Jeffrey A Towbin; Suzanne Leal; John W Belmont
Journal:  Eur J Hum Genet       Date:  2009-01-14       Impact factor: 4.246

Review 8.  Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.

Authors:  Angela E Lin; Craig T Basson; Elizabeth Goldmuntz; Pilar L Magoulas; Deborah A McDermott; Donna M McDonald-McGinn; Elspeth McPherson; Colleen A Morris; Jacqueline Noonan; Catherine Nowak; Mary Ella Pierpont; Reed E Pyeritz; Alan F Rope; Elaine Zackai; Barbara R Pober
Journal:  Genet Med       Date:  2008-07       Impact factor: 8.822

Review 9.  Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.

Authors:  Mary Ella Pierpont; Craig T Basson; D Woodrow Benson; Bruce D Gelb; Therese M Giglia; Elizabeth Goldmuntz; Glenn McGee; Craig A Sable; Deepak Srivastava; Catherine L Webb
Journal:  Circulation       Date:  2007-05-22       Impact factor: 29.690

10.  High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.

Authors:  F Erdogan; L A Larsen; L Zhang; Z Tümer; N Tommerup; W Chen; J R Jacobsen; M Schubert; J Jurkatis; A Tzschach; H-H Ropers; R Ullmann
Journal:  J Med Genet       Date:  2008-08-19       Impact factor: 6.318

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  6 in total

1.  Exploring barriers to payer utilization of genetic counselors.

Authors:  Nan Doyle; Allison Cirino; Amber Trivedi; Maureen Flynn
Journal:  J Genet Couns       Date:  2014-08-20       Impact factor: 2.537

Review 2.  Heart Failure in Pediatric Patients With Congenital Heart Disease.

Authors:  Robert B Hinton; Stephanie M Ware
Journal:  Circ Res       Date:  2017-03-17       Impact factor: 17.367

Review 3.  Genetics of congenital heart disease: the contribution of the noncoding regulatory genome.

Authors:  Alex V Postma; Connie R Bezzina; Vincent M Christoffels
Journal:  J Hum Genet       Date:  2015-07-30       Impact factor: 3.172

4.  Three year experience of a clinical cardiovascular genetics program for infants with congenital heart disease.

Authors:  Gabrielle C Geddes; Erin Syverson; Michael G Earing
Journal:  Congenit Heart Dis       Date:  2019-06-21       Impact factor: 2.007

Review 5.  Of mice and men: molecular genetics of congenital heart disease.

Authors:  Troels Askhøj Andersen; Karin de Linde Lind Troelsen; Lars Allan Larsen
Journal:  Cell Mol Life Sci       Date:  2013-08-10       Impact factor: 9.261

6.  Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach.

Authors:  Robert B Hinton; Kim L McBride; Steven B Bleyl; Neil E Bowles; William L Border; Vidu Garg; Teresa A Smolarek; Seema R Lalani; Stephanie M Ware
Journal:  J Cardiovasc Dev Dis       Date:  2015-04-29
  6 in total

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