Literature DB >> 18256568

Family history: an essential tool for cardiovascular genetic medicine.

Ana Morales1, Jason Cowan, Jimena Dagua, Ray E Hershberger.   

Abstract

We are pleased to provide a new section devoted to topics in cardiovascular genetic medicine. An emerging field, cardiovascular genetic medicine is devoted to the identification and understanding of cardiac conditions resulting from genetic mechanisms and to the development and validation of treatment algorithms and guidelines. Cardiovascular genetic medicine is rapidly enlarging, and we anticipate a broad range of comprehensive reviews. We will first focus on the most tractable diagnoses to apply the principles of cardiovascular genetic medicine: the cardiomyopathies such as dilated, hypertrophic, arrhythmogenic right ventricular dysplasia/cardiomyopathy and the channelopathies such as long QT syndrome and related disorders. These conditions follow classical or Mendelian genetics, otherwise known as the single gene disorders. As greater numbers of disease genes and their specific mutations are identified, and as large clinical cohorts of affected probands and their at-risk family members become available for study, clinical recommendations, and then guidelines, will follow. Progress is also evident for those conditions considered to be complex or multigenic diseases, such as coronary disease and hypertension, which affect large segments of the population. Risk alleles are now being identified that may rapidly lead to genetic testing to assess risk for these conditions. Cardiovascular genetic medicine must also be responsive to public concerns regarding confidentiality, and it must also demonstrate clinical integrity and utility for genetic testing. Our first topic features the role of family history in cardiovascular genetic medicine. Assisted by my clinical and research group -- genetic counselors and nursing personnel devoted to the field -- we have provided a glossary with explanations of genetic terminology, as illustrated in this first article, and will continue to do so for the series. We will prepare additional topics and others will be solicited from experts in the field. I also invite any potential contributors to propose and submit topics that are both of interest to you and relevant to the field. Please also give us your feedback, especially to improve the clarity, diversity, and timeliness of the genetic concepts presented. So, away we go.

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Mesh:

Year:  2008        PMID: 18256568     DOI: 10.1111/j.1751-7133.2008.08201.x

Source DB:  PubMed          Journal:  Congest Heart Fail        ISSN: 1527-5299


  20 in total

1.  Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy.

Authors:  Ana Morales; Thomas Painter; Ran Li; Jill D Siegfried; Duanxiang Li; Nadine Norton; Ray E Hershberger
Journal:  Circulation       Date:  2010-05-10       Impact factor: 29.690

Review 2.  Cardiovascular genetic medicine: evolving concepts, rationale, and implementation.

Authors:  Ray E Hershberger
Journal:  J Cardiovasc Transl Res       Date:  2008-05-20       Impact factor: 4.132

3.  Implications of genetic testing in noncompaction/hypertrabeculation.

Authors:  Joseph T C Shieh
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-07-10       Impact factor: 3.908

Review 4.  At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease.

Authors:  Ana Morales; Dawn C Allain; Patricia Arscott; Emily James; Gretchen MacCarrick; Brittney Murray; Crystal Tichnell; Amy R Shikany; Sara Spencer; Sara M Fitzgerald-Butt; Jessica D Kushner; Christi Munn; Emily Smith; Katherine G Spoonamore; Harikrishna S Tandri; W Aaron Kay
Journal:  J Genet Couns       Date:  2017-03-10       Impact factor: 2.537

Review 5.  Clinical Application of Genetic Testing in Heart Failure.

Authors:  Ana Morales; Ray Hershberger
Journal:  Curr Heart Fail Rep       Date:  2017-12

Review 6.  A clinical approach to inherited hypertrophy: the use of family history in diagnosis, risk assessment, and management.

Authors:  Kyla E Dunn; Colleen Caleshu; Allison L Cirino; Carolyn Y Ho; Euan A Ashley
Journal:  Circ Cardiovasc Genet       Date:  2013-02

7.  The genetics of cardiomyopathy: genotyping and genetic counseling.

Authors:  Steven J Fowler; Carlo Napolitano; Silvia G Priori
Journal:  Curr Treat Options Cardiovasc Med       Date:  2009-12

8.  Return of genetic results in the familial dilated cardiomyopathy research project.

Authors:  Jill D Siegfried; Ana Morales; Jessica D Kushner; Emily Burkett; Jason Cowan; Ana Clara Mauro; Gordon S Huggins; Duanxiang Li; Nadine Norton; Ray E Hershberger
Journal:  J Genet Couns       Date:  2012-08-11       Impact factor: 2.537

Review 9.  Genetic evaluation of dilated cardiomyopathy.

Authors:  Ana Morales; Ray E Hershberger
Journal:  Curr Cardiol Rep       Date:  2013-07       Impact factor: 2.931

10.  Diagnosis, prevalence, and screening of familial dilated cardiomyopathy.

Authors:  Mary Sweet; Matthew R G Taylor; Luisa Mestroni
Journal:  Expert Opin Orphan Drugs       Date:  2015-06-22       Impact factor: 0.694

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