Literature DB >> 29063279

Clinical Application of Genetic Testing in Heart Failure.

Ana Morales1, Ray Hershberger2.   

Abstract

PURPOSE OF REVIEW: The purpose of this review is to present our current understanding of the genetic etiologies that may cause or predispose to heart failure. We highlight known phenotypes for which a genetic evaluation has clinical utility. RECENT
FINDINGS: The literature continues to demonstrate and confirm a genetic basis for conditions that cause heart failure. Evidence suggests a genetic model involving rare and common variants of strong or weak effect, in combination with environmental factors that may manifest as familial or simplex disease. Clinical genetic testing is available for several phenotypes, which can aid in the diagnosis and identification of at-risk family members. The evaluation of heart failure should include investigating etiologies with a genetic basis. Conducting a genetic evaluation in patients with heart failure requires the ability to identify possible genetic etiologies in an individual's phenotype, obtain relevant family history, and clinically interpret genetic testing results.

Entities:  

Keywords:  Cardiomyopathy; Coronary artery disease; Genetic counseling; Genetic testing; Genetics; Heart failure

Mesh:

Year:  2017        PMID: 29063279      PMCID: PMC5806624          DOI: 10.1007/s11897-017-0366-4

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


  96 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

2.  Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy.

Authors:  Karin Y van Spaendonck-Zwarts; J Peter van Tintelen; Dirk J van Veldhuisen; Rik van der Werf; Jan D H Jongbloed; Walter J Paulus; Dennis Dooijes; Maarten P van den Berg
Journal:  Circulation       Date:  2010-05-10       Impact factor: 29.690

Review 3.  Application of Genetic Testing in Hypertrophic Cardiomyopathy for Preclinical Disease Detection.

Authors:  Jodie Ingles; Charlotte Burns; Alexandra Barratt; Christopher Semsarian
Journal:  Circ Cardiovasc Genet       Date:  2015-12

Review 4.  Multiple mutations in genetic cardiovascular disease: a marker of disease severity?

Authors:  Matthew Kelly; Christopher Semsarian
Journal:  Circ Cardiovasc Genet       Date:  2009-04

Review 5.  PCSK9: an emerging target for treatment of hypercholesterolemia.

Authors:  Christopher J Duff; Nigel M Hooper
Journal:  Expert Opin Ther Targets       Date:  2011-01-05       Impact factor: 6.902

6.  Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.

Authors:  Ray E Hershberger; Nadine Norton; Ana Morales; Duanxiang Li; Jill D Siegfried; Jorge Gonzalez-Quintana
Journal:  Circ Cardiovasc Genet       Date:  2010-03-09

Review 7.  Genes and pulmonary arterial hypertension.

Authors:  Benjamin Sztrymf; Azzedine Yaïci; Barbara Girerd; Marc Humbert
Journal:  Respiration       Date:  2007       Impact factor: 3.580

Review 8.  A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia.

Authors:  Dalya Marks; Margaret Thorogood; H Andrew W Neil; Steve E Humphries
Journal:  Atherosclerosis       Date:  2003-05       Impact factor: 5.162

9.  APOE p.Leu167del mutation in familial hypercholesterolemia.

Authors:  Zuhier Awan; Hong Y Choi; Nathan Stitziel; Isabelle Ruel; Mary Aderayo Bamimore; Regina Husa; Marie-Helene Gagnon; Rui-Hao L Wang; Gina M Peloso; Robert A Hegele; Nabil G Seidah; Sekar Kathiresan; Jacques Genest
Journal:  Atherosclerosis       Date:  2013-09-19       Impact factor: 5.162

10.  The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.

Authors:  Isabel De Castro-Orós; Miguel Pocoví; Fernando Civeira
Journal:  Appl Clin Genet       Date:  2010-08-05
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  1 in total

1.  Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy.

Authors:  Megan J Puckelwartz; Lorenzo L Pesce; Lisa M Dellefave-Castillo; Matthew T Wheeler; Tess D Pottinger; Avery C Robinson; Samuel D Kearns; Anthony M Gacita; Zachary J Schoppen; Wenyu Pan; Gene Kim; Jane E Wilcox; Allen S Anderson; Euan A Ashley; Sharlene M Day; Thomas Cappola; Gerald W Dorn; Elizabeth M McNally
Journal:  J Am Heart Assoc       Date:  2021-03-25       Impact factor: 6.106

  1 in total

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