Literature DB >> 30128729

Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies.

Babken Asatryan1, Argelia Medeiros-Domingo2.   

Abstract

Cardiomyopathies are primarily genetic disorders of the myocardium associated with higher risk of life-threatening cardiac arrhythmias, heart failure, and sudden cardiac death. The evolving knowledge in genomic medicine during the last decade has reshaped our understanding of cardiomyopathies as diseases of multifactorial nature and complex pathophysiology. Genetic testing in cardiomyopathies has subsequently grown from primarily a research tool into an essential clinical evaluation piece with important clinical implications for patients and their families. The purpose of this review is to provide with a contemporary insight into the implications of genetic testing in diagnosis, therapy, and prognosis of patients with inherited cardiomyopathies. Here, we summarize the contemporary knowledge on genotype-phenotype correlations in inherited cardiomyopathies and highlight the recent significant achievements in the field of translational cardiovascular genetics.

Entities:  

Keywords:  Arrhythmia; Cardiomyopathy; Genetic test; Genetics; Sudden cardiac arrest; Sudden death

Mesh:

Year:  2018        PMID: 30128729     DOI: 10.1007/s00109-018-1685-y

Source DB:  PubMed          Journal:  J Mol Med (Berl)        ISSN: 0946-2716            Impact factor:   4.599


  379 in total

1.  Correction of a pathogenic gene mutation in human embryos.

Authors:  Hong Ma; Nuria Marti-Gutierrez; Sang-Wook Park; Jun Wu; Yeonmi Lee; Keiichiro Suzuki; Amy Koski; Dongmei Ji; Tomonari Hayama; Riffat Ahmed; Hayley Darby; Crystal Van Dyken; Ying Li; Eunju Kang; A-Reum Park; Daesik Kim; Sang-Tae Kim; Jianhui Gong; Ying Gu; Xun Xu; David Battaglia; Sacha A Krieg; David M Lee; Diana H Wu; Don P Wolf; Stephen B Heitner; Juan Carlos Izpisua Belmonte; Paula Amato; Jin-Soo Kim; Sanjiv Kaul; Shoukhrat Mitalipov
Journal:  Nature       Date:  2017-08-02       Impact factor: 49.962

2.  Identification of a gene responsible for familial Wolff-Parkinson-White syndrome.

Authors:  M H Gollob; M S Green; A S Tang; T Gollob; A Karibe; A S Ali Hassan ; F Ahmad; R Lozado; G Shah; L Fananapazir; L L Bachinski; R Roberts; A S Hassan
Journal:  N Engl J Med       Date:  2001-06-14       Impact factor: 91.245

3.  Lysosomal glycogen storage disease with normal acid maltase.

Authors:  M J Danon; S J Oh; S DiMauro; J R Manaligod; A Eastwood; S Naidu; L H Schliselfeld
Journal:  Neurology       Date:  1981-01       Impact factor: 9.910

4.  Sudden death in childhood cardiomyopathy: results from a long-term national population-based study.

Authors:  Tara Bharucha; Katherine J Lee; Piers E F Daubeney; Alan W Nugent; Christian Turner; Gary F Sholler; Terry Robertson; Robert Justo; Jim Ramsay; John B Carlin; Steven D Colan; Ingrid King; Robert G Weintraub; Andrew M Davis
Journal:  J Am Coll Cardiol       Date:  2015-06-02       Impact factor: 24.094

5.  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

6.  Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.

Authors:  Jessica R Golbus; Megan J Puckelwartz; Lisa Dellefave-Castillo; John P Fahrenbach; Viswateja Nelakuditi; Lorenzo L Pesce; Peter Pytel; Elizabeth M McNally
Journal:  Circ Cardiovasc Genet       Date:  2014-09-01

7.  Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.

Authors:  Sofia Ahola; Pirjo Isohanni; Liliya Euro; Virginia Brilhante; Aarno Palotie; Helena Pihko; Tuula Lönnqvist; Tanita Lehtonen; Jukka Laine; Henna Tyynismaa; Anu Suomalainen
Journal:  Neurology       Date:  2014-07-18       Impact factor: 9.910

8.  Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy.

Authors:  E Arbustini; M Diegoli; R Fasani; M Grasso; P Morbini; N Banchieri; O Bellini; B Dal Bello; A Pilotto; G Magrini; C Campana; P Fortina; A Gavazzi; J Narula; M Viganò
Journal:  Am J Pathol       Date:  1998-11       Impact factor: 4.307

9.  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

10.  Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

Authors:  James S Ware; Jian Li; Erica Mazaika; Christopher M Yasso; Tiffany DeSouza; Thomas P Cappola; Emily J Tsai; Denise Hilfiker-Kleiner; Chizuko A Kamiya; Francesco Mazzarotto; Stuart A Cook; Indrani Halder; Sanjay K Prasad; Jessica Pisarcik; Karen Hanley-Yanez; Rami Alharethi; Julie Damp; Eileen Hsich; Uri Elkayam; Richard Sheppard; Angela Kealey; Jeffrey Alexis; Gautam Ramani; Jordan Safirstein; John Boehmer; Daniel F Pauly; Ilan S Wittstein; Vinay Thohan; Mark J Zucker; Peter Liu; John Gorcsan; Dennis M McNamara; Christine E Seidman; Jonathan G Seidman; Zoltan Arany
Journal:  N Engl J Med       Date:  2016-01-06       Impact factor: 91.245

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  2 in total

1.  Frequency, Penetrance, and Variable Expressivity of Dilated Cardiomyopathy-Associated Putative Pathogenic Gene Variants in UK Biobank Participants.

Authors:  Ravi A Shah; Babken Asatryan; Ghaith Sharaf Dabbagh; Nay Aung; Mohammed Y Khanji; Luis R Lopes; Stefan van Duijvenboden; Anthony Holmes; Daniele Muser; Andrew P Landstrom; Aaron Mark Lee; Pankaj Arora; Christopher Semsarian; Virend K Somers; Anjali T Owens; Patricia B Munroe; Steffen E Petersen; C Anwar A Chahal
Journal:  Circulation       Date:  2022-06-16       Impact factor: 39.918

Review 2.  State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy.

Authors:  Viraj Patel; Babken Asatryan; Bhurint Siripanthong; Patricia B Munroe; Anjali Tiku-Owens; Luis R Lopes; Mohammed Y Khanji; Alexandros Protonotarios; Pasquale Santangeli; Daniele Muser; Francis E Marchlinski; Peter A Brady; C Anwar A Chahal
Journal:  Int J Mol Sci       Date:  2020-09-10       Impact factor: 5.923

  2 in total

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