Literature DB >> 25415959

Novel mutation in exon 14 of the sarcomere gene MYH7 in familial left ventricular noncompaction with bicuspid aortic valve.

Ratnadeep Basu1, Saugata Hazra1, Miriam Shanks1, David I Paterson1, Gavin Y Oudit2.   

Abstract

Entities:  

Keywords:  bicuspid aortic valve; cardiomyopathies; mutation

Mesh：

Substances：

Year:  2014        PMID： 25415959     DOI： 10.1161/CIRCHEARTFAILURE.114.001666

Source DB:  PubMed          Journal:  Circ Heart Fail        ISSN： 1941-3289            Impact factor:   8.790


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  8 in total

Review 1.  Genetics in bicuspid aortic valve disease: Where are we?

Authors:  Katia Bravo-Jaimes; Siddharth K Prakash
Journal:  Prog Cardiovasc Dis       Date:  2020-06-27       Impact factor: 8.194

2.  Late appearance of left ventricular non-compaction in a patient with aortic coarctation and bicuspid aortic valve.

Authors:  Maria Bonou; Eva D Papadimitraki; Nikolaos Alexopoulos; Ioannis Paizis; Spiros Rammos; John Barbetseas
Journal:  Int J Cardiovasc Imaging       Date:  2016-01-05       Impact factor: 2.357

Review 3.  Genetics of Cardiac Developmental Disorders: Cardiomyocyte Proliferation and Growth and Relevance to Heart Failure.

Authors:  Lisa Wilsbacher; Elizabeth M McNally
Journal:  Annu Rev Pathol       Date:  2016-02-24       Impact factor: 23.472

4.  Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart.

Authors:  Emilie Auxerre-Plantié; Tanja Nielsen; Marcel Grunert; Olga Olejniczak; Andreas Perrot; Cemil Özcelik; Dennis Harries; Faramarz Matinmehr; Cristobal Dos Remedios; Christian Mühlfeld; Theresia Kraft; Rolf Bodmer; Georg Vogler; Silke R Sperling
Journal:  Dis Model Mech       Date:  2020-12-18       Impact factor: 5.758

Review 5.  Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?

Authors:  Valentina Lodato; Giovanni Parlapiano; Federica Calì; Massimo Stefano Silvetti; Rachele Adorisio; Michela Armando; May El Hachem; Antonino Romanzo; Carlo Dionisi-Vici; Maria Cristina Digilio; Antonio Novelli; Fabrizio Drago; Massimiliano Raponi; Anwar Baban
Journal:  J Cardiovasc Dev Dis       Date:  2022-01-31

6.  Case Report: Tetralogy of Fallot in a Chinese Family Caused by a Novel Missense Variant of MYOM2.

Authors:  Jing Wang; Chunyan Wang; Haiyang Xie; Xiaoyuan Feng; Lei Wei; Binbin Wang; Tengyan Li; Mingan Pi; Li Gong
Journal:  Front Cardiovasc Med       Date:  2022-07-07

7.  A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects.

Authors:  I H M van der Linde; Y L Hiemstra; R Bökenkamp; A M van Mil; M H Breuning; C Ruivenkamp; S W Ten Broeke; R F Veldkamp; J I van Waning; M A van Slegtenhorst; K Y van Spaendonck-Zwarts; R H Lekanne Deprez; J C Herkert; L Boven; P A van der Zwaag; J D H Jongbloed; M Bootsma; D Q C M Barge-Schaapveld
Journal:  Neth Heart J       Date:  2017-09-01       Impact factor: 2.380

8.  Rare Variants in Genes Associated With Cardiomyopathy Are Not Common in Hypoplastic Left Heart Syndrome Patients With Myocardial Dysfunction.

Authors:  Emmi Helle; Jaana Pihkala; Riitta Turunen; Hanna Ruotsalainen; Sari Tuupanen; Juha Koskenvuo; Tiina Ojala
Journal:  Front Pediatr       Date:  2020-10-30       Impact factor: 3.418
  8 in total

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