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Literature DB >> 25873806

Left ventricular noncompaction in a family with lamin A/C gene mutation.

John J Parent, Jeffrey A Towbin, John L Jefferies.

Abstract

Left ventricular noncompaction is a rare type of cardiomyopathy, the genetics of which are poorly understood to date. Lamin A/C gene mutations have been associated with dilated cardiomyopathy and diseases of the conduction system, but rarely in left ventricular noncompaction cardiomyopathy. This report describes the cases of 4 family members with a lamin A/C gene mutation, 3 of whom had phenotypic expression of left ventricular noncompaction.

Entities: Disease Gene Mutation

Keywords: Arginine/genetics; cardiomyopathies/genetics; cysteine/genetics; echocardiography; genetic testing; genotype; lamin C/genetics; lamin type A/genetics; laminopathy; left ventricular noncompaction; magnetic resonance imaging; mutation; pedigree; phenotype; proteins/genetics

Mesh：

Substances：

Year: 2015 PMID： 25873806 PMCID： PMC4378052 DOI： 10.14503/THIJ-13-3843

Source DB: PubMed Journal: Tex Heart Inst J ISSN： 0730-2347

22 in total

Review 1. Left ventricular noncompaction: a new form of heart failure.

Authors: Jeffrey A Towbin
Journal: Heart Fail Clin Date: 2010-10 Impact factor: 3.179

Review 2. Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity?

Authors: Erwin Oechslin; Rolf Jenni
Journal: Eur Heart J Date: 2011-01-31 Impact factor: 29.983

3. A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation.

Authors: Ray E Hershberger; Emily L Hanson; Petra M Jakobs; Hugh Keegan; Kelly Coates; Sylvia Bousman; Michael Litt
Journal: Am Heart J Date: 2002-12 Impact factor: 4.749

4. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy.

Authors: R Jenni; E Oechslin; J Schneider; C Attenhofer Jost; P A Kaufmann
Journal: Heart Date: 2001-12 Impact factor: 5.994

5. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.

Authors: Matthew R G Taylor; Pamela R Fain; Gianfranco Sinagra; Misi L Robinson; Alastair D Robertson; Elisa Carniel; Andrea Di Lenarda; Teresa J Bohlmeyer; Debra A Ferguson; Gary L Brodsky; Mark M Boucek; Jean Lascor; Andrew C Moss; Wai Lun P Li; Gary L Stetler; Francesco Muntoni; Michael R Bristow; Luisa Mestroni
Journal: J Am Coll Cardiol Date: 2003-03-05 Impact factor: 24.094

6. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

Authors: D Fatkin; C MacRae; T Sasaki; M R Wolff; M Porcu; M Frenneaux; J Atherton; H J Vidaillet; S Spudich; U De Girolami; J G Seidman; C Seidman; F Muntoni; G Müehle; W Johnson; B McDonough
Journal: N Engl J Med Date: 1999-12-02 Impact factor: 91.245

7. Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.

Authors: P M Jakobs; E L Hanson; K A Crispell; W Toy; H Keegan; K Schilling; T B Icenogle; M Litt; R E Hershberger
Journal: J Card Fail Date: 2001-09 Impact factor: 5.712

8. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.

Authors: Eloisa Arbustini; Andrea Pilotto; Alessandra Repetto; Maurizia Grasso; Andrea Negri; Marta Diegoli; Carlo Campana; Laura Scelsi; Elisa Baldini; Antonello Gavazzi; Luigi Tavazzi
Journal: J Am Coll Cardiol Date: 2002-03-20 Impact factor: 24.094

9. Mortality and sudden death in pediatric left ventricular noncompaction in a tertiary referral center.

Authors: Samuel T Brescia; Joseph W Rossano; Ricardo Pignatelli; John L Jefferies; Jack F Price; Jamie A Decker; Susan W Denfield; W Jeffrey Dreyer; O'Brian Smith; Jeffrey A Towbin; Jeffrey J Kim
Journal: Circulation Date: 2013-04-30 Impact factor: 29.690

10. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.

Authors: G L Brodsky; F Muntoni; S Miocic; G Sinagra; C Sewry; L Mestroni
Journal: Circulation Date: 2000-02-08 Impact factor: 29.690

9 in total

1. Lamin A/C mutations do not cause left ventricular hypertrabeculation/noncompaction.

Authors: Josef Finsterer; Sinda Zarrouk-Mahjoub
Journal: Tex Heart Inst J Date: 2015-06-01

Review 2. Precision medicine approach to genetic cardiomyopathy.

Authors: K Filonenko; H A Katus; B Meder
Journal: Herz Date: 2017-08 Impact factor: 1.443

Review 3. Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors.

Authors: Josef Finsterer; Claudia Stöllberger; Jeffrey A Towbin
Journal: Nat Rev Cardiol Date: 2017-01-12 Impact factor: 32.419

4. Left Ventricular Trabeculation and Noncompaction Cardiomyopathy: A Review.

Authors: Perry Wengrofsky; Christopher Armenia; Filip Oleszak; Eric Kupferstein; Chandra Rednam; Cristina A Mitre; Samy I McFarlane
Journal: EC Clin Exp Anat Date: 2019-07-29

5. Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Authors: Yubi Lin; Jiana Huang; Zhiling Zhu; Zuoquan Zhang; Jianzhong Xian; Zhe Yang; Tingfeng Qin; Linxi Chen; Jingmin Huang; Yin Huang; Qiaoyun Wu; Zhenyu Hu; Xiufang Lin; Geyang Xu
Journal: Orphanet J Rare Dis Date: 2021-11-24 Impact factor: 4.123