Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals (Q35054950)

6 August 2017

Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals (English)

1 reference

6 August 2017

dilated cardiomyopathy

1 reference

Ray E Hershberger

1

1 reference

6 August 2017

Ana Morales

series ordinal

2

1 reference

6 August 2017

Jill D Siegfried

series ordinal

3

1 reference

6 August 2017

language of work or name

English

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publication date

1 November 2010

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6 August 2017

13

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inferred from page(s)

published in

Genetics in Medicine

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6 August 2017

12

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6 August 2017

11

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6 August 2017

655-667

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https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181f2481f

6 August 2017

0 references

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Late onset sporadic dilated cardiomyopathy caused by a cardiac troponin T mutation

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Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.

8 July 2018

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8 July 2018

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Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy.

8 July 2018

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A glimpse into multigene rare variant genetics: triple mutations in hypertrophic cardiomyopathy

8 July 2018

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

8 July 2018

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Common susceptibility variants examined for association with dilated cardiomyopathy.

8 July 2018

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Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

8 July 2018

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Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption

8 July 2018

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Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy

8 July 2018

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Arrhythmogenic cardiomyopathy: etiology, diagnosis, and treatment

8 July 2018

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Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy

8 July 2018

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Heart Disease and Stroke Statistics--2010 Update: A Report From the American Heart Association

8 July 2018

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Exome sequencing identifies the cause of a mendelian disorder

8 July 2018

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Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy.

8 July 2018

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Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy

8 July 2018

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Targeted capture and massively parallel sequencing of 12 human exomes

8 July 2018

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Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy

8 July 2018

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Common vs. rare allele hypotheses for complex diseases

8 July 2018

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Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy

8 July 2018

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The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy

8 July 2018

1 reference

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Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline

8 July 2018

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Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathy

8 July 2018

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Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology

8 July 2018

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Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

8 July 2018

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Common and rare variants in multifactorial susceptibility to common diseases

8 July 2018

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Family history: an essential tool for cardiovascular genetic medicine

8 July 2018

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Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy

8 July 2018

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Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy

8 July 2018

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Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells

8 July 2018

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Genetics of dilated cardiomyopathy

8 July 2018

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Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression

8 July 2018

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Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

8 July 2018

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Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Mutations of presenilin genes in dilated cardiomyopathy and heart failure

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Cardiomyopathy, familial dilated

8 July 2018

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Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Executive summary: HFSA 2006 Comprehensive Heart Failure Practice Guideline

8 July 2018

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ACC/AHA 2005 Guideline Update for the Diagnosis and Management of Chronic Heart Failure in the Adult: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Update the [...]

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Pregnancy-associated cardiomyopathy: clinical characteristics and a comparison between early and late presentation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Clinical and genetic issues in familial dilated cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Sodium channel mutations and susceptibility to heart failure and atrial fibrillation

8 July 2018

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Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

How do mutations in lamins A and C cause disease?

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the Euro

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Mutations in the muscle LIM protein and α-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Lamin A/C truncation in dilated cardiomyopathy with conduction disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human

8 July 2018

1 reference

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Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Beyond Mendel: an evolving view of human genetic disease transmission

8 July 2018

1 reference

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Hypertrophic cardiomyopathy: a systematic review

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

The "final common pathway" hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Desmin mutation responsible for idiopathic dilated cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Idiopathic dilated cardiomyopathy: familial prevalence and HLA distribution

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

A novel X-linked gene, G4.5. is responsible for Barth syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

The Frequency of Familial Dilated Cardiomyopathy in a Series of Patients with Idiopathic Dilated Cardiomyopathy

8 July 2018

1 reference

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Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute workshop

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Effect of enalapril on mortality and the development of heart failure in asymptomatic patients with reduced left ventricular ejection fractions

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118426

Idiopathic Dilated Cardiomyopathy

8 July 2018

1 reference

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Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy

21 January 2018

1 reference

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Epidemiology of desmin and cardiac actin gene mutations in a european population of dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F2481F

Early and sustained benefit on event-free survival and heart failure hospitalization from fixed-dose combination of isosorbide dinitrate/hydralazine: consistency across subgroups in the African-American Heart Failure Trial

21 January 2018

1 reference

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Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.

21 January 2018

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Metavinculin mutations alter actin interaction in dilated cardiomyopathy.

21 January 2018

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Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy.

21 January 2018

1 reference

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Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F2481F

Alpha B-crystallin mutation in dilated cardiomyopathy

21 January 2018

1 reference

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

21 January 2018

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LMNA mutations in cardiac transplant recipients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F2481F

Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy.

21 January 2018

1 reference

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Echocardiographic measurements in normal subjects from infancy to old age.

21 January 2018

1 reference

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Distribution and categorization of echocardiographic measurements in relation to reference limits: the Framingham Heart Study: formulation of a height- and sex-specific classification and its prospective validation

21 January 2018

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Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation

21 January 2018

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Yield of genetic testing in hypertrophic cardiomyopathy.

21 January 2018

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Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

21 January 2018

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Compound mutations: a common cause of severe long-QT syndrome.

21 January 2018

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Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.

21 January 2018

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Frequency and phenotypes of familial dilated cardiomyopathy.

25 October 2018

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Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene

25 October 2018

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Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations

21 January 2018

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How Really Rare Are Rare Diseases?:

21 January 2018

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A novel mutation, Arg71Thr, in the ?-sarcoglycan gene is associated with dilated cardiomyopathy

21 January 2018

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12 December 2020

Familial dilated cardiomyopathy: echocardiographic diagnostic criteria for classification of family members as affected

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Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy

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Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984

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

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2009 Focused update incorporated into the ACC/AHA 2005 Guidelines for the Diagnosis and Management of Heart Failure in Adults A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines Deve

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High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation

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

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Point mutations in mitochondrial DNA of patients with dilated cardiomyopathy

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Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity

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Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease

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The complete sequence of mtDNA genes in idiopathic dilated cardiomyopathy shows novel missense and tRNA mutations

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X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus

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12 December 2020

Prevalence of Desmin Mutations in Dilated Cardiomyopathy

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Genetic Counseling and Screening Issues in Familial Dilated Cardiomyopathy

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Natural course of peripartum cardiomyopathy

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

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How really rare are rare diseases?: the intriguing case of independent compound mutations in the long QT syndrome

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Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement

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Familial dilated cardiomyopathy

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A novel mitochondrial DNA tRNAIle (m.4322dupC) mutation associated with idiopathic dilated cardiomyopathy

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10.1097/GIM.0B013E3181F2481F

Identifiers

DOI

1 reference

Dimensions Publication ID

6 August 2017

0 references

1 reference

6 August 2017

1 reference