Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management (Q30459704)

14 August 2017

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22 March 2019

24 March 2019

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12 October 2019

25 July 2020

Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management (English)

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14 August 2017

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5 references

22 March 2019

24 March 2019

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12 October 2019

25 July 2020

5 references

22 March 2019

24 March 2019

17 June 2019

12 October 2019

25 July 2020

mitochondrial disease

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22 March 2019

24 March 2019

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12 October 2019

25 July 2020

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12 October 2019

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25 July 2020

Robert William Taylor

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object named as

Robert W Taylor

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Douglass Matthew Turnbull

14 August 2017

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object named as

Douglass M Turnbull

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14 August 2017

3

Carla Giordano

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14 August 2017

Matthew G D Bates

1

1 reference

14 August 2017

John P Bourke

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14 August 2017

Giulia d'Amati

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14 August 2017

language of work or name

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30 August 2012

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1 December 2012

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24 March 2019

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12 October 2019

25 July 2020

European Heart Journal

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14 August 2017

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33

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3023-3033

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Creative Commons Attribution-NonCommercial 3.0 Unported

14 August 2017

5 references

22 March 2019

24 March 2019

17 June 2019

12 October 2019

on focus list of Wikimedia project

25 July 2020

ScienceSource

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy

14 July 2018

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Roles of mitochondria in human disease

14 July 2018

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Age-dependent cardiomyopathy in mitochondrial mutator mice is attenuated by overexpression of catalase targeted to mitochondria.

14 July 2018

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Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease

14 July 2018

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Mitochondrial DNA mutations and human disease

14 July 2018

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Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction

14 July 2018

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Pathogenic mitochondrial DNA mutations are common in the general population

14 July 2018

1 reference

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Mutations in sarcomere protein genes in left ventricular noncompaction

14 July 2018

1 reference

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A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

14 July 2018

1 reference

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Diagnosis of left-ventricular non-compaction in patients with left-ventricular systolic dysfunction: time for a reappraisal of diagnostic criteria?

14 July 2018

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The role of endomyocardial biopsy in the management of cardiovascular disease: a scientific statement from the American Heart Association, the American College of Cardiology, and the European Society of Cardiology Endorsed by the Heart Failure Socie

14 July 2018

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Prevalence of mitochondrial DNA disease in adults

14 July 2018

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Guidelines for cardiac pacing and cardiac resynchronization therapy: The Task Force for Cardiac Pacing and Cardiac Resynchronization Therapy of the European Society of Cardiology. Developed in collaboration with the European Heart Rhythm Association

14 July 2018

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Mitochondrial DNA mutations in human disease

14 July 2018

1 reference

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Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

14 July 2018

1 reference

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A switch in metabolism precedes increased mitochondrial biogenesis in respiratory chain-deficient mouse hearts

14 July 2018

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ACC/AHA/ESC guidelines for the management of patients with supraventricular arrhythmias--executive summary. a report of the American college of cardiology/American heart association task force on practice guidelines and the European society of cardi

14 July 2018

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Sustained polymorphic ventricular tachycardia unassociated with QT prolongation or bradycardia in the Kearns-Sayre syndrome.

14 July 2018

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Cardiac abnormalities in patients with Leber's hereditary optic neuropathy

14 July 2018

1 reference

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Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion

14 July 2018

1 reference

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Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction

14 July 2018

1 reference

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Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings

14 July 2018

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Increased mitochondrial mass in mitochondrial myopathy mice

14 July 2018

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Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G.

14 July 2018

1 reference

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Gene regulatory mechanisms governing energy metabolism during cardiac hypertrophic growth

14 July 2018

1 reference

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Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530901

Heart transplantation in children with mitochondrial cardiomyopathy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530901

Histiocytoid cardiomyopathy: three new cases and a review of the literature

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530901

Mitochondrial disease in mouse results in increased oxidative stress

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530901

A follow up study of myocardial involvement in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530901

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530901

Cardiac transplantation in an incomplete Kearns-Sayre syndrome with mitochondrial DNA deletion

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530901

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530901

Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530901

Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase

14 July 2018

1 reference

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Cytochrome-c-oxidase deficient cardiomyocytes in the human heart--an age-related phenomenon. A histochemical ultracytochemical study.

14 July 2018

1 reference

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Kearns-Sayre syndrome and dilated cardiomyopathy

14 July 2018

1 reference

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14 July 2018

Mitochondrial cytopathy

1 reference

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Cardiac conduction in the Kearns-Sayre syndrome (a neuromuscular disorder associated with progressive external ophthalmoplegia and pigmentary retinopathy). Report of 2 cases and review of 17 published cases

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530901

Causes of death in pedigrees with the 3243A>G mutation in mitochondrial DNA.

14 July 2018

1 reference

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A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

Risk of developing a mitochondrial DNA deletion disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

Induction of mitochondrial biogenesis is a maladaptive mechanism in mitochondrial cardiomyopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

Cardiac-specific induction of the transcriptional coactivator peroxisome proliferator-activated receptor gamma coactivator-1alpha promotes mitochondrial biogenesis and reversible cardiomyopathy in a developmental stage-dependent manner

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

Cardiac involvement in adults with m.3243A>G MELAS gene mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

Left ventricular noncompaction is associated with mutations in the mitochondrial genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

Wolff-Parkinson-White syndrome in Patients With MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Developed in collaboration with the Ameri

21 January 2018

1 reference

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Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

Abnormal cardiac energetics in patients carrying the A3243G mtDNA mutation measured in vivo using phosphorus MR spectroscopy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

Resistance training in patients with single, large-scale deletions of mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

Long-term follow-up of arrhythmias in patients with myotonic dystrophy treated by pacing: a multicenter diagnostic pacemaker study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHS275

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 Europ

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3530901

Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA

26 November 2018

1 reference

12 December 2020

Mitochondrial A3243G mutation with manifestation of acute dilated cardiomyopathy

1 reference

12 December 2020

Pre-excitation syndrome in Leber's hereditary optic neuropathy

1 reference

12 December 2020

Mitochondrial mutation in fatal infantile cardiomyopathy

1 reference

12 December 2020

Kearns-Sayre syndrome associated with trifascicular block and QT prolongation

1 reference

12 December 2020

A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA

1 reference

12 December 2020

A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy

1 reference

12 December 2020

Images in cardiovascular medicine. Mitochondrial cardiomyopathy evaluated with cardiac magnetic resonance

1 reference

12 December 2020

Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF)

1 reference

12 December 2020

Coordinate induction of energy gene expression in tissues of mitochondrial disease patients

1 reference

12 December 2020

Cardiac transplantation in a 14-yr-old patient with mitochondrial encephalomyopathy

1 reference

12 December 2020

Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases

1 reference

12 December 2020

Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1

1 reference

12 December 2020

The common 4977 base pair deletion of mitochondrial DNA preferentially accumulates in the cardiac conduction system of patients with Kearns-Sayre syndrome

1 reference

12 December 2020

Wolff-Parkinson-White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathy

1 reference

12 December 2020

Mitochondriopathy: a rare aetiology of restrictive cardiomyopathy

1 reference

12 December 2020

Mitochondrial cardiomyopathy

1 reference

12 December 2020

Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis

1 reference

12 December 2020

Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy

1 reference

12 December 2020

Mitochondrial respiratory chain disease in children undergoing cardiac transplantation: a prospective study

1 reference

12 December 2020

Identifiers

DOI

10.1093/EURHEARTJ/EHS275

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

22936362

1 reference