Left ventricular noncompaction is associated with mutations in the mitochondrial genome

Tang, Sha; Batra, Anjan S.; Zhang, Yu; Ebenroth, Eric S.; Huang, Taosheng

doi:10.1016/j.mito.2010.02.003

Cited by 99 publications

(46 citation statements)

References 45 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…512 Mitochondrial genome mutations have also been identified. 513 As noted, chromosomal abnormalities and syndromic patients have also been identified with LVNC. 506,514,515 LVNC has also been associated with chromosome 8p23.1 deletion.…”

Section: Molecular Genetics Of Noncompaction Cardiomyopathymentioning

confidence: 88%

Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies: A Scientific Statement From the American Heart Association

Bozkurt¹,

Colvin²,

Cook³

et al. 2016

Circulation

602

663

View full text Add to dashboard Cite

CLINICAL STATEMENTS AND GUIDELINEST he intent of this American Heart Association (AHA) scientific statement is to summarize our current understanding of dilated cardiomyopathies. There is special emphasis on recent developments in diagnostic approaches and therapies for specific cardiomyopathies. Recommendations in this document are based on published studies, published practice guidelines from the American College of Cardiology (ACC)/AHA 1 and other organizations, 2,3 and the multidisciplinary expertise of the writing group. Existing evidence in epidemiology, classification, diagnosis, and management of specific cardiomyopathies is usually derived from nonrandomized observational studies, registries, case reports, or expert opinion based on clinical experience, not large-scale randomized clinical trials or systematic reviews. Therefore, in this document, rather than using the standard ACC/AHA classification schema of recommendations and level of evidence, 4 we have included key management strategies at the end of each section and categorized our recommendations according to the level of consensus. Although the format of our recommendations might resemble the ACC/AHA classification of recommendations used in the ACC/AHA practice guidelines, because of the preponderance of expert opinion or level of evidence C evidence in our document, we elected to use different terminology to provide a distinction from the practice guidelines, in which stronger levels and quality of evidence with randomized clinical trials or meta-analyses are usually present. 4 The levels of evidence follow the AHA and ACC methods of classifying the level of certainty of the treatment effect. 4 DEfINITIoN of DILATED CArDIoMyopAThyThe term dilated cardiomyopathy (DCM) refers to a spectrum of heterogeneous myocardial disorders that are characterized by ventricular dilation and depressed myocardial performance in the absence of hypertension, valvular, congenital, or ischemic heart disease. 5 In clinical practice, the pathogenesis of heart failure (HF) has often been placed into 2 categories: ischemic and nonischemic cardiomyopathy. The term nonischemic cardiomyopathy has been interchangeably used with DCM. Although this approach might be practical, it fails to recognize that nonischemic cardiomyopathy can include cardiomyopathies caused by volume or pressure overload (such as hypertension or valvular heart disease) that are not conventionally accepted under the definition of DCM. 1,5 Again, in general practice and clinical research trials, the term ischemic cardiomyopathy is defined as cardiomyopathy caused by ischemic heart disease. Current use of ischemic cardiomyopathy terminology implies ventricular dilation and depressed myocardial contractility caused by ischemia or infarction. CLASSIfICATIoN of CArDIoMyopAThIESThe first classification on this topic categorized cardiomyopathies as heart muscle diseases with dilated (DCM), hypertrophic, restrictive, arrhythmogenic right ventricular (ARVC), or nonclassifiable cardiomyopathy in 1980. 5 Subse...

show abstract

Section: Molecular Genetics Of Noncompaction Cardiomyopathymentioning

confidence: 88%

Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies: A Scientific Statement From the American Heart Association

Bozkurt¹,

Colvin²,

Cook³

et al. 2016

Circulation

602

663

View full text Add to dashboard Cite

show abstract

“…These gene products have functions related to cytoskeletal and/or mitochondrial function (Tang et al 2010). Another six loci located on chromosomes 1p36 (Thienpont et al 2007), 1q43 (Kanemoto et al 2006), 5q35 (Pauli et al 1999), 8p23 (Blinder et al 2011), and11p15 (Sasse-Klaassen et al 2004) also have been linked to the phenotype of nonsyndromic LVNC.…”

Section: Discussionmentioning

confidence: 99%

“…Another six loci located on chromosomes 1p36 (Thienpont et al 2007), 1q43 (Kanemoto et al 2006), 5q35 (Pauli et al 1999), 8p23 (Blinder et al 2011), and11p15 (Sasse-Klaassen et al 2004) also have been linked to the phenotype of nonsyndromic LVNC. While a number of genes and candidate loci have been reported with LVNC, only a minority of affecteds have been found to harbor causative mutations (Finsterer et al 2004;Ichida 2009;Tang et al 2010;Xing et al 2006). Although we and others have not able to rule out other genetic causes of LVNC in manifesting patients, that fact that other cblC patients have been diagnosed with LVNC (Profitlich et al 2009) and that the parents were unaffected in the case reported here provides some support for an association between cblC disease and LVNC.…”

Section: Discussionmentioning

confidence: 99%

Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease

Tanpaiboon

Sloan

Callahan³

et al. 2012

JIMD Reports

View full text Add to dashboard Cite

Cobalamin C disease (cblC), a form of combined methylmalonic acidemia and hyperhomocysteinemia caused by mutations in the MMACHC gene, may be the most common inborn error of intracellular cobalamin metabolism. The clinical manifestations of cblC disease are diverse and range from intrauterine growth retardation to adult onset neurological disease. The occurrence of structural heart defects appears to be increased in cblC patients and may be related to the function of the MMACHC enzyme during cardiac embryogenesis, a concept supported by the observation that Mmachc is expressed in the bulbis cordis of the developing mouse heart. Here we report an infant who presented with hydrops fetalis, ventricular dysfunction, and echocardiographic evidence of LVNC, a rare congenital cardiomyopathy. Metabolic evaluations, complementation studies, and mutation analysis confirmed the diagnosis of cblC disease. These findings highlight an intrauterine cardiac phenotype that can be displayed in cblC disease in association with nonimmune hydrops.

show abstract

“…15,16 To further delineate genetic causes of LVNC and establish genotype-phenotype relationships, Jefferies et al 4 performed whole exome sequencing along with detailed phenotypic/ magnetic resonance imaging characterization on 190 patients from 174 unrelated families with LVNC or LVHT, and 425 control subjects. In whole exome sequencing analysis of each individual, the authors searched for rare and predicted damaging variants falling in 54 LVNC-associated genes, or genes previously implicated in other cardiomyopathies.…”

Section: Molecular Underpinnings Of Lvncmentioning

confidence: 99%

Navigating Genetic and Phenotypic Uncertainty in Left Ventricular Noncompaction

Rhee

Grove

Ashley

2017

Circ Cardiovasc Genet

View full text Add to dashboard Cite

Left ventricular noncompaction is associated with mutations in the mitochondrial genome

Cited by 99 publications

References 45 publications

Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies: A Scientific Statement From the American Heart Association

Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies: A Scientific Statement From the American Heart Association

Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease

Navigating Genetic and Phenotypic Uncertainty in Left Ventricular Noncompaction

Contact Info

Product

Resources

About