Novel mutations in beta-myosin heavy chain, actin and troponin-I genes associated with dilated cardiomyopathy in Indian population

Boda, Ushasree; Vadapalli, Shivani; Calambur, Narsimhan; Nallari, Pratibha

doi:10.1007/s12041-009-0057-3

Cited by 3 publications

(6 citation statements)

References 18 publications

(15 reference statements)

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“…Pathogenic variants have been reported following an autosomic dominant but also a recessive pattern of inheritance (see data below). Regarding dominant pattern, a total of 10 pathogenic variants have been reported, 10 missense (CM109301, CM094825, CM0910150, CM0910151, CM117176, CM103040, CM122824, CM122825, and CM094826), and 1 small deletion (CD1010249) [57,60,[71][72][73][74][75][76].…”

Section: Accepted Manuscriptmentioning

confidence: 99%

Genetic basis of dilated cardiomyopathy

Pérez‐Serra

Toro

Sarquella-Brugada

et al. 2016

International Journal of Cardiology

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Section: Accepted Manuscriptmentioning

confidence: 99%

Genetic basis of dilated cardiomyopathy

Pérez‐Serra

Toro

Sarquella-Brugada

et al. 2016

International Journal of Cardiology

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“…Pathological chromosome 14 mutations of the MYH7 gene can have deleterious effects on the β-cardiac myosin heavy chain structure, leading to dilated and hypertrophic cardiomyopathies and impairment of cardiac inotropy [ 1 , 2 , 9 ]. This case contributes to the growing body of evidence linking MYH7 mutations not only to cardiomyopathies but also to a broader spectrum of cardiac pathologies, including myocarditis and structural heart diseases, such as BAV and excessive trabeculation.…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…The myosin heavy chain 7 ( MYH7 ) sarcomere gene codes for the β-cardiac myosin heavy chain within cardiomyocytes, an essential protein structure for cardiac contractility [ 1 , 2 ]. Excitation-contraction coupling is the mechanism that underpins cardiac inotropy, which is facilitated by myosin moving along actin filaments to create myocardial contraction [ 1 ]. MYH7 gene mutations have been associated with dilated and hypertrophic cardiomyopathies, which can lead to complications such as heart failure and sudden cardiac death [ 1 , 3 ].…”

Section: Introductionmentioning

confidence: 99%

“…Excitation-contraction coupling is the mechanism that underpins cardiac inotropy, which is facilitated by myosin moving along actin filaments to create myocardial contraction [ 1 ]. MYH7 gene mutations have been associated with dilated and hypertrophic cardiomyopathies, which can lead to complications such as heart failure and sudden cardiac death [ 1 , 3 ]. These same mutations have also been linked to cardiac pathologies such as excessive trabeculation (formerly known as left ventricular noncompaction), bicuspid aortic valves (BAV), and myocarditis [ 4 - 7 ].…”

Section: Introductionmentioning

confidence: 99%

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Myosin Heavy Chain 7 (MYH7) Variant Associated Cardiovascular Disease: An Unusual Case of Heart Failure in a Young Male

Latchupatula,

Benayon,

Mansoor

et al. 2024

Cureus

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A 37-year-old male with type two diabetes presented to the hospital with new-onset heart failure and renal dysfunction. His left ventricular (LV) ejection fraction was less than 10%. Transthoracic echocardiography and cardiovascular magnetic resonance (CMR) imaging also revealed severe bicuspid aortic valve stenosis, dilated cardiomyopathy with LV hypertrophy, prominent LV trabeculations, and features suggestive of mild myocarditis with active inflammation. While myocarditis was suspected on CMR imaging, his mild degree of myocardial involvement did not explain the entirety of his clinical presentation, degree of LV dysfunction, or other structural abnormalities. An extensive work-up for his LV dysfunction was unremarkable for ischemic, metabolic, infiltrative, infectious, toxic, oncologic, connective tissue, and autoimmune etiologies. Genetic testing was positive for a myosin heavy chain 7 ( MYH7 ) variant, which was deemed likely to be a unifying etiology underlying his presentation. The MYH7 sarcomere gene allows beta-myosin expression in heart ventricles, with variants associated with hypertrophic and dilated cardiomyopathies, congenital heart diseases, myocarditis, and excessive trabeculation (formerly known as left ventricular noncompaction). This case highlights the diverse array of cardiac pathologies that can present with MYH7 gene variants and reviews an extensive work-up for this unusual presentation of heart failure in a young patient.

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Aerosol from Tobacco Heating System 2.2 has reduced impact on mouse heart gene expression compared with cigarette smoke

Szostak

Boué

Talikka

et al. 2017

Food and Chemical Toxicology

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Experimental studies clearly demonstrate a causal effect of cigarette smoking on cardiovascular disease. To reduce the individual risk and population harm caused by smoking, alternative products to cigarettes are being developed. We recently reported on an apolipoprotein E-deficient (Apoe) mouse inhalation study that compared the effects of exposure to aerosol from a candidate modified risk tobacco product, Tobacco Heating System 2.2 (THS2.2), and smoke from the reference cigarette (3R4F) on pulmonary and vascular biology. Here, we applied a transcriptomics approach to evaluate the impact of the exposure to 3R4F smoke and THS2.2 aerosol on heart tissues from the same cohort of mice. The systems response profiles demonstrated that 3R4F smoke exposure led to time-dependent transcriptomics changes (False Discovery Rate (FDR) < 0.05; 44 differentially expressed genes at 3-months; 491 at 8-months). Analysis of differentially expressed genes in the heart tissue indicated that 3R4F exposure induced the downregulation of genes involved in cytoskeleton organization and the contractile function of the heart, notably genes that encode beta actin (Actb), actinin alpha 4 (Actn4), and filamin C (Flnc). This was accompanied by the downregulation of genes related to the inflammatory response. None of these effects were observed in the group exposed to THS2.2 aerosol.

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Novel mutations in beta-myosin heavy chain, actin and troponin-I genes associated with dilated cardiomyopathy in Indian population

Cited by 3 publications

References 18 publications

Genetic basis of dilated cardiomyopathy

Genetic basis of dilated cardiomyopathy

Myosin Heavy Chain 7 (MYH7) Variant Associated Cardiovascular Disease: An Unusual Case of Heart Failure in a Young Male

Aerosol from Tobacco Heating System 2.2 has reduced impact on mouse heart gene expression compared with cigarette smoke

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