Genetic causes of human heart failure

Morita, Hiroyuki; Seidman, Jonathan G.; Seidman, Christine E.

doi:10.1172/jci24351

Cited by 227 publications

(117 citation statements)

References 98 publications

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“…However, in the decompensated period, they lead to depressed contractility of the failing heart and increased blood pressure by causing maladaptive remodeling of the ventricular and vascular (Braunwald, 2013). More recently, cardiac genetic research has identified several important monogenic disorders or gene mutations of inherited cardiomyopathies that lead to HF (Morita et al, 2005;Herman et al, 2012;Towbin, 2014). In addition, the current investigations focused on searching for disease-associated genetic variants by scanning the entire genome using genome-wide-association-studies (Zeller et al, 2012).…”

Section: Epidemiology and Pathophysiology Of Hfmentioning

confidence: 99%

Roles of SIRT3 in heart failure: from bench to bedside

Liu

Song

et al. 2016

J. Zhejiang Univ. Sci. B

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Heart failure (HF) represents the most common endpoint of most cardiovascular diseases (CVDs) which are the leading causes of death around the world. Despite the advances in treating CVDs, the prevalence of HF continues to increase. It is believed that better results of prognosis are obtained from prevention rather than additional treatment for HF. Therefore, it is reasonable to prevent the development of CVDs or other complications to HF. Most types of HF are attributed to contractile dysfunction, cardiac hypertrophy or remodeling, and ischemic injuries. SIRT3 is a mitochondrial nicotinamide adenine dinucleotide (NAD + )-dependent deacetylase whose substrates vary from metabolic biogenesis-associated proteins to stress-responsive proteins. In recent years, a number of studies have highlighted the cardio-protective role of SIRT3 and, as such, efforts have been made to induce over-expression or increased activity of this protein. In this review, we provide an overview of the roles of SIRT3 in cardiac hypertrophy induced by pressure overload or agonists and cardiomyocytes ischemic injuries. Moreover, we will introduce the application of SIRT3 agonists in the prevention of cardiac hypertrophy and ischemia reperfusion injury.

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Section: Epidemiology and Pathophysiology Of Hfmentioning

confidence: 99%

Roles of SIRT3 in heart failure: from bench to bedside

Liu

Song

et al. 2016

J. Zhejiang Univ. Sci. B

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“…Dilated and hypertrophic myopathies are the most common forms of cardiomyopathy. Both can be acquired or inherited [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

Absence of synemin causes hypertrophy in murine heart

García‐Pelagio

Chen

Bloch

2016

AIP Conference Proceedings

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Abstract. Heart disease is the most frequent cause of death in the world and becomes more common with aging. Cardiomyopathies have been linked to changes in structural proteins, including intermediate filament (IF). IFs associate with the contractile machinery and costameres of striated muscle and with the intercalated disks in the heart. Synemin is a large IF protein that mediates the association of desmin with Z-disks and stabilizes intercalated disks. It acts as an A-kinase anchoring protein (AKAP). We used echocardiography, and immunofluorescence labeling to obtain the results. Here, we report that synemin-null (synm -/-) cardiac muscle shows left ventricular remodeling, contractile dysfunction, hypertrophy, and an increment of total body weight suggesting a mixed cardiomyopathy (dilated and hypertrophic) with a profound dilated phenotype. Data suggest that synemin plays an important regulatory role in the heart and that the consequences of its absence are profound.

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“…Several thorough reviews on the genetic basis of different forms of cardiomyopathy have been published [1][2][3], including one last year in this journal [4]. As such, this article focuses on the application of genetics to the evaluation and management of heart failure in a clinical practice.…”

Section: Introductionmentioning

confidence: 99%

Use of Genetics in the Clinical Evaluation and Management of Heart Failure

Judge

Rouf

2010

Curr Treat Options Cardio Med

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Inherited forms of cardiomyopathy are common causes of heart failure. Applications of genetics in the evaluation and management of heart failure include the determination of inheritance patterns within families with cardiomyopathy, the evaluation of affected patients for syndromic features, the determination of people within families who are at risk of heart failure, and the identification of responsible gene mutations. Family planning may also be assisted by determination of a clear mutation that predisposes to heart failure. Genetic counseling is critical, and it should accompany the use of genetic testing in cardiovascular diseases. With the rapid pace of growth in technology that is used to determine DNA sequence, costs have declined and clinical application of genetic testing has expanded. This is particularly relevant for heart failure, because each of the familial forms of cardiomyopathy may be caused by a mutation in many different genes. Most families share a unique gene mutation, and appropriate interpretation of novel DNA variants is essential for proper use. The evaluation of risk of arrhythmia in familial forms of heart failure may benefit from genetic testing, as mutations in the genes encoding lamin A/C, desmin, and cardiac troponin T are associated with increased risk of sudden cardiac death. Because of its complexity and the rapid rate of change in available genetic testing options, the genetic evaluation of heart failure is best suited to tertiary referral centers with specific expertise in this area.

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Genetic causes of human heart failure

Cited by 227 publications

References 98 publications

Roles of SIRT3 in heart failure: from bench to bedside

Roles of SIRT3 in heart failure: from bench to bedside

Absence of synemin causes hypertrophy in murine heart

Use of Genetics in the Clinical Evaluation and Management of Heart Failure

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