Arrhythmogenic right-ventricular dysplasia/cardiomyopathy

Calkins, Hugh

doi:10.1097/01.hco.0000198984.70884.4d

Cited by 66 publications

(32 citation statements)

References 37 publications

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“…This special function-driven selection over a long period of time is also seen, for example, from the fact that many mammalian gene sequences encoding major functional proteins of the mono-or dinucleate cardiomyocytes are similar to but diversified from those encoding corresponding proteins in the highly contractile and sarcomeric cells of skeletal muscles (see Vandekerckhove and Weber 1979;2006). Recently, the importance of gene selection and conservation in cardiac development and evolution has also been seen in the assembly of the architectural elements counteracting the rhythmic contractions of cardiomyocytes, i.e.…”

Section: Introductionmentioning

confidence: 98%

Cordial connections: molecular ensembles and structures of adhering junctions connecting interstitial cells of cardiac valves in situ and in cell culture

et al. 2009

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Remarkable efforts have recently been made in the tissue engineering of heart valves to improve the results of valve transplantations and replacements, including the design of artificial valves. However, knowledge of the cell and molecular biology of valves and, specifically, of valvular interstitial cells (VICs) remains limited. Therefore, our aim has been to determine and localize the molecules forming the adhering junctions (AJs) that connect VICs in situ and in cell culture. Using biochemical and immunolocalization methods at the light- and electron-microscopic levels, we have identified, in man, cow, sheep and rat, the components of VIC-connecting AJs in situ and in cell culture. These AJs contain, in addition to the transmembrane glycoproteins N-cadherin and cadherin-11, the typical plaque proteins alpha- and beta-catenin as well as plakoglobin and p120, together with minor amounts of protein p0071, i.e. a total of five plaque proteins of the armadillo family. While we can exclude the occurrence of desmogleins, desmocollins and desmoplakin, we have noted with surprise that AJs of VICs in cell cultures, but not those growing in the valve tissue, contain substantial amounts of the desmosomal plaque protein, plakophilin-2. Clusters of AJs occur not only on the main VIC cell bodies but are also found widely dispersed on their long filopodia thus forming, in the tissue, a meshwork that, together with filopodial attachments to paracrystalline collagen fiber bundles, establishes a three-dimensional suprastructure, the role of which is discussed with respect to valve formation, regeneration and function.

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Section: Introductionmentioning

confidence: 98%

Cordial connections: molecular ensembles and structures of adhering junctions connecting interstitial cells of cardiac valves in situ and in cell culture

et al. 2009

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“…1,2 The clinical presentation of ARVC/D is highly variable, ranging from asymptomatic to sudden cardiac death (SCD) and/or heart failure, even at a relatively young age. 3,4 The clinical diagnosis of ARVC/D is based upon criteria originally proposed by an international Task Force in 1994; 5 these have recently been modified to improve diagnostic sensitivity and maintain diagnostic specificity. 6 The modified Task Force Criteria (TFC) include quantitative parameters for the imaging studies and tissue characterisation, revised ECG criteria, and genetic status.…”

Section: Netherlands Heart Journal Volume 18 Number 12 December 2010mentioning

confidence: 99%

Recurrent and founder mutations in the Netherlands

et al. 2010

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“…The resulting disruption of normal myocardial architecture in ARVD/C patients can result in ventricular tachyarrhythmias, presenting as palpitations or syncope and sudden cardiac death (SCD) at a relatively young age [Thiene et al, 1988;Marcus and Fontaine, 1995;Calkins, 2006]. The clinical diagnosis of ARVD/C is based upon criteria proposed by an international task force in 1994 [McKenna et al, 1994].…”

Section: Introductionmentioning

confidence: 99%

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

Zwaag¹,

Jongbloed²,

Berg³

et al. 2009

Hum. Mutat.

108

100

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Arrhythmogenic right ventricular dysplasia/ cardiomyopathy (ARVD/C) is a hereditary cardiomyopathy characterized by fibrofatty replacement of cardiomyocytes, ventricular tachyarrhythmias and sudden death. ARVD/C is mainly caused by mutations in genes encoding desmosomal proteins. However, the pathogenicity of variants is not always clear. Therefore, we created an online database (www.arvcdatabase.info), providing information on variants in ARVD/C-associated genes. We searched the literature using ARVD/C and its underlying genes as search terms. From the selected papers and our unpublished data, we collected details on the type of mutation and information provided at the protein level. A ''details page'' contains clinical data and references. To aid the interpretation of missense mutations, we provide data from in silico prediction methods. In May 2009 the database contained 481 variants in eight genes. A total of 144 variants are considered pathogenic, 73 are unknown/unclassified, and 264 have no known pathogenicity. The database was converted into the Leiden Open Variation Database (LOVD) format, a gene-centered collection of DNA variations. The ARVD/ C database will be useful for both researchers and clinicians. It can be searched to determine if variants have been published and whether they are considered pathogenic. External users are invited to add information to improve the quantity and quality of the data entered.

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Arrhythmogenic right-ventricular dysplasia/cardiomyopathy

Abstract: Arrhythmogenic right-ventricular dysplasia is a rare disease. Recent new findings concerning the diagnosis and management of these patients should have direct implications regarding the evaluation and management of patients with this rare, but potentially life-threatening, disorder.

Cited by 66 publications

References 37 publications

Cordial connections: molecular ensembles and structures of adhering junctions connecting interstitial cells of cardiac valves in situ and in cell culture

Cordial connections: molecular ensembles and structures of adhering junctions connecting interstitial cells of cardiac valves in situ and in cell culture

Recurrent and founder mutations in the Netherlands

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

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