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  • Cardiogenetics is published by MDPI from Volume 10 Issue 2 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.

Cardiogenetics, Volume 1, Issue 1

July 2011 - 14 articles

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Articles (14)

  • Brief Report
  • Open Access
1 Citations
1 Views
4 Pages

DNA Variation in myoMIRs of the 1, 133, and 208 Families in Hypertrophic Cardiomyopathy

  • María Palacín,
  • Eliecer Coto,
  • Julián R. Reguero,
  • María Martín,
  • César Morís,
  • Belén Alonso,
  • Marta Díaz,
  • Ana I. Corao and
  • Victoria Alvarez

MicroRNAs (miRNAs) are small RNAs that bind to mRNAs and regulate gene expression. MyoMirs are miRNAs implicated in cardiogenesis. Some MyoMirs have been found deregulated in hearts from patients with left ventricular hypertrophy (LVH). DNA variants...

  • Article
  • Open Access
7 Citations
1 Views
5 Pages

LQTS-Associated Mutation A257G in α1-Syntrophin Interacts with the Intragenic Variant P74L to Modify Its Biophysical Phenotype

  • Jianding Cheng,
  • David W. Van Norstrand,
  • Argelia Medeiros-Domingo,
  • David J. Tester,
  • Carmen R. Valdivia,
  • Bi-Hua Tan,
  • Matteo Vatta,
  • Jonathan C. Makielski and
  • Michael J. Ackerman

The SNTA1-encoded α1-syntrophin (SNTA1) missense mutation, p.A257G, causes long QT syndrome (LQTS) by pathogenic accentuation of Nav1.5’s sodium current (INa). Subsequently, we found p.A257G in combination with the SNTA1 polymorphism, p.P74L in 4 vic...

  • Case Report
  • Open Access
12 Citations
1 Views
4 Pages

Familial Dilated Cardiomyopathy Associated with Congenital Defects in the Setting of a Novel VCL Mutation (Lys815Arg) in Conjunction with a Known MYPBC3 Variant

  • Quinn S. Wells,
  • Natalie L. Ausborn,
  • Birgit H. Funke,
  • Jean P. Pfotenhauer,
  • Joseph L. Fredi,
  • Samantha Baxter,
  • Thomas G. DiSalvo and
  • Charles C. Hong

Idiopathic dilated cardiomyopathy (DCM) is a primary myocardial disorder characterized by ventricular chamber enlargement and systolic dysfunction. Twenty to fifty percent of idiopathic DCM cases are thought to have a genetic cause. Of more than 30 g...

  • Review
  • Open Access
1 Citations
1 Views
8 Pages

Genetics of Cardiomyopathies in Children

  • Matteo Vatta and
  • Jeffrey A. Towbin

Cardiomyopathies are diseases of the heart muscle leading to heart failure and/or an increased risk of arrhythmogenic sudden cardiac death. These disorders represent a major cause of morbidity and mortality in children. In childhood forms of cardiomy...

  • Article
  • Open Access
6 Citations
1 Views
6 Pages

Atrioventricular Canal Defect and Associated Genetic Disorders: New Insights into Polydactyly Syndromes

  • M. Cristina Digilio,
  • Paolo Versacci,
  • Francesca Lepri,
  • Anwar Baban,
  • Bruno Dallapiccola and
  • Bruno Marino

Atrioventricular canal defect (AVCD) is a common congenital heart defect (CHD), representing 7.4% of all cardiac malformations, considered secondary to an extracellular matrix anomaly. The AVCD is associated with extracardiac defects in about 75% of...

  • Letter
  • Open Access
1 Views
2 Pages

22q11.2 Deletion (DiGeorge) Syndrome: A Mother’s Open Letter

  • Antonio Baldini,
  • Maria Cristina Digilio and
  • Bruno Marino

Dear E.G., this is an open letter on 22q11.2 deletion syndrome (DiGeorge syndrome). You are the mother of a beautiful 3 year old child. And you are one of the most active members of Aidel22, the Italian Association of 22q deletion syndrome patients a...

  • Review
  • Open Access
9 Citations
1 Views
7 Pages

The Interpretation of Genetic Tests in Inherited Cardiovascular Diseases

  • Lorenzo Monserrat,
  • Andrea Mazzanti,
  • Martín Ortiz-Genga,
  • Roberto Barriales-Villa,
  • Diego Garcia-Giustiniani and
  • Juan Ramon Gimeno-Blanes

The inherited cardiovascular diseases, including cardiomyopathies, channelopaties and inherited diseases of the aorta are heterogeneous conditions with highly variable morphologic and functional features, clinical presentation, evolution and prognosi...

  • Article
  • Open Access
5 Citations
1 Views
7 Pages

Matrix Metalloproteinase 9 Polymorphism and Outcome after Myocardial Infarction

  • Sophie Rodius,
  • Guillermo Mulliert,
  • Francisco Azuaje,
  • Yvan Devaux and
  • Daniel R. Wagner

Matrix metalloproteinase 9 (MMP9) is functionally implicated in the process of infarct healing. Several genetic variation of the MMP9 gene have been described, among which the MMP9 Arg668Gln polymorphism. In the present study, we assessed whether thi...

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Cardiogenetics - ISSN 2035-8148Creative Common CC BY license