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Cardiogenetics

ISSN Print: 2035-8253

ISSN Online:

Website: http://www.cardiogenetics.it

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Molecular basis and clinical management of Pompe disease

Giancarlo Parenti,Giuseppe Di Iorio,Simone Sampaolo,Giuseppe Fiorentino

Anderson-Fabry, the histrionic disease: from genetics to clinical management

Franco Cecchi,Benedetta Tomberli,Amelia Morrone

Molecular basis, diagnosis and clinical management of mucopolysaccharidoses

Rossella Parini,Francesca Bertola,Pierluigi Russo

Diagnosis and management of lysosomal storage disorders. Three key words: early, multidisciplinary, and network

Generoso Andria,Giuseppe Limongelli

Molecular basis and clinical management of Gaucher disease

Maja Di Rocco,Andrea Loggini,Pierluigi Russo

Compound heterozygous SCN5A gene mutations in asymptomatic Brugada syndrome child

Elena Sommariva,Matteo Vatta,Yutao Xi,Simone Sala

Cardiac electrical system involvement in Alstr m syndrome: uncommon causes of dilated cardiomyopathies

Richard J. Czosek,Paula Goldenberg,Erin M. Miller,Robert Spicer

Novel SCN5A mutation associated with idiopathic ventricular fibrillation due to subclinical Brugada syndrome

Juan Jiménez-Jáimez,Miguel álvarez-López,Luis Tercedor-Sánchez,Pablo Santiago

The novel role of epigenetics in primary prevention of cardiovascular diseases

Claudio Napoli,Amelia Casamassimi,Vincenzo Grimaldi,Concetta Schiano

An unusual case of familial hypertrophic cardiomyopathy with left ventricular systolic dysfunction: a still unsolved diagnosis

Elena Biagini,Chiara Pazzi,Stefania Rosmini,Ornella Leone

Restrictive cardiomyopathy and hypertrophic cardiomyopathy overlap: the importance of the phenotype

Juan Pablo Kaski,Elena Biagini,Massimo Lorenzini,Claudio Rapezzi

Transcriptional regulation of cardiac genes balance pro- and anti-hypertrophic mechanisms in hypertrophic cardiomyopathy

Nina Genneb？ck,Gerhard Wikstr？m,Urban Hellman,Jane-Lise Samuel

Inherited cardiac disease

Philippe Charron

Idiopathic restrictive cardiomyopathy - perspectives from genetics studies. Is it time to redefine these disorders?

Ajay Bahl,Uma Nahar Saikia,Madhu Khullar

Combined use of in silico and in vitro splicing assays for interpretation of genomic variants of unknown significance in cardiomyopathies and channelopathies

Hervé Crehalet,Gilles Millat,Juliette Albuisson,Véronique Bonnet

A new clonal chromosomal aberration (47, XY, +21) in atrial myxoma from an elderly male patient

Ewa St？pień,Grzegorz Grudzień,Marek Andres,Ma？gorzata Jakóbczyk

Recent advances in cardiovascular research: systems biology

Raffaella D'Alessandro,Joseph Sepe

Update in cardiomyopathies and congestive heart failure

The Heart Hospital, London, UK and Monaldi Hospital, Naples, Italy

Targeted capture and massively parallel sequencing in pediatric cardiomyopathy: development of novel diagnostics

Muhammad Tariq,Thanh-Tam Le,Patrick Putnam,Steven Kindel

Phenotypic spectrum of mutations in cardiolaminopathies

Ali J. Marian

A new era in cardiogenetics

Giuseppe Limongelli

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

Genetics of cardiomyopathies in children

Matteo Vatta,Jeffrey A. Towbin

22q11.2 deletion (DiGeorge) syndrome: a mother’s open letter

Antonio Baldini,Maria Cristina Digilio,Bruno Marino

Sudden infant death syndrome and cardiac channelopathies: from mechanisms to prevention of avoidable tragedies

Roberto Insolia,Alice Ghidoni,Cinzia Dossena,Elisa Mastantuono

Catecholaminergic polymorphic ventricular tachycardia in 2012

Ineke Nederend,Christian van der Werf,Arthur A.M. Wilde

Short QT syndrome

Carla Giustetto,Chiara Scrocco,Daniela Giachino,Charles Antzelevitch

Matrix metalloproteinase 9 polymorphism and outcome after myocardial infarction

Sophie Rodius,Guillermo Mulliert,Francisco Azuaje,Yvan Devaux

Long QT syndrome: from genetic basis to treatment

Lia Crotti,Federica Dagradi,Peter J. Schwartz

Brugada syndrome

Rachel Bastiaenen,Elijah R. Behr

Time for education in cardiogenetics

Philippe Charron,Perry Elliott

Tafazzin gene mutations are uncommon causes of dilated cardiomyopathy in adults

Matthew Taylor,Dobromir Slavov,Ernesto Salcedo,Xiao Zhu

The interpretation of genetic tests in inherited cardiovascular diseases

Lorenzo Monserrat,Andrea Mazzanti,Martin Ortiz-Genga,Roberto Barriales-Villa

Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes

M. Cristina Digilio,Paolo Versacci,Francesca Lepri,Anwar Baban

A new understanding of endurance exercise

Joseph Sepe,Raffaella D'Alessandro

Preface

Lia Crotti

DNA variation in myoMIRs of the 1, 133, and 208 families in hypertrophic cardiomyopathy

María Palacín,Eliecer Coto,Julián R. Reguero,María Martín

Genetic testing for hypertrophic cardiomyopathy: ongoing voyage from exploration to clinical exploitation

Iacopo Olivotto,Heba Sh. Kassem,Francesca Girolami

Recent advances in the genetics of atrial fibrillation: from rare and common genetic variants to microRNA signaling

Moritz F. Sinner,Sebastian Clauss,Reza Wakili,Thomas Meitinger

Ion channels and beating heart: the players and the music

Lia Crotti,Giuseppe Limongelli,Charles Antzelevitch

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

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