Literature DB >> 30178098

[Inherited heart diseases and storage diseases with cardiac involvement].

Frauke S Czepluch1, Gerd Hasenfuß2.   

Abstract

Rare diseases mostly have a genetic cause. Many rare cardiovascular diseases also have a genetic cause. For target-oriented cardiogenetic diagnostics, expert knowledge in human genetics as well as in clinical cardiology is needed. In recent years, the genetic cause of a number of heart diseases have been, at least in part, elucidated. Especially, certain arrhythmias and cardiomyopathy forms have a monogenetic cause. An early genetic diagnosis means that patients can be treated more effectively. Rare storage diseases also usually have a genetic cause and can manifest themselves in the heart; prominent examples are Fabry disease and amyloidosis. As patients with Fabry disease or amyloidosis suffer from a diverse and variable symptomatology, the correct diagnosis is often difficult.

Entities:  

Keywords:  Amyloidosis; Cardiogenetics; Cardiomyopathies; Fabry disease; Rare diseases

Mesh:

Year:  2018        PMID: 30178098     DOI: 10.1007/s00108-018-0485-3

Source DB:  PubMed          Journal:  Internist (Berl)        ISSN: 0020-9554            Impact factor:   0.743


  20 in total

1.  Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade.

Authors:  Christine E Bulawa; Stephen Connelly; Michael Devit; Lan Wang; Charlotte Weigel; James A Fleming; Jeff Packman; Evan T Powers; R Luke Wiseman; Theodore R Foss; Ian A Wilson; Jeffery W Kelly; Richard Labaudinière
Journal:  Proc Natl Acad Sci U S A       Date:  2012-05-29       Impact factor: 11.205

Review 2.  Brugada syndrome: Diagnosis, risk stratification and management.

Authors:  Jean-Baptiste Gourraud; Julien Barc; Aurélie Thollet; Hervé Le Marec; Vincent Probst
Journal:  Arch Cardiovasc Dis       Date:  2017-01-27       Impact factor: 2.340

3.  Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar.

Authors:  Jaya Punetha; Eric P Hoffman
Journal:  Circ Cardiovasc Genet       Date:  2013-07-14

Review 4.  Fabry disease and the heart.

Authors:  Nora Seydelmann; Christoph Wanner; Stefan Störk; Georg Ertl; Frank Weidemann
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2014-10-16       Impact factor: 4.690

5.  Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

Authors:  Dominique P Germain; Derralynn A Hughes; Kathleen Nicholls; Daniel G Bichet; Roberto Giugliani; William R Wilcox; Claudio Feliciani; Suma P Shankar; Fatih Ezgu; Hernan Amartino; Drago Bratkovic; Ulla Feldt-Rasmussen; Khan Nedd; Usama Sharaf El Din; Charles M Lourenco; Maryam Banikazemi; Joel Charrow; Majed Dasouki; David Finegold; Pilar Giraldo; Ozlem Goker-Alpan; Nicola Longo; C Ronald Scott; Roser Torra; Ahmad Tuffaha; Ana Jovanovic; Stephen Waldek; Seymour Packman; Elizabeth Ludington; Christopher Viereck; John Kirk; Julie Yu; Elfrida R Benjamin; Franklin Johnson; David J Lockhart; Nina Skuban; Jeff Castelli; Jay Barth; Carrolee Barlow; Raphael Schiffmann
Journal:  N Engl J Med       Date:  2016-08-11       Impact factor: 91.245

6.  Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases.

Authors:  Perry Elliott; Bert Andersson; Eloisa Arbustini; Zofia Bilinska; Franco Cecchi; Philippe Charron; Olivier Dubourg; Uwe Kühl; Bernhard Maisch; William J McKenna; Lorenzo Monserrat; Sabine Pankuweit; Claudio Rapezzi; Petar Seferovic; Luigi Tavazzi; Andre Keren
Journal:  Eur Heart J       Date:  2007-10-04       Impact factor: 29.983

Review 7.  Fabry disease.

Authors:  Dominique P Germain
Journal:  Orphanet J Rare Dis       Date:  2010-11-22       Impact factor: 4.123

Review 8.  Cardiomyopathy, familial dilated.

Authors:  Matthew R G Taylor; Elisa Carniel; Luisa Mestroni
Journal:  Orphanet J Rare Dis       Date:  2006-07-13       Impact factor: 4.123

9.  Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.

Authors:  Marieke Biegstraaten; Reynir Arngrímsson; Frederic Barbey; Lut Boks; Franco Cecchi; Patrick B Deegan; Ulla Feldt-Rasmussen; Tarekegn Geberhiwot; Dominique P Germain; Chris Hendriksz; Derralynn A Hughes; Ilkka Kantola; Nesrin Karabul; Christine Lavery; Gabor E Linthorst; Atul Mehta; Erica van de Mheen; João P Oliveira; Rossella Parini; Uma Ramaswami; Michael Rudnicki; Andreas Serra; Claudia Sommer; Gere Sunder-Plassmann; Einar Svarstad; Annelies Sweeb; Wim Terryn; Anna Tylki-Szymanska; Camilla Tøndel; Bojan Vujkovac; Frank Weidemann; Frits A Wijburg; Peter Woolfson; Carla E M Hollak
Journal:  Orphanet J Rare Dis       Date:  2015-03-27       Impact factor: 4.123

Review 10.  Genetic cardiomyopathies causing heart failure.

Authors:  Thomas J Cahill; Houman Ashrafian; Hugh Watkins
Journal:  Circ Res       Date:  2013-08-30       Impact factor: 17.367

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