Literature DB >> 29525649

Genetic Infiltrative Cardiomyopathies.

Mary E Sweet1, Luisa Mestroni1, Matthew R G Taylor2.   

Abstract

Infiltrative cardiomyopathies are characterized by abnormal accumulation or deposition of substances in cardiac tissue leading to cardiac dysfunction. These can be inherited, resulting from mutations in specific genes, which engender a diverse array of extracardiac features but overlapping cardiac phenotypes. This article provides an overview of each inherited infiltrative cardiomyopathy, describing the causative genes, the pathologic mechanisms involved, the resulting cardiac manifestations, and the therapies currently offered or being developed.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Amyloidosis; Cardiac oxalosis; Danon disease; Fabry disease; Friedreich ataxia; Hemochromatosis; Mucopolysaccharidosis; PRKAG2 syndrome

Mesh：

Substances：

Year:  2018        PMID： 29525649      PMCID： PMC5894511          DOI： 10.1016/j.hfc.2017.12.003

Source DB:  PubMed          Journal:  Heart Fail Clin        ISSN： 1551-7136            Impact factor:   3.179


  100 in total

Review 1.  Iron overload cardiomyopathy in clinical practice.

Authors:  Dimitrios T Kremastinos; Dimitrios Farmakis
Journal:  Circulation       Date:  2011-11-15       Impact factor: 29.690

2.  Fabry Disease: A Rare Condition Emerging From the Darkness.

Authors:  Perry M Elliott
Journal:  Circ Cardiovasc Genet       Date:  2017-08

3.  Identification of a gene responsible for familial Wolff-Parkinson-White syndrome.

Authors:  M H Gollob; M S Green; A S Tang; T Gollob; A Karibe; A S Ali Hassan ; F Ahmad; R Lozado; G Shah; L Fananapazir; L L Bachinski; R Roberts; A S Hassan
Journal:  N Engl J Med       Date:  2001-06-14       Impact factor: 91.245

4.  Lysosomal glycogen storage disease with normal acid maltase.

Authors:  M J Danon; S J Oh; S DiMauro; J R Manaligod; A Eastwood; S Naidu; L H Schliselfeld
Journal:  Neurology       Date:  1981-01       Impact factor: 9.910

5.  Safety and efficacy of RNAi therapy for transthyretin amyloidosis.

Authors:  Teresa Coelho; David Adams; Ana Silva; Pierre Lozeron; Philip N Hawkins; Timothy Mant; Javier Perez; Joseph Chiesa; Steve Warrington; Elizabeth Tranter; Malathy Munisamy; Rick Falzone; Jamie Harrop; Jeffrey Cehelsky; Brian R Bettencourt; Mary Geissler; James S Butler; Alfica Sehgal; Rachel E Meyers; Qingmin Chen; Todd Borland; Renta M Hutabarat; Valerie A Clausen; Rene Alvarez; Kevin Fitzgerald; Christina Gamba-Vitalo; Saraswathy V Nochur; Akshay K Vaishnaw; Dinah W Y Sah; Jared A Gollob; Ole B Suhr
Journal:  N Engl J Med       Date:  2013-08-29       Impact factor: 91.245

Review 6.  Heart failure with mitral valve regurgitation due to primary hyperoxaluria type 1: case report with review of the literature.

Authors:  Luc Van Driessche; Annemieke Dhondt; Johan De Sutter
Journal:  Acta Cardiol       Date:  2007-04       Impact factor: 1.718

7.  Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment.

Authors:  Frank Weidemann; Markus Niemann; Frank Breunig; Sebastian Herrmann; Meinrad Beer; Stefan Störk; Wolfram Voelker; Georg Ertl; Christoph Wanner; Jörg Strotmann
Journal:  Circulation       Date:  2009-01-19       Impact factor: 29.690

8.  Natural history of Danon disease.

Authors:  Dana Boucek; Jean Jirikowic; Matthew Taylor
Journal:  Genet Med       Date:  2011-06       Impact factor: 8.822

9.  Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.

Authors:  Antonella Roetto; George Papanikolaou; Marianna Politou; Federica Alberti; Domenico Girelli; John Christakis; Dimitris Loukopoulos; Clara Camaschella
Journal:  Nat Genet       Date:  2002-12-09       Impact factor: 38.330

10.  Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications.

Authors:  F Weidemann; M Niemann; S Störk; F Breunig; M Beer; C Sommer; S Herrmann; G Ertl; C Wanner
Journal:  J Intern Med       Date:  2013-05-06       Impact factor: 8.989
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  2 in total

1.  Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature.

Authors:  Francesca Miselli; Alice Brambilla; Giovanni Battista Calabri; Silvia Favilli; Maria Chiara Sanvito; Luca Ragni; Francesco Torcetta; Katia Rossi; Maria Alice Donati; Elena Procopio
Journal:  Mol Genet Metab Rep       Date:  2021-01-29

Review 2.  Pre-operative Considerations in Adult Mucopolysaccharidosis Patients Planned for Cardiac Intervention.

Authors:  Benjamin Cross; Karolina M Stepien; Chaitanya Gadepalli; Ahmed Kharabish; Peter Woolfson; Govind Tol; Petra Jenkins
Journal:  Front Cardiovasc Med       Date:  2022-04-04
  2 in total

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