Journal ArticleDOI
Clinical usefulness of tissue Doppler imaging in predicting preclinical Fabry cardiomyopathy
Rocío Toro,Leopoldo Pérez-Isla,Griselda Doxastaquis,Miguel Angel Barba,Alberto Rivera Gallego,Guillem Pintos,Francisco-Javier Barbados,Alipio Mangas,José Luis Zamorano +8 more
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TLDR
Myocardial contraction and relaxation evaluation confirms that TDI is a reliable method for early identification of preclinical FC, even before FC patients develop LVH.About:
This article is published in International Journal of Cardiology.The article was published on 2009-02-06. It has received 51 citations till now. The article focuses on the topics: Fabry disease & Isovolumic relaxation time.read more
Citations
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Journal ArticleDOI
The genetics of dilated cardiomyopathy
TL;DR: Genetic testing is highly useful in the care of patients and families, as it guides diagnosis, influences care and aids in prognosis, however, the large amount of benign human genetic variation may complicate genetic results and often requires a skilled team to accurately interpret the findings.
Journal ArticleDOI
Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.
Bouwien E. Smid,L. van der Tol,Franco Cecchi,Perry M. Elliott,Derralynn Hughes,Gabor E. Linthorst,Janneke Timmermans,Frank Weidemann,Michael West,Marieke Biegstraaten,R. H. Lekanne Deprez,Sandrine Florquin,Pieter G. Postema,Benedetta Tomberli,A.C. van der Wal,M.A. van den Bergh Weerman,Carla E. M. Hollak +16 more
TL;DR: A diagnostic algorithm for adults with LVH (maximal wall thickness (MWT) of >12 mm), GLA GVUS and an uncertain diagnosis of FD is developed and a Delphi method was used to reach a consensus between FD experts.
Journal ArticleDOI
Effects of enzyme replacement therapy in Fabry disease—A comprehensive review of the medical literature
Olivier Lidove,Michael West,Guillem Pintos-Morell,Ricardo Reisin,Kathy Nicholls,Luis E. Figuera,Rossella Parini,Luiz R Carvalho,Christoph Kampmann,Gregory M. Pastores,Atul Mehta +10 more
TL;DR: Investigations of early initiation of enzyme replacement therapy to determine the optimal time to start treatment to prevent irreversible organ damage and the value of adjunctive and supportive therapies should also be rigorously analyzed.
Journal ArticleDOI
An expert consensus document on the management of cardiovascular manifestations of Fabry disease
Aleš Linhart,Dominique P. Germain,Iacopo Olivotto,Mohammed M Akhtar,Aris Anastasakis,Derralynn Hughes,Mehdi Namdar,Maurizio Pieroni,Albert Hagège,Albert Hagège,Franco Cecchi,Juan R. Gimeno,Giuseppe Limongelli,Perry M. Elliott +13 more
TL;DR: The cardiac management of FD requires specific measures including enzyme replacement therapy or small pharmacological chaperones in patients carrying amenable pathogenic GLA gene variants and more general management of cardiac symptoms and complications.
Journal ArticleDOI
Multimodality imaging in restrictive cardiomyopathies: an EACVI expert consensus document: In collaboration with the 'Working Group on myocardial and pericardial diseases' of the European Society of Cardiology Endorsed by the Indian Academy of Echocardiography
Gilbert Habib,Chiara Bucciarelli-Ducci,Alida L.P. Caforio,Nuno Cardim,Philippe Charron,Bernard Cosyns,Aure ' Lie Dehaene,Geneviève Derumeaux,Erwan Donal,Marc R. Dweck,Marc R. Dweck,Thor Edvardsen,Paola Anna Erba,Laura Ernande,Oliver Gaemperli,Maurizio Galderisi,Julia Grapsa,Alexis Jacquier,Karin Klingel,Patrizio Lancellotti,Danilo Neglia,Alessia Pepe,Pasquale Perrone-Filardi,Steffen E. Petersen,Sven Plein,Bogdan A. Popescu,Patricia Reant,L. Elif Sade,Erwan Salaun,Riemer H. J. A. Slart,Christophe Tribouilloy,José Luis Zamorano +31 more
TL;DR: This EACVI consensus document provides comprehensive information for the appropriateness of all non-invasive imaging techniques for the diagnosis, prognostic evaluation, and management of patients with RCM.
References
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A simple salting out procedure for extracting DNA from human nucleated cells
TL;DR: A rapid, safe and inexpensive method was developed to simplify the deprotein-ization procedure that yielded quantities comparable to those obtained from phenol-chloroform extractions, rendering the entire process of RFLP analysis free of toxic materials.
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The Metabolic and Molecular Bases of Inherited Disease
TL;DR: In this paper, the authors present a list of disorders of MITOCHONDRIAL FUNCTION, including the following: DISORDERS OF MIOCHONDRIC FERTILITY XIX, XVI, XIX.
Journal ArticleDOI
Recommendations for quantitation of the left ventricle by two-dimensional echocardiography. American Society of Echocardiography Committee on Standards, Subcommittee on Quantitation of Two-Dimensional Echocardiograms.
Nelson B. Schiller,P. M. Shah,Michael H. Crawford,Anthony N. DeMaria,Richard B. Devereux,Harvey Feigenbaum,H. Gutgesell,Nathaniel Reichek,David J. Sahn,Ingela Schnittger +9 more
TL;DR: It is the opinion that current technology justifies the clinical use of the quantitative two-dimensional methods described in this article and the routine reporting of left ventricular ejection fraction, diastolic volume, mass, and wall motion score.
Journal ArticleDOI
Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease.
Christine M. Eng,Nathalie Guffon,William R. Wilcox,Dominique P. Germain,Philip J. Lee,S. Waldek,Louis R. Caplan,Gabor E. Linthorst,Robert J. Desnick +8 more
TL;DR: Recombinant alpha-galactosidase A replacement therapy cleared microvascular endothelial deposits of globotriaosylceramide from the kidneys, heart, and skin in patients with Fabry's disease, reversing the pathogenesis of the chief clinical manifestations of this disease.