Fabry Disease and the Heart: A Comprehensive Review

Screening of Fabry Disease in Patients with Chest Pain Without Obstructive Coronary Artery Disease

(2021) Aitor Hernández-Hernández et al.   Journal of Cardiovascular Translational Research

Myocardial Edema, Myocyte Injury, and Disease Severity in Fabry Disease

(2020) João B. Augusto et al.   Circulation-Cardiovascular Imaging

Mechanical dispersion in Fabry disease assessed with speckle tracking echocardiography

(2020) Tomas F. Cianciulli et al.   ECHOCARDIOGRAPHY-A JOURNAL OF CARDIOVASCULAR ULTRASOUND AND ALLIED TECHNIQUES

Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?

(2020) Olga Azevedo et al.   AMERICAN HEART JOURNAL

Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS)

(2020) Malte Lenders et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Left ventricular radial strain impairment precedes hypertrophy in Anderson–Fabry disease

(2020) Letizia Spinelli et al.   INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING

Characterization of Fabry Disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mapping

(2020) Patricia Réant et al.   INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING

The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago

(2020) Kung-Hao Liang et al.   JOURNAL OF HUMAN GENETICS

Prognostic significance of right ventricular hypertrophy and systolic function in Anderson–Fabry disease

(2020) Francesca Graziani et al.   ESC Heart Failure

An Expert Consensus Document on the Management of Cardiovascular Manifestations of Fabry Disease

(2020) Aleš Linhart et al.   EUROPEAN JOURNAL OF HEART FAILURE

Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data

(2020) Eleonora Riccio et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cardiac manifestations in patients with classical or cardiac subtype of Fabry disease

(2020) Wei-Ting Wang et al.   Journal of the Chinese Medical Association

Clinical Significance of Papillary Muscles on Left Ventricular Mass Quantification Using Cardiac Magnetic Resonance Imaging

(2020) Amna Al-Arnawoot et al.   JOURNAL OF THORACIC IMAGING

Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study

(2020) Ulla Feldt-Rasmussen et al.   MOLECULAR GENETICS AND METABOLISM

Association between Left Atrial Deformation and Brain Involvement in Patients with Anderson-Fabry Disease at Diagnosis

(2020) Roberta Esposito et al.   Journal of Clinical Medicine

Effects of Baseline Left Ventricular Hypertrophy and Decreased Renal Function on Cardiovascular and Renal Outcomes in Patients with Fabry Disease Treated with Agalsidase Alfa: A Fabry Outcome Survey Study

(2020) Sandro Feriozzi et al.   CLINICAL THERAPEUTICS

Does left ventricular function predict cardiac outcome in Anderson–Fabry disease?

(2020) Letizia Spinelli et al.   INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING

Fabry Disease Therapy: State-of-the-Art and Current Challenges

(2020) Olga Azevedo et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Evidence of evolution towards left midventricular obstruction in severe Anderson–Fabry cardiomyopathy

(2020) Francesca Graziani et al.   ESC Heart Failure

Basal Segmental Longitudinal Strain: A Marker of Subclinical Myocardial Involvement in Anderson-Fabry Disease

(2020) Matthew Zada et al.   JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY

Hybrid positron emission tomography-magnetic resonance imaging for assessing different stages of cardiac impairment in patients with Anderson–Fabry disease: AFFINITY study group

(2019) Massimo Imbriaco et al.   European Heart Journal-Cardiovascular Imaging

Fabry disease in cardiology practice: Literature review and expert point of view

(2019) Albert Hagège et al.   Archives of Cardiovascular Diseases

Predictors of Clinical Evolution in Prehypertrophic Fabry Disease

(2019) Antonia Camporeale et al.   Circulation-Cardiovascular Imaging

Massive Coronary Microvascular Dysfunction in Severe Anderson-Fabry Disease Cardiomyopathy

(2019) Francesca Graziani et al.   Circulation-Cardiovascular Imaging

Quantitative Myocardial Perfusion in Fabry Disease

(2019) Kristopher D. Knott et al.   Circulation-Cardiovascular Imaging

Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype

(2019) Olga Azevedo et al.   MOLECULAR GENETICS AND METABOLISM

Progress in the understanding and treatment of Fabry disease

(2019) James J. Miller et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

2019 ESC Guidelines for the diagnosis and management of chronic coronary syndromes

(2019) Juhani Knuuti et al.   EUROPEAN HEART JOURNAL

Study of indications for cardiac device implantation and utilisation in Fabry cardiomyopathy

(2019) Ravi Vijapurapu et al.   HEART

Severe Late-Onset Fabry Cardiomyopathy Unmasked by a Multimodality Imaging Approach

(2019) Ionela-Simona Visoiu et al.   Circulation-Cardiovascular Imaging

Multimodality Imaging Assessment of Fabry Disease

(2019) Albree Tower-Rader et al.   Circulation-Cardiovascular Imaging

Surgical septal myectomy for relief of dynamic obstruction in Anderson-Fabry Disease

(2019) Zahara Meghji et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Prevalence of Anderson-Fabry disease in a cohort with unexplained late gadolinium enhancement on cardiac MRI

(2019) Avalon Moonen et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Left Ventricular Hypertrophy and Late Gadolinium Enhancement at Cardiac MRI Are Associated with Adverse Cardiac Events in Fabry Disease

(2019) Kate Hanneman et al.   RADIOLOGY

Comparison of Cardiac Magnetic Resonance Imaging and Echocardiography in Assessment of Left Ventricular Hypertrophy in Fabry Disease

(2018) Hassan Hazari et al.   CANADIAN JOURNAL OF CARDIOLOGY

Cardiac Phenotype of Prehypertrophic Fabry Disease

(2018) Sabrina Nordin et al.   Circulation-Cardiovascular Imaging

Early Cardiac Involvement Affects Left Ventricular Longitudinal Function in Females Carrying α-Galactosidase A Mutation

(2018) Letizia Spinelli et al.   Circulation-Cardiovascular Imaging

Severe Bradyarrhythmia Linked to Left Atrial Dysfunction in Fabry disease - a Cross-Sectional Study

(2018) Lu Zhao Di et al.   CLINICAL CARDIOLOGY

Value of the CHA2DS2-VASc score and Fabry-specific score for predicting new-onset or recurrent stroke/TIA in Fabry disease patients without atrial fibrillation

(2018) Dan Liu et al.   Clinical Research in Cardiology

Treatment of hypertrophic cardiomyopathy caused by cardiospecific variants of Fabry disease with chaperone therapy

(2018) Jonas Müntze et al.   EUROPEAN HEART JOURNAL

Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease

(2018) Fahad J. Alharbi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Fabry Disease: prevalence of affected males and heterozygotes with pathogenicGLAmutations identified by screening renal, cardiac and stroke clinics, 1995–2017

(2018) Dana Doheny et al.   JOURNAL OF MEDICAL GENETICS

Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study

(2018) Maarten Arends et al.   JOURNAL OF MEDICAL GENETICS

Fabry disease revisited: Management and treatment recommendations for adult patients

(2018) Alberto Ortiz et al.   MOLECULAR GENETICS AND METABOLISM

Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation

(2018) L. Lavalle et al.   PLoS One

Proposed Stages of Myocardial Phenotype Development in Fabry Disease

(2018) Sabrina Nordin et al.   JACC-Cardiovascular Imaging

Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study

(2018) Dominique P. Germain et al.   Molecular Genetics & Genomic Medicine

Cardiopulmonary fitness assessment on maximal and submaximal exercise testing in patients with Fabry disease

(2018) Adam W. Powell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Immune‐Mediated Myocarditis in Fabry Disease Cardiomyopathy

(2018) Andrea Frustaci et al.   Journal of the American Heart Association

Acute Decompensated Heart Failure After Initiation of Amiodarone in a Patient With Anderson-Fabry Disease

(2018) Nowell M. Fine et al.   CANADIAN JOURNAL OF CARDIOLOGY

Unexpectedly High Prevalence of Coronary Spastic Angina in Patients With Anderson-Fabry Disease

(2018) Yuya Kitani et al.   CIRCULATION JOURNAL

Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year

(2018) Jonas Müntze et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Global longitudinal strain, myocardial storage and hypertrophy in Fabry disease

(2018) Ravi Vijapurapu et al.   HEART

Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment

(2018) S.J. van der Veen et al.   MOLECULAR GENETICS AND METABOLISM

Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction

(2018) Haran Yogasundaram et al.   Journal of the American Heart Association

Ventricular arrhythmia and sudden cardiac death in Fabry disease: a systematic review of risk factors in clinical practice

(2017) Shanat Baig et al.   EUROPACE

Cardiac sympathetic neuronal damage precedes myocardial fibrosis in patients with Anderson-Fabry disease

(2017) Massimo Imbriaco et al.   EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING

Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype

(2017) Beáta Csányi et al.   International Heart Journal

Evolution of cardiac pathology in classic Fabry disease: Progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophy‬‬‬‬‬‬‬‬

(2017) Andrea Frustaci et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey

(2017) Ting-Rong Hsu et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Impact of lysosomal storage disorders on biology of mesenchymal stem cells: Evidences from in vitro silencing of glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes

(2017) Tiziana Squillaro et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Right Ventricular Hypertrophy, Systolic Function, and Disease Severity in Anderson-Fabry Disease: An Echocardiographic Study

(2017) Francesca Graziani et al.   JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY

Fabry Disease in Families With Hypertrophic CardiomyopathyCLINICAL PERSPECTIVE

(2017) Berglind Adalsteinsdottir et al.   Circulation-Cardiovascular Genetics

α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry DiseaseCLINICAL PERSPECTIVE

(2017) Daniel Oder et al.   Circulation-Cardiovascular Genetics

Usefulness of an Implantable Loop Recorder to Detect Clinically Relevant Arrhythmias in Patients With Advanced Fabry Cardiomyopathy

(2016) Frank Weidemann et al.   AMERICAN JOURNAL OF CARDIOLOGY

Brain MR Imaging Findings of Cardiac-Type Fabry Disease with an IVS4+919G>A Mutation

(2016) H.-J. Lee et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

2016 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure

(2016) Piotr Ponikowski et al.   EUROPEAN HEART JOURNAL

Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases

(2016) Maria J. Ferraz et al.   FEBS LETTERS

Cardiac involvement in genotype-positive Fabry disease patients assessed by cardiovascular MR

(2016) Rebecca Kozor et al.   HEART

Relationship between aetiology and left ventricular systolic dysfunction in hypertrophic cardiomyopathy

(2016) Stefania Rosmini et al.   HEART

Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes

(2016) Ja Hye Kim et al.   JOURNAL OF HUMAN GENETICS

Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry

(2016) Alberto Ortiz et al.   JOURNAL OF MEDICAL GENETICS

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

(2016) Derralynn A Hughes et al.   JOURNAL OF MEDICAL GENETICS

Later Onset Fabry Disease, Cardiac Damage Progress in Silence

(2016) Ting-Rong Hsu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Cardiac Fabry Disease With Late Gadolinium Enhancement Is a Chronic Inflammatory Cardiomyopathy

(2016) Sabrina Nordin et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

(2016) Maarten Arends et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Cardiac device implantation in Fabry disease

(2016) Thomas Sené et al.   MEDICINE

Fabry in the older patient: Clinical consequences and possibilities for treatment

(2016) Olivier Lidove et al.   MOLECULAR GENETICS AND METABOLISM

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

(2016) Dominique P. Germain et al.   NEW ENGLAND JOURNAL OF MEDICINE

Reduced Right Ventricular Native Myocardial T1 in Anderson-Fabry Disease: Comparison to Pulmonary Hypertension and Healthy Controls

(2016) Joseph J. Pagano et al.   PLoS One

Interleukin-18 deteriorates Fabry cardiomyopathy and contributes to the development of left ventricular hypertrophy in Fabry patients with GLA IVS4+919 G>A mutation

(2016) Yueh Chien et al.   Oncotarget

High‐Sensitivity Troponin: A Clinical Blood Biomarker for Staging Cardiomyopathy in Fabry Disease

(2016) Nora Seydelmann et al.   Journal of the American Heart Association

Pathology and Function of Conduction Tissue in Fabry Disease Cardiomyopathy

(2015) Andrea Frustaci et al.   Circulation-Arrhythmia and Electrophysiology

Apical Left Ventricular Hypertrophy and Mid-Ventricular Obstruction in Fabry Disease

(2015) Tomás F. Cianciulli et al.   ECHOCARDIOGRAPHY-A JOURNAL OF CARDIOVASCULAR ULTRASOUND AND ALLIED TECHNIQUES

First experience of simultaneous PET/MRI for the early detection of cardiac involvement in patients with Anderson-Fabry disease

(2015) Carmela Nappi et al.   EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING

Clinical and genetic predictors of major cardiac events in patients with Anderson–Fabry Disease

(2015) Vimal Patel et al.   HEART

A patient with recurrent disabling atrial fibrillation and Fabry cardiomyopathy successfully treated with single ring pulmonary vein isolation

(2015) Pierre Qian et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

(2015) Dominique P Germain et al.   JOURNAL OF MEDICAL GENETICS

Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy

(2015) David G Warnock et al.   JOURNAL OF MEDICAL GENETICS

Serum-Mediated Inhibition of Enzyme Replacement Therapy in Fabry Disease

(2015) M. Lenders et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years’ treatment

(2015) Christoph Kampmann et al.   Orphanet Journal of Rare Diseases

Left Ventricular Geometry and Blood Pressure as Predictors of Adverse Progression of Fabry Cardiomyopathy

(2015) Johannes Krämer et al.   PLoS One

Relation of Burden of Myocardial Fibrosis to Malignant Ventricular Arrhythmias and Outcomes in Fabry Disease

(2014) Johannes Krämer et al.   AMERICAN JOURNAL OF CARDIOLOGY

Microvascular Angina as Prehypertrophic Presentation of Fabry Disease Cardiomyopathy

(2014) Andrea Frustaci et al.   CIRCULATION

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

(2014)   EUROPEAN HEART JOURNAL

Cardiovascular outcomes in Fabry disease are linked to severity of chronic kidney disease

(2014) Andrew S Talbot et al.   HEART

Global cardiac alterations detected by speckle-tracking echocardiography in Fabry disease: left ventricular, right ventricular, and left atrial dysfunction are common and linked to worse symptomatic status

(2014) Daniel A. Morris et al.   INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING

Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A)

(2014) Hao-Chuan Liu et al.   Orphanet Journal of Rare Diseases

Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset fabry mutation (IVS4 + 919G > A)

(2014) Ting-Rong Hsu et al.   Orphanet Journal of Rare Diseases

Globotriaosylceramide Induces Lysosomal Degradation of Endothelial K Ca 3.1 in Fabry Disease

(2013) Shinkyu Choi et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Identification and Assessment of Anderson-Fabry Disease by Cardiovascular Magnetic Resonance Noncontrast Myocardial T1 Mapping

(2013) Daniel M. Sado et al.   Circulation-Cardiovascular Imaging

Two-Dimensional Speckle Tracking Echocardiography for Early Detection of Myocardial Damage in Young Patients with Fabry Disease

(2013) María C. Saccheri et al.   ECHOCARDIOGRAPHY-A JOURNAL OF CARDIOVASCULAR ULTRASOUND AND ALLIED TECHNIQUES

Two-dimensional speckle tracking as a non-invasive tool for identification of myocardial fibrosis in Fabry disease

(2013) Johannes Krämer et al.   EUROPEAN HEART JOURNAL

Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry disease

(2013) Benedetta Tomberli et al.   EUROPEAN JOURNAL OF HEART FAILURE

Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry

(2013) Dominique P. Germain et al.   GENETICS IN MEDICINE

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

(2013) F. Weidemann et al.   JOURNAL OF INTERNAL MEDICINE

Left Atrial Enlargement and Reduced Atrial Compliance Occurs Early in Fabry Cardiomyopathy

(2013) Anita C. Boyd et al.   JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY

Systolic and Diastolic Function Assessment in Fabry Disease Patients Using Speckle-Tracking Imaging and Comparison with Conventional Echocardiographic Measurements

(2013) Miriam Shanks et al.   JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY

Fabry disease peripheral blood immune cells release inflammatory cytokines: Role of globotriaosylceramide

(2013) Pablo N. De Francesco et al.   MOLECULAR GENETICS AND METABOLISM

Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A)

(2013) Hsiang-Yu Lin et al.   BMJ Open

Role of Serum N-Terminal Pro-Brain Natriuretic Peptide Measurement in Diagnosis of Cardiac Involvement in Patients With Anderson-Fabry Disease

(2012) Caroline J. Coats et al.   AMERICAN JOURNAL OF CARDIOLOGY

Arrhythmias in Fabry Cardiomyopathy

(2012) Deepak Acharya et al.   CLINICAL CARDIOLOGY

Systolic Myocardial Mechanics in Patients with Anderson-Fabry Disease with and without Left Ventricular Hypertrophy and in Comparison to Nonobstructive Hypertrophic Cardiomyopathy

(2012) Christiane Gruner et al.   ECHOCARDIOGRAPHY-A JOURNAL OF CARDIOVASCULAR ULTRASOUND AND ALLIED TECHNIQUES

Cross-sectional baseline analysis of electrocardiography in a large cohort of patients with untreated Fabry disease

(2012) Markus Niemann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Enzyme replacement therapy improves cardiac features and severity of Fabry disease

(2012) Manish Motwani et al.   MOLECULAR GENETICS AND METABOLISM

Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry disease

(2011) C. O'Mahony et al.   EUROPACE

The endocardial binary appearance ('binary sign') is an unreliable marker for echocardiographic detection of Fabry disease in patients with left ventricular hypertrophy

(2011) G. Mundigler et al.   European Journal of Echocardiography

Exercise-Induced Left Ventricular Outflow Tract Obstruction in Symptomatic Patients With Anderson-Fabry Disease

(2011) Margherita Calcagnino et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Cardiovascular Events in Patients With Fabry Disease

(2011) Manesh R. Patel et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Tei Index in Fabry Disease

(2011) Markus Niemann et al.   JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY

Cystatin C and NT-proBNP as prognostic biomarkers in Fabry disease

(2011) Miguel-Ángel Torralba-Cabeza et al.   MOLECULAR GENETICS AND METABOLISM

Higher apoptotic state in Fabry disease peripheral blood mononuclear cells.

(2011) Pablo N. De Francesco et al.   MOLECULAR GENETICS AND METABOLISM

Response of women with Fabry disease to enzyme replacement therapy: Comparison with men, using data from FOS—the Fabry Outcome Survey

(2011) Derralynn A. Hughes et al.   MOLECULAR GENETICS AND METABOLISM

Differences in Fabry Cardiomyopathy Between Female and Male Patients

(2011) Markus Niemann et al.   JACC-Cardiovascular Imaging

PQ Interval in Patients With Fabry Disease

(2010) Mehdi Namdar et al.   AMERICAN JOURNAL OF CARDIOLOGY

Cardiovascular manifestations in Fabry's disease

(2010) Hitoshi Sakuraba et al.   CLINICAL GENETICS

Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and  -galactosidase A activity

(2010) J. C. Wu et al.   EUROPEAN HEART JOURNAL

The right ventricle in Fabry disease: natural history and impact of enzyme replacement therapy

(2010) M. Niemann et al.   HEART

Atrial biopsy evidence of Fabry disease causing lone atrial fibrillation

(2010) C. Chimenti et al.   HEART

Endocardial and epicardial substrates of ventricular tachycardia in a patient with Fabry disease

(2010) Haruhiko Higashi et al.   HEART RHYTHM

Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A)

(2010) Hsiang-Yu Lin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Fabry disease

(2010) Dominique P Germain   Orphanet Journal of Rare Diseases

Prominent Papillary Muscles in Fabry Disease: A Diagnostic Marker?

(2010) Markus Niemann et al.   ULTRASOUND IN MEDICINE AND BIOLOGY

A detailed pathologic examination of heart tissue from three older patients with Anderson–Fabry disease on enzyme replacement therapy

(2009) Mary N. Sheppard et al.   CARDIOVASCULAR PATHOLOGY

Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy

(2009) Frank Weidemann et al.   CIRCULATION

Cardiac Microvascular Pathology in Fabry Disease

(2009) Beth L. Thurberg et al.   CIRCULATION

Aortic remodelling in Fabry disease

(2009) F. Barbey et al.   EUROPEAN HEART JOURNAL

Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry

(2009) Stephen Waldek et al.   GENETICS IN MEDICINE

A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease

(2009) Catharina Whybra et al.   GENETICS IN MEDICINE

Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey

(2009) A Mehta et al.   JOURNAL OF MEDICAL GENETICS

Cardiac manifestations of Anderson-Fabry disease in children and adolescents

(2008) Christoph Kampmann et al.   ACTA PAEDIATRICA

Angina in Fabry Disease Reflects Coronary Small Vessel Disease

(2008) Cristina Chimenti et al.   Circulation-Heart Failure

Cardiac performance during exercise in patients with Fabry's disease

(2008) L. Spinelli et al.   EUROPEAN JOURNAL OF CLINICAL INVESTIGATION

Cardiovascular testing in Fabry disease: exercise capacity reduction, chronotropic incompetence and improved anaerobic threshold after enzyme replacement

(2008) T. Lobo et al.   INTERNAL MEDICINE JOURNAL

Onset and progression of the Anderson–Fabry disease related cardiomyopathy

(2008) Christoph Kampmann et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Terminal stage cardiac findings in patients with cardiac Fabry disease: An electrocardiographic, echocardiographic, and autopsy study

(2008) Toshihiro Takenaka et al.   Journal of Cardiology

Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells

(2008) Jin-Song Shen et al.   MOLECULAR GENETICS AND METABOLISM

A retrospective analysis of the potential impact of IgG antibodies to agalsidase β on efficacy during enzyme replacement therapy for Fabry disease

(2008) Bernard Bénichou et al.   MOLECULAR GENETICS AND METABOLISM

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

(2008) J. M. Aerts et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Reversibility of PRKAG2 Glycogen-Storage Cardiomyopathy and Electrophysiological Manifestations

(2007) Cordula M. Wolf et al.   CIRCULATION

Effects of enzyme replacement therapy on the cardiomyopathy of Anderson Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa

(2007) D A Hughes et al.   HEART