Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement

One of the main causes of heart failure is cardiomyopathies. Among them, the most common is hypertrophic cardiomyopathy (HCM), characterized by thickening of the left ventricular muscle. This article focuses on HCM and other cardiomyopathies with myocardial hypertrophy, including Fabry disease, Pompe disease, and Danon disease. The genetics and pathogenesis of these diseases are described, as well as current and experimental treatment options, such as pharmacological intervention and the potential of gene therapies. Although genetic approaches are promising and have the potential to become the best treatments for these diseases, further research is needed to evaluate their efficacy and safety. This article describes current knowledge and advances in the treatment of the aforementioned cardiomyopathies.

[1]  B. Lewis,et al.  2023 ESC Guidelines for the management of cardiomyopathies. , 2023, European heart journal.

[2]  Daoquan Peng,et al.  Identification of a novel splicing‐altering LAMP2 variant in a Chinese family with Danon disease , 2023, ESC heart failure.

[3]  E. Brusse,et al.  Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study , 2023, Orphanet Journal of Rare Diseases.

[4]  Christopher A. Miller,et al.  Rationale and design of a randomised trial of trientine in patients with hypertrophic cardiomyopathy , 2023, Heart.

[5]  Y. Chien,et al.  Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks , 2023, JAMA neurology.

[6]  E. Boersma,et al.  Effects of enzyme replacement therapy on cardiac function in classic infantile Pompe disease. , 2023, International journal of cardiology.

[7]  Zheng Wen,et al.  Homology-directed repair of an MYBPC3 gene mutation in a rat model of hypertrophic cardiomyopathy , 2023, Gene Therapy.

[8]  B. Maranda,et al.  Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots , 2023, International journal of molecular sciences.

[9]  E. Olson,et al.  Base editing correction of hypertrophic cardiomyopathy in human cardiomyocytes and humanized mice , 2023, Nature Medicine.

[10]  D. Bali,et al.  Phase I Study of Liver Depot Gene Therapy in Late-onset Pompe Disease. , 2023, Molecular therapy : the journal of the American Society of Gene Therapy.

[11]  F. Pieruzzi,et al.  Effect of Migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study , 2023, Journal of Medical Genetics.

[12]  M. Wheeler,et al.  Effects of Mavacamten on Measures of Cardiopulmonary Exercise Testing Beyond Peak Oxygen Consumption , 2023, JAMA cardiology.

[13]  Rose M. Sheridan,et al.  Preclinical evaluation of FLT190, a liver-directed AAV gene therapy for Fabry disease , 2023, Gene Therapy.

[14]  C. Kramer,et al.  Phase 2 Study of Aficamten in Patients With Obstructive Hypertrophic Cardiomyopathy. , 2023, Journal of the American College of Cardiology.

[15]  I. Olivotto,et al.  Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes , 2022, Journal of Medical Genetics.

[16]  C. Wanner,et al.  Patient reported quality of life and medication adherence in Fabry disease patients treated with migalastat: A prospective, multicenter study. , 2022, Molecular genetics and metabolism.

[17]  Y. Chien,et al.  Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report. , 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

[18]  M. Wheeler,et al.  Effect of beta‐blocker therapy on the response to mavacamten in patients with symptomatic obstructive hypertrophic cardiomyopathy , 2022, European journal of heart failure.

[19]  M. Gelb,et al.  In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease. , 2022, The New England journal of medicine.

[20]  P. DasMahapatra,et al.  Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study. , 2022, Molecular genetics and metabolism.

[21]  N. Smedira,et al.  Myosin Inhibition and Left Ventricular Diastolic Function in Patients With Obstructive Hypertrophic Cardiomyopathy Referred for Septal Reduction Therapy: Insights From the VALOR-HCM Study , 2022, Circulation. Cardiovascular imaging.

[22]  M. Desai,et al.  Dose-Blinded Myosin Inhibition in Patients With Obstructive Hypertrophic Cardiomyopathy Referred for Septal Reduction Therapy: Outcomes Through 32 Weeks , 2022, Circulation.

[23]  N. Reza,et al.  Contemporary Therapies and Future Directions in the Management of Hypertrophic Cardiomyopathy , 2022, Cardiology and Therapy.

[24]  B. Gersh,et al.  Mavacamten Treatment for Hypertrophic Cardiomyopathy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials. , 2022, Current problems in cardiology.

[25]  M. Russo,et al.  Downregulation of Mannose-6-Phosphate Receptors in Fabry Disease Cardiomyopathy: A Potential Target for Enzyme Therapy Enhancement , 2022, Journal of clinical medicine.

[26]  E. Prado Montes de Oca,et al.  Prediction of Regulatory SNPs in Putative Minor Genes of the Neuro-Cardiovascular Variant in Fabry Reveals Insights into Autophagy/Apoptosis and Fibrosis , 2022, Biology.

[27]  N. Smedira,et al.  Myosin Inhibition in Patients With Obstructive Hypertrophic Cardiomyopathy Referred for Septal Reduction Therapy. , 2022, Journal of the American College of Cardiology.

[28]  A. Rodríguez-Gascón,et al.  Galactomannan-Decorated Lipidic Nanocarrier for Gene Supplementation Therapy in Fabry Disease , 2022, Nanomaterials.

[29]  C. Wanner,et al.  Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study , 2022, Molecular genetics and metabolism reports.

[30]  G. Donato,et al.  Divergent Impact of Enzyme Replacement Therapy on Human Cardiomyocytes and Enterocytes Affected by Fabry Disease: Correlation with Mannose-6-phosphate Receptor Expression , 2022, Journal of clinical medicine.

[31]  Wen-Chung Yu,et al.  Left Ventricular Apical Aneurysm in Fabry Disease: Implications for Clinical Significance and Risk Stratification , 2022, Journal of the American Heart Association.

[32]  F. Weidemann,et al.  Chaperone Therapy in Fabry Disease , 2022, International journal of molecular sciences.

[33]  D. Clark,et al.  Copper chelation in patients with hypertrophic cardiomyopathy , 2022, Open Heart.

[34]  M. Desai,et al.  Management of hypertrophic cardiomyopathy. , 1993, Heart disease and stroke : a journal for primary care physicians.

[35]  Hsiang-Yu Lin,et al.  Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and Meta-Analysis , 2022, International journal of medical sciences.

[36]  M. Tarnopolsky,et al.  Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial , 2021, The Lancet Neurology.

[37]  B. Byrne,et al.  Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial , 2021, The Lancet Neurology.

[38]  H. Zeng,et al.  Case Report: A Novel LAMP2 Splice-Altering Mutation Causes Cardiac-Only Danon Disease , 2021, Frontiers in Cardiovascular Medicine.

[39]  Emily A Eshraghian,et al.  Abstract 10727: Results from First-in-Human Clinical Trial of RP-A501 (AAV9:LAMP2B) Gene Therapy Treatment for Danon Disease , 2021, Circulation.

[40]  D. Rizopoulos,et al.  Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium. , 2021, The Lancet. Child & adolescent health.

[41]  Hong Qian,et al.  Hypertrophic Cardiomyopathy: From Phenotype and Pathogenesis to Treatment , 2021, Frontiers in Cardiovascular Medicine.

[42]  E. Chin,et al.  Discovery of Aficamten (CK-274), a Next-Generation Cardiac Myosin Inhibitor for the Treatment of Hypertrophic Cardiomyopathy. , 2021, Journal of medicinal chemistry.

[43]  B. Byrne,et al.  Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort , 2021, Cardiology in the Young.

[44]  P. Elliott,et al.  Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy , 2021, European heart journal.

[45]  E. Brand,et al.  Precision medicine in Fabry disease. , 2021, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[46]  T. Tsang,et al.  Fabry Cardiomyopathy: Current Practice and Future Directions , 2021, Cells.

[47]  D. Rader,et al.  A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank , 2021, medRxiv.

[48]  M. Weedon,et al.  Prevalence of Fabry disease-causing variants in the UK Biobank , 2021, Journal of Medical Genetics.

[49]  R. Bonow,et al.  Fibrosis in Hypertrophic Cardiomyopathy Patients With and Without Sarcomere Gene Mutations. , 2021, Heart, lung & circulation.

[50]  J. Spertus,et al.  Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): health status analysis of a randomised, double-blind, placebo-controlled, phase 3 trial , 2021, The Lancet.

[51]  Matthew W. Martinez,et al.  2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: A report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. , 2021, The Journal of thoracic and cardiovascular surgery.

[52]  N. Nadi,et al.  Clinical efficacy of the enzyme replacement therapy in patients with late-onset Pompe disease: a systematic review and a meta-analysis , 2021, Journal of Neurology.

[53]  C. Sommer,et al.  Treatment of fabry disease with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS). , 2021, European heart journal. Cardiovascular pharmacotherapy.

[54]  J. Medin,et al.  Lentivirus-mediated gene therapy for Fabry disease , 2021, Nature Communications.

[55]  B. Maron,et al.  EVOLUTION OF RISK STRATIFICATION AND SUDDEN DEATH PREVENTION IN HYPERTROPHIC CARDIOMYOPATHY: 20 YEARS WITH THE IMPLANTABLE CARDIOVERTER-DEFIBRILLATOR. , 2021, Heart rhythm.

[56]  J. Corchero,et al.  Nanotechnology-based approaches for treating lysosomal storage disorders, a focus on Fabry disease. , 2020, Wiley interdisciplinary reviews. Nanomedicine and nanobiotechnology.

[57]  Yen-Hung Lin,et al.  Long-term outcomes and left ventricular diastolic function of sarcomere mutation-positive and mutation-negative patients with hypertrophic cardiomyopathy: a prospective cohort study. , 2020, European heart journal cardiovascular Imaging.

[58]  S. Solomon,et al.  Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial , 2020, The Lancet.

[59]  N. Crawford,et al.  Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of Oral Venglustat in Healthy Volunteers , 2020, Clinical pharmacology in drug development.

[60]  T. Kubo,et al.  Lifelong Clinical Impact of the Presence of Sarcomere Gene Mutation in Japanese Patients With Hypertrophic Cardiomyopathy. , 2020, Circulation journal : official journal of the Japanese Circulation Society.

[61]  R. Mamidi,et al.  AAV9 gene transfer of cMyBPC N-terminal domains ameliorates cardiomyopathy in cMyBPC-deficient mice , 2020, JCI insight.

[62]  S. S. St Martin,et al.  AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction , 2020, Molecular therapy. Methods & clinical development.

[63]  S. Solomon,et al.  Evaluation of Mavacamten in Symptomatic Patients With Nonobstructive Hypertrophic Cardiomyopathy. , 2020, Journal of the American College of Cardiology.

[64]  F. Weidemann,et al.  Diagnosis and Screening of Patients with Fabry Disease , 2020, Therapeutics and clinical risk management.

[65]  N. Sousa,et al.  Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy? , 2020, American heart journal.

[66]  Yusu Gu,et al.  Systemic AAV9.LAMP2B injection reverses metabolic and physiologic multiorgan dysfunction in a murine model of Danon disease , 2020, Science Translational Medicine.

[67]  C. Wanner,et al.  Cardiomyopathy and kidney function in agalsidase beta‐treated female Fabry patients: a pre‐treatment vs. post‐treatment analysis , 2020, ESC heart failure.

[68]  M. Langeveld,et al.  Developments in the treatment of Fabry disease , 2020, Journal of inherited metabolic disease.

[69]  K. Nicholls,et al.  Switching from agalsidase alfa to pegunigalsidase alfa for treating Fabry disease: One year of treatment data from BRIDGE, a phase III open label study , 2020 .

[70]  D. Bali,et al.  Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease. , 2019, Molecular genetics and metabolism.

[71]  E. Fung,et al.  Hypertrophic Cardiomyopathy: An Overview of Genetics and Management , 2019, Biomolecules.

[72]  Chuan Liu,et al.  A novel MYBPC3 c.2737+1 (IVS26) G>T mutation responsible for high-risk hypertrophic cardiomyopathy , 2019, Cardiology in the Young.

[73]  C. Angelini,et al.  Review: Danon disease: Review of natural history and recent advances , 2019, Neuropathology and applied neurobiology.

[74]  D. Szczesna‐Cordary,et al.  Therapeutic potential of AAV9-S15D-RLC gene delivery in humanized MYL2 mouse model of HCM , 2019, Journal of Molecular Medicine.

[75]  P. Kellman,et al.  Quantitative Myocardial Perfusion in Fabry Disease. , 2019, Circulation. Cardiovascular imaging.

[76]  B. Greenberg,et al.  Danon disease: Gender differences in presentation and outcomes. , 2019, International journal of cardiology.

[77]  R. Schiffmann,et al.  Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1‐year Phase 1/2 clinical trial , 2019, Journal of inherited metabolic disease.

[78]  Songtao Li,et al.  Low-Dose Liver-Targeted Gene Therapy for Pompe Disease Enhances Therapeutic Efficacy of ERT via Immune Tolerance Induction , 2019, Molecular therapy. Methods & clinical development.

[79]  A. Owens,et al.  Mavacamten Treatment for Obstructive Hypertrophic Cardiomyopathy , 2019, Annals of Internal Medicine.

[80]  C. Lukacs,et al.  Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates. , 2019, American journal of human genetics.

[81]  H. Deng,et al.  Prevalence and clinical characteristics of Danon disease among patients with left ventricular hypertrophy and concomitant electrocardiographic preexcitation , 2019, Molecular genetics & genomic medicine.

[82]  S. Tuske,et al.  Improved efficacy of a next-generation ERT in murine Pompe disease. , 2019, JCI insight.

[83]  M. Heartlein,et al.  Improved Efficacy in a Fabry Disease Model Using a Systemic mRNA Liver Depot System as Compared to Enzyme Replacement Therapy , 2019, Molecular therapy : the journal of the American Society of Gene Therapy.

[84]  B. Byrne,et al.  Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascend , 2019, Neuromuscular Disorders.

[85]  E. Belanger,et al.  Lysosomal storage disorders affecting the heart: a review. , 2019, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

[86]  J. Oliveira,et al.  The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts , 2019, Molecular genetics and metabolism reports.

[87]  N. Sniadecki,et al.  LAMP-2B regulates human cardiomyocyte function by mediating autophagosome–lysosome fusion , 2018, Proceedings of the National Academy of Sciences.

[88]  Miguel Ángel Martínez,et al.  The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease , 2018, PloS one.

[89]  S. Markova,et al.  In vitro and in vivo pharmacokinetic characterization of mavacamten, a first-in-class small molecule allosteric modulator of beta cardiac myosin , 2018, Xenobiotica; the fate of foreign compounds in biological systems.

[90]  E. Ashley,et al.  Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy , 2018, Circulation.

[91]  D. Corcoran,et al.  Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease. , 2018, Molecular therapy : the journal of the American Society of Gene Therapy.

[92]  J. Seidman,et al.  Deciphering the super relaxed state of human β-cardiac myosin and the mode of action of mavacamten from myosin molecules to muscle fibers , 2018, Proceedings of the National Academy of Sciences.

[93]  E. Brand,et al.  Effects of Enzyme Replacement Therapy and Antidrug Antibodies in Patients with Fabry Disease. , 2018, Journal of the American Society of Nephrology : JASN.

[94]  A. Kimura,et al.  Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy , 2018, Journal of Human Genetics.

[95]  B. Bembi,et al.  Diagnosis and treatment of the cardiovascular consequences of Fabry disease , 2018, QJM : monthly journal of the Association of Physicians.

[96]  S. Cook,et al.  Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center , 2018, Genetics in Medicine.

[97]  F. Aarsen,et al.  Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain , 2018, Developmental medicine and child neurology.

[98]  B. Maron,et al.  Clinical Spectrum and Management of Heart Failure in Hypertrophic Cardiomyopathy. , 2018, JACC. Heart failure.

[99]  C. Eng,et al.  Fabry disease revisited: Management and treatment recommendations for adult patients. , 2018, Molecular genetics and metabolism.

[100]  C. Wanner,et al.  Lucerastat, an Iminosugar for Substrate Reduction Therapy: Tolerability, Pharmacodynamics, and Pharmacokinetics in Patients With Fabry Disease on Enzyme Replacement , 2018, Clinical pharmacology and therapeutics.

[101]  N. Chen,et al.  Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease , 2018, Experimental and therapeutic medicine.

[102]  B. Pau,et al.  Efficient therapy for refractory Pompe disease by mannose 6‐phosphate analogue grafting on acid &agr;‐glucosidase , 2018, Journal of controlled release : official journal of the Controlled Release Society.

[103]  M. Sabater-Molina,et al.  Genetics of hypertrophic cardiomyopathy: A review of current state , 2018 .

[104]  M. Kay,et al.  Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase , 2017, Science Translational Medicine.

[105]  E. Braunwald,et al.  Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. , 2017, Circulation research.

[106]  Ajit S. Divakaruni,et al.  Impaired mitophagy facilitates mitochondrial damage in Danon disease. , 2017, Journal of molecular and cellular cardiology.

[107]  T. Driscoll,et al.  Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications. , 2017, Circulation. Cardiovascular genetics.

[108]  M. Amiri,et al.  Case study on the pathophysiology of Fabry disease: abnormalities of cellular membranes can be reversed by substrate reduction in vitro , 2017, Bioscience reports.

[109]  B. Byrne,et al.  Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity , 2017, Experimental Neurology.

[110]  Songtao Li,et al.  Low-Dose Liver-Targeted Gene Therapy for Pompe Disease Enhances Therapeutic Efficacy of ERT via Immune Tolerance Induction , 2017, Molecular therapy. Methods & clinical development.

[111]  S. Cook,et al.  Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes , 2017, European heart journal.

[112]  S. Markova,et al.  A Small Molecule Inhibitor of Sarcomere Contractility Acutely Relieves Left Ventricular Outflow Tract Obstruction in Feline Hypertrophic Cardiomyopathy , 2016, PloS one.

[113]  D. Lockhart,et al.  Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study , 2016, Journal of Medical Genetics.

[114]  Jian Wang,et al.  Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing. , 2016, The American journal of cardiology.

[115]  D. Bruzzese,et al.  Switch to agalsidase alfa after shortage of agalsidase beta in Fabry disease: a systematic review and meta-analysis of the literature , 2016, Genetics in Medicine.

[116]  D. Lockhart,et al.  Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. , 2016, The New England journal of medicine.

[117]  B. Maron,et al.  How Hypertrophic Cardiomyopathy Became a Contemporary Treatable Genetic Disease With Low Mortality: Shaped by 50 Years of Clinical Research and Practice. , 2016, JAMA cardiology.

[118]  R. Boot,et al.  Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases , 2016, FEBS letters.

[119]  Christine E. Seidman,et al.  A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice , 2016, Science.

[120]  A. T. van der Ploeg,et al.  Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study , 2016, Journal of Inherited Metabolic Disease.

[121]  T. Conlon,et al.  Evaluation of Readministration of a Recombinant Adeno-Associated Virus Vector Expressing Acid Alpha-Glucosidase in Pompe Disease: Preclinical to Clinical Planning. , 2015, Human Gene Therapy Clinical Development.

[122]  K. Frazer,et al.  Brief Report: Oxidative Stress Mediates Cardiomyocyte Apoptosis in a Human Model of Danon Disease and Heart Failure , 2015, Stem cells.

[123]  J. Seidman,et al.  Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain , 2015, Heart.

[124]  B. Wang,et al.  Efficacy of Enzyme and Substrate Reduction Therapy with a Novel Antagonist of Glucosylceramide Synthase for Fabry Disease , 2015, Molecular medicine.

[125]  Barry J Maron,et al.  New perspectives on the prevalence of hypertrophic cardiomyopathy. , 2015, Journal of the American College of Cardiology.

[126]  M. Rudnicki,et al.  Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document , 2015, Orphanet Journal of Rare Diseases.

[127]  B. Byrne,et al.  Comparative impact of AAV and enzyme replacement therapy on respiratory and cardiac function in adult Pompe mice , 2015, Molecular therapy. Methods & clinical development.

[128]  Matthew S. Lebo,et al.  Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity , 2015, Genetics in Medicine.

[129]  C. Wanner,et al.  The Fabry cardiomyopathy - diagnostic approach and current treatment. , 2014, Current pharmaceutical design.

[130]  D. Sigg,et al.  Cardiac I-1c overexpression with reengineered AAV improves cardiac function in swine ischemic heart failure. , 2014, Molecular therapy : the journal of the American Society of Gene Therapy.

[131]  Carmine Mollica,et al.  A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy. , 2014, Molecular therapy : the journal of the American Society of Gene Therapy.

[132]  M. Hubank,et al.  Novel genotype–phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy , 2014, Heart.

[133]  L. Mestroni,et al.  Danon Disease: Clinical Features, Evaluation, and Management , 2014, Circulation: Heart Failure.

[134]  Giuseppe Limongelli,et al.  A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD). , 2014, European heart journal.

[135]  Barry J Maron,et al.  Hypertrophic cardiomyopathy: present and future, with translation into contemporary cardiovascular medicine. , 2014, Journal of the American College of Cardiology.

[136]  D. Bali,et al.  Adjunctive albuterol enhances the response to enzyme replacement therapy in late‐onset Pompe disease , 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[137]  M. Kroos,et al.  Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease , 2014, Journal of Inherited Metabolic Disease.

[138]  S. Luo,et al.  Novel LAMP2 mutations in Chinese patients with Danon disease cause varying degrees of clinical severity. , 2014, Clinical neuropathology.

[139]  B. Byrne,et al.  Sustained correction of motoneuron histopathology following intramuscular delivery of AAV in pompe mice. , 2014, Molecular therapy : the journal of the American Society of Gene Therapy.

[140]  B. Byrne,et al.  Intrapleural administration of AAV9 improves neural and cardiorespiratory function in Pompe disease. , 2013, Molecular therapy : the journal of the American Society of Gene Therapy.

[141]  T. Conlon,et al.  Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes. , 2013, Human gene therapy.

[142]  A. Pestronk,et al.  Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa. , 2012, Molecular genetics and metabolism.

[143]  W. Mckenna,et al.  A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy: a proof of concept study , 2012 .

[144]  Zhaoxia Wang,et al.  Danon disease caused by two novel mutations of the LAMP2 gene: implications for two ends of the clinical spectrum. , 2012, Clinical neuropathology.

[145]  C. Angelini,et al.  Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years , 2012, Journal of Neurology.

[146]  Songtao Li,et al.  β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease. , 2012, Molecular genetics and metabolism.

[147]  P. Elliott,et al.  Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry disease. , 2011, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

[148]  Yuan-Tsong Chen,et al.  The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease , 2011, Genetics in Medicine.

[149]  Songtao Li,et al.  Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle. , 2011, Molecular genetics and metabolism.

[150]  Matthew R. G. Taylor,et al.  Natural history of Danon disease , 2011, Genetics in Medicine.

[151]  H. Fu,et al.  Correction of neurological disease of mucopolysaccharidosis IIIB in adult mice by rAAV9 trans-blood-brain barrier gene delivery. , 2011, Molecular therapy : the journal of the American Society of Gene Therapy.

[152]  Carolyn Y. Ho,et al.  Is Genotype Clinically Useful in Predicting Prognosis in Hypertrophic Cardiomyopathy? Genetics and Clinical Destiny: Improving Care in Hypertrophic Cardiomyopathy Response by Landstrom on P 2440 Genetics of Hcm Controversies in Cardiovascular Medicine , 2022 .

[153]  J. Jaeken,et al.  Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study , 2010, Neuromuscular Disorders.

[154]  Matthew R. G. Taylor,et al.  Functional performance and muscle strength phenotypes in men and women with Danon disease , 2010, Muscle & nerve.

[155]  D. Germain Fabry disease , 2010, Orphanet journal of rare diseases.

[156]  R. Hopkin,et al.  Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: Findings from the Fabry Registry , 2010, Genetics in Medicine.

[157]  J. E. Wraith,et al.  Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience , 2010, Journal of Inherited Metabolic Disease.

[158]  B. Bembi,et al.  Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II , 2010, Journal of Inherited Metabolic Disease.

[159]  A. Pestronk,et al.  A randomized study of alglucosidase alfa in late-onset Pompe's disease. , 2010, The New England journal of medicine.

[160]  Michael J Ackerman,et al.  Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. , 2010, Journal of the American College of Cardiology.

[161]  B. Wong,et al.  LAMP2 Microdeletions in Patients With Danon Disease , 2010, Circulation. Cardiovascular genetics.

[162]  Y. Chien,et al.  Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. , 2010, Molecular genetics and metabolism.

[163]  T. Conlon,et al.  Gel-mediated delivery of AAV1 vectors corrects ventilatory function in Pompe mice with established disease. , 2010, Molecular therapy : the journal of the American Society of Gene Therapy.

[164]  G. Bonsel,et al.  Risk stratification for sudden cardiac death in hypertrophic cardiomyopathy: systematic review of clinical risk markers. , 2010, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

[165]  M. Kulis,et al.  Immunomodulatory gene therapy prevents antibody formation and lethal hypersensitivity reactions in murine pompe disease. , 2010, Molecular therapy : the journal of the American Society of Gene Therapy.

[166]  J. Clancy,et al.  Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease , 2009, Pediatric Research.

[167]  F. Endo,et al.  High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population. , 2009, Molecular genetics and metabolism.

[168]  R. Mattaliano,et al.  Glycoengineered Acid α-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease. , 2009, Molecular therapy : the journal of the American Society of Gene Therapy.

[169]  B. Maron,et al.  Sudden Deaths in Young Competitive Athletes: Analysis of 1866 Deaths in the United States, 1980–2006 , 2009, Circulation.

[170]  D. Szczesna‐Cordary,et al.  Malignant familial hypertrophic cardiomyopathy D166V mutation in the ventricular myosin regulatory light chain causes profound effects in skinned and intact papillary muscle fibers from transgenic mice , 2009, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[171]  B. Byrne,et al.  Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease , 2009, Genetics in Medicine.

[172]  M. Beer,et al.  Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy Evidence for a Better Outcome With Early Treatment , 2009 .

[173]  M. Regnier,et al.  Contribution of the Myosin Binding Protein C Motif to Functional Effects in Permeabilized Rat Trabeculae , 2008, The Journal of general physiology.

[174]  R. Hopkin,et al.  Fabry's disease , 2008, The Lancet.

[175]  A. Pestronk,et al.  Clinical features of late‐onset Pompe disease: A prospective cohort study , 2008, Muscle & nerve.

[176]  Peter Nürnberg,et al.  Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. , 2008, Human molecular genetics.

[177]  E. Génin,et al.  Identifying modifier genes of monogenic disease: strategies and difficulties , 2008, Human Genetics.

[178]  E. Aronica,et al.  EXTENSION OF THE CLINICAL SPECTRUM OF DANON DISEASE , 2008, Neurology.

[179]  R. Brady,et al.  Elevated globotriaosylsphingosine is a hallmark of Fabry disease , 2008, Proceedings of the National Academy of Sciences.

[180]  C. Tei,et al.  Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study. , 2008, Journal of cardiology.

[181]  M. Yacoub,et al.  'End-stage' hypertrophic cardiomyopathy: from mystery to model , 2007, Nature Clinical Practice Cardiovascular Medicine.

[182]  P. Elliott,et al.  The heart in Anderson-Fabry disease and other lysosomal storage disorders , 2007, Heart.

[183]  B. Byrne,et al.  Physiological correction of Pompe disease by systemic delivery of adeno-associated virus serotype 1 vectors. , 2007, Molecular therapy : the journal of the American Society of Gene Therapy.

[184]  W. Hwu,et al.  Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe disease , 2007 .

[185]  Wuh-Liang Hwu,et al.  A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. , 2006, The Journal of pediatrics.

[186]  J. Towbin,et al.  Danon Disease as an Underrecognized Cause of Hypertrophic Cardiomyopathy in Children , 2005, Circulation.

[187]  I. Nishino,et al.  Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene , 2005, Neuromuscular Disorders.

[188]  D. Koeberl,et al.  Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter. , 2005, Molecular therapy : the journal of the American Society of Gene Therapy.

[189]  J. Sandstede,et al.  The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. , 2005, European heart journal.

[190]  R. Moss,et al.  Binding of Myosin Binding Protein-C to Myosin Subfragment S2 Affects Contractility Independent of a Tether Mechanism , 2004, Circulation research.

[191]  M. Komajda,et al.  Calcified mediastinal haematoma: a rare case of cardiac constriction , 2004, Heart.

[192]  D. Pennell,et al.  Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. , 2003, European heart journal.

[193]  P. Elliott,et al.  Non-sustained ventricular tachycardia in hypertrophic cardiomyopathy: an independent marker of sudden death risk in young patients. , 2003, Journal of the American College of Cardiology.

[194]  W. Hop,et al.  The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. , 2003, Pediatrics.

[195]  Ferhaan Ahmad,et al.  Transgenic Mice Overexpressing Mutant PRKAG2 Define the Cause of Wolff-Parkinson-White Syndrome in Glycogen Storage Cardiomyopathy , 2003, Circulation.

[196]  S. Kornfeld,et al.  Mannose 6-phosphate receptors: new twists in the tale , 2003, Nature Reviews Molecular Cell Biology.

[197]  B. Byrne,et al.  Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors. , 2002, Molecular therapy : the journal of the American Society of Gene Therapy.

[198]  C. Eng,et al.  Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. , 2001, The New England journal of medicine.

[199]  S. Dimauro,et al.  Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease) , 2000, Nature.

[200]  F. Martiniuk,et al.  Identification of two subtypes of infantile acid maltase deficiency. , 2000, The Journal of pediatrics.

[201]  N. Raben,et al.  Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[202]  D. Pauly,et al.  Complete correction of acid α-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle , 1998, Gene Therapy.

[203]  N. Raben,et al.  A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II). , 1996, Human molecular genetics.

[204]  J. Gardin,et al.  Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. , 1995, Circulation.

[205]  C. Boerkoel,et al.  Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. , 1995, American journal of human genetics.

[206]  S. Dimauro,et al.  Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation. , 1994, Human molecular genetics.

[207]  L. Hoefsloot,et al.  Characterization of the human lysosomal alpha-glucosidase gene. , 1990, The Biochemical journal.

[208]  S. Dimauro,et al.  Lysosomal glycogen storage disease with normal acid maltase , 1981, Neurology.

[209]  J. Moller,et al.  Electrocardiographic and vectorcardiographic abnormalities in Fabry's disease. , 1977, American heart journal.

[210]  C. Semsarian,et al.  Making The Case For Cascade Screening Amongst Families With Inherited Heart Diseases. , 2019, Heart rhythm.

[211]  C. Rapezzi,et al.  The Electrocardiogram in the Diagnosis and Management of Patients with Hypertrophic Cardiomyopathy. , 2019, Heart rhythm.

[212]  Thomas P. Mechtler,et al.  Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes. , 2017, Molecular genetics and metabolism.

[213]  T. Conlon,et al.  Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease. , 2017, Human gene therapy. Clinical development.

[214]  M. Namdar Electrocardiographic Changes and Arrhythmia in Fabry Disease , 2016, Front. Cardiovasc. Med..

[215]  N. Karabul,et al.  Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany. , 2015, JIMD reports.

[216]  T. Conlon,et al.  Phase I / II Trial of Diaphragm Delivery of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase ( rAAV 1-CMV-GAA ) Gene Vector in Patients with Pompe Disease , 2014 .

[217]  B. Bembi,et al.  The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease , 2010, Genetics in Medicine.

[218]  F. Glocker,et al.  Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial , 2009, Journal of Neurology.

[219]  D. Germain,et al.  Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies. , 2009, International journal of clinical pharmacology and therapeutics.

[220]  Germain Dp,et al.  Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies. , 2009 .

[221]  R. Mattaliano,et al.  Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease. , 2009, Molecular therapy : the journal of the American Society of Gene Therapy.

[222]  寺口 博幸 Terminal stage cardiac findings in patients with cardiac Fabry disease : an electrocardiographic, echocardiographic, and autopsy study , 2008 .

[223]  B. Byrne,et al.  Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. , 2007, Neurology.