Fabry disease: More than a phenocopy of hypertrophic cardiomyopathy
K Stankowski, S Figliozzi, V Battaglia… - Journal of Clinical …, 2023 - mdpi.com
Fabry disease (FD) is a genetic lysosomal storage disease with frequent cardiovascular
involvement, whose presence is a major determinant of adverse clinical outcomes. As a …
involvement, whose presence is a major determinant of adverse clinical outcomes. As a …
Clinical staging of Anderson-Fabry cardiomyopathy: an operative proposal
A Del Franco, G Iannaccone, MC Meucci, R Lillo… - Heart failure …, 2024 - Springer
As a slowly progressive form of hypertrophic cardiomyopathy (HCM), Anderson-Fabry
disease (FD) resembles the phenotype of the most common sarcomeric forms, although …
disease (FD) resembles the phenotype of the most common sarcomeric forms, although …
[HTML][HTML] When Paying Attention Pays Back: Missense Mutation c. 1006G> A p.(Val336Ile) in PRKAG2 Gene Causing Left Ventricular Hypertrophy and Conduction …
E Micaglio, L Tondi, S Benedetti… - International …, 2024 - pmc.ncbi.nlm.nih.gov
PRKAG2 cardiomyopathy is a rare genetic disorder that manifests early in life with an
autosomal dominant inheritance pattern. It harbors left ventricular hypertrophy (LVH) …
autosomal dominant inheritance pattern. It harbors left ventricular hypertrophy (LVH) …
Cardiovascular magnetic resonance insights into anomalies of the mitral valve apparatus in Fabry cardiomyopathy and hypertrophic cardiomyopathy
Background and aims Despite different etiopathogenesis, Fabry Disease cardiomyopathy
(FDc) and sarcomeric hypertrophic cardiomyopathy (HCM) share a similar hypertrophic …
(FDc) and sarcomeric hypertrophic cardiomyopathy (HCM) share a similar hypertrophic …
Interstitial fibrosis is associated with left atrial remodeling and adverse clinical outcomes in selected low-risk patients with hypertrophic cardiomyopathy
Background Cardiovascular magnetic resonance (CMR) extracellular volume (ECV) allows
non-invasive detection of myocardial interstitial fibrosis, which may be related to diastolic …
non-invasive detection of myocardial interstitial fibrosis, which may be related to diastolic …
Integrating urinary and plasma omics to identify markers and therapeutic targets for cardiac disease
SC de Ruiter, M van Vugt, C Finan, R Provindencia… - medRxiv, 2024 - medrxiv.org
Introduction: Urinary breakdown products, representing kidney regulated filtration of
metabolism end products, contain cardiac disease biomarkers such as NT-proBNP. We set …
metabolism end products, contain cardiac disease biomarkers such as NT-proBNP. We set …
[HTML][HTML] Recent highlights on myocarditis and cardiomyopathies from the International Journal of Cardiology and International Journal of Cardiology: Heart & …
N Conti, E Ammirati, A Tedeschi… - International Journal of …, 2023 - ncbi.nlm.nih.gov
HCM patients, which tended to be associated with endothelial dysfunction [26]. Further
studies are required to assess if LVOTO obstruction could be reversed by improving venous …
studies are required to assess if LVOTO obstruction could be reversed by improving venous …