Review
Medicine, General & Internal
Chung-Lin Lee, Shuan-Pei Lin, Dau-Ming Niu, Hsiang-Yu Lin
Summary: According to our meta-analysis, ERT has beneficial effects on LVH improvement in Fabry disease patients. It is recommended to start ERT as early as possible in female carriers and atypically affected males.
INTERNATIONAL JOURNAL OF MEDICAL SCIENCES
(2022)
Review
Chemistry, Medicinal
Muhammad Umer, Dinesh K. K. Kalra
Summary: Fabry disease is a rare genetic disorder that affects the metabolism of glycosphingolipids. It results in the accumulation of globotriaosylceramide in lysosomes due to a deficiency of the alpha-galactosidase A enzyme. This disease affects multiple organs, mainly the kidneys, heart, and cerebrovascular system. Early diagnosis and treatment are crucial in preventing irreversible tissue damage, organ failure, and life-threatening complications that can significantly impact life expectancy. This review focuses on the current and emerging treatment options for Fabry disease.
Article
Multidisciplinary Sciences
Jannike Nickander, Ben Cole, Sabrina Nordin, Ravi Vijapurapu, Richard P. Steeds, James C. Moon, Peter Kellman, Martin Ugander, Rebecca Kozor
Summary: In a multicenter study of Fabry patients and healthy controls, blood-correction of myocardial native T1 was found to increase the number of patients with low T1 and reclassify them as having cardiac involvement. This blood-correction may potentially allow for earlier detection and therapy initiation.
SCIENTIFIC REPORTS
(2023)
Article
Cardiac & Cardiovascular Systems
Hao-Chih Chang, Ling Kuo, Shih-Hsien Sung, Ching-Yao Weng, Chun-Ku Chen, Dau-Ming Niu, Shih-Ann Chen, Wen-Chung Yu
Summary: Left ventricular apical aneurysm (LVAA) is common in Fabry disease patients with left ventricular hypertrophy (LVH), and it is associated with an increased risk of adverse cardiovascular events. Aggressive treatment is needed for Fabry disease patients with both LVH and LVAA.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Cell Biology
Irene Salamon, Elena Biagini, Paolo Kunderfranco, Roberta Roncarati, Manuela Ferracin, Nevio Taglieri, Elena Nardi, Noemi Laprovitera, Luciana Tomasi, Marisa Santostefano, Raffaello Ditaranto, Giovanni Vitale, Elena Cavarretta, Antonio Pisani, Eleonora Riccio, Valeria Aiello, Irene Capelli, Gaetano La Manna, Nazzareno Galie, Letizia Spinelli, Gianluigi Condorelli
Summary: miR-184 is a circulating biomarker associated with AFD that changes after ERT. Assessing its level in plasma could be clinically valuable in improving the prediction of cardiac damage in AFD patients.
CELL DEATH & DISEASE
(2021)
Article
Cardiac & Cardiovascular Systems
Jin Kyung Oh, Sun Hack Lee, Seung-Ah Lee, Do-Yoon Kang, Sahmin Lee, Ho Jin Kim, Jung-Min Ahn, Joon Bum Kim, Duk-Woo Park, Jong-Min Song, Suk Jung Choo, Duk-Hyun Kang, Jae-Kwan Song, Seung-Jung Park, Dae-Hee Kim
Summary: The degree of LVMi regression is an independent predictor of postoperative outcomes after TAVR in patients with severe AS who received successful TAVR without significant PVR.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Ljuba Bacharova, Marta Kollarova, Branislav Bezak, Allan Bohm
Summary: Left ventricular hypertrophy (LVH) refers to the complex rebuilding of the left ventricle, which can lead to heart failure and life-threatening ventricular arrhythmias. Imaging methods such as echocardiography and cardiac magnetic resonance can diagnose the increase in left ventricle size, while other methods can evaluate the functional status and underlying processes of LVH. Molecular and genetic biomarkers offer insights and potential for targeted therapy. This review summarizes the main biomarkers used in LVH evaluation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Menno ter Huurne, Benjamin L. Parker, Ning Qing Liu, Elizabeth Ling Qian, Celine Vivien, Kathy Karavendzas, Richard J. Mills, Jennifer T. Saville, Dad Abu-Bonsrah, Andrea F. Wise, James E. Hudson, Andrew S. Talbot, Patrick F. Finn, Paolo G. V. Martini, Maria Fuller, Sharon D. Ricardo, Kevin I. Watt, Kathy M. Nicholls, Enzo R. Porrello, David A. Elliott
Summary: This study evaluated the efficacy of nucleoside-modified messenger RNA (modRNA) treatment for Fabry disease and validated it using a human cardiac model generated from induced pluripotent stem cells. The results showed that modRNA treatment restored α-Galactosidase A enzyme activity and reduced glycosphingolipid accumulation, demonstrating its therapeutic potential.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Cardiac & Cardiovascular Systems
Satoshi Morimoto, Ayumi Nojiri, Eiko Fukuro, Ikuko Anan, Makoto Kawai, Ken Sakurai, Masahisa Kobayashi, Hiroshi Kobayashi, Hiroyuki Ida, Toya Ohashi, Takahiro Shibata, Michihiro Yoshimura, Yoshikatsu Eto, Kenichi Hongo
Summary: The study analyzed the changes in ECG parameters in 40 Japanese Fabry patients under long-term ERT treatment. The findings suggest that prolongation of QRS duration and QTc in male patients may indicate the progression of myocardial damage in LVH patients and female patients with classical type mutations.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Review
Biochemistry & Molecular Biology
Olga Azevedo, Filipa Cordeiro, Miguel Fernandes Gago, Gabriel Miltenberger-Miltenyi, Catarina Ferreira, Nuno Sousa, Damiao Cunha
Summary: Fabry disease is an X-linked lysosomal storage disorder caused by GLA gene mutations, resulting in accumulation of GB3 in cardiac cells and leading to cardiac issues. Despite available therapies, cardiac involvement remains the main cause of death in patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cardiac & Cardiovascular Systems
Yujin Yang, Jung-Min Ahn, Do-Yoon Kang, Euihong Ko, Seonok Kim, Tae Oh Kim, Ju Hyeon Kim, Junghoon Lee, Seung-Ah Lee, Dae-Hee Kim, Ho Jin Kim, Joon Bum Kim, Suk Jung Choo, Seung-Jung Park, Duk-Woo Park
Summary: In patients with severe aortic stenosis undergoing transcatheter aortic valve replacement, electrocardiographic left ventricular hypertrophy (LVH) assessed by Cornell criteria was significantly associated with lower risks of major adverse cardiac or cerebrovascular events (MACCE), all-cause mortality, and cardiovascular mortality.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Editorial Material
Urology & Nephrology
Raad Chowdhury, Manisha Jhamb
Summary: The study found that a 6-month intradialytic cycling program led to a significant reduction in left ventricular mass in hemodialysis patients, but did not have a significant effect on physical function, physical activity, or health-related quality of life.
KIDNEY INTERNATIONAL
(2021)
Review
Medicine, General & Internal
Sahrai Saeed, Massimo Imazio
Summary: Fabry disease is a rare X-linked genetic disease characterized by deficient enzyme activity, leading to disrupted metabolism and multiple organ involvement. Enzyme replacement therapy is an established treatment that improves quality of life and reduces cardiac burden.
PAKISTAN JOURNAL OF MEDICAL SCIENCES
(2022)
Article
Cardiac & Cardiovascular Systems
Tuncay Guzel, Fatma Nihan Turhan Caglar, Berkay Ekici, Mehmet Kis, Selvi Oztas, Ahmet Oz, Gulay Gok, Zeynep Kolak, Ercan Aksit, Suleyman Anil Sarica, Murat Bayrak, Oguzhan Birdal, Berat Uguz, Mesut Gitmez, Gul Ilayda Berk, Mustafa Oguz, Ali Nazmi Calik, Salih Kilic, Mehdi Zoghi, Asim Oktay Ergene
Summary: The purpose of this study was to determine the rate of Fabry Disease (FD) in patients with left ventricular hypertrophy (LVH) and evaluate their clinical presentations. The results showed that male gender, E/e' mean, and severe hypertrophy are important risk factors for FD. Therefore, FD should be considered not only in adult patients with unexplained LVH but also in the entire LVH population. Dry blood test (DBS) should be considered in high-risk patients, and mutation analysis should be considered in required patients.
INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING
(2023)
Article
Medicine, General & Internal
Yiting Fan, Tsz-Ngai Chan, Josie T. Y. Chow, Kevin K. H. Kam, Wai-Kin Chi, Joseph Y. S. Chan, Erik Fung, Mabel M. P. Tong, Jeffery K. T. Wong, Paul C. L. Choi, David K. H. Chan, Bun Sheng, Alex Pui-Wai Lee
Summary: Late-onset IVS4 + 919G > A FD is prevalent among Chinese LVH patients and should be considered as a cause of LVH in adult patients, even when hypertension and/or valve pathology are present.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Elie Mousseaux, Lucia Agoston-Coldea, Zora Marjanovic, Mathilde Baudet, Guillaume Reverdito, Emilie Bollache, Nadjia Kachenoura, Emmanuel Messas, Gilles Soulat, Dominique Farge
Summary: The aim of this study was to assess the ability of phase-contrast (PC)-MRI to detect subclinical left and right ventricular diastolic dysfunction in systemic sclerosis (SSc) patients. The results showed that MRI was able to accurately detect diastolic dysfunction in SSc patients without left ventricular systolic dysfunction at echocardiography.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2022)
Article
Acoustics
Federica Poli, Catherine Fortier, Hakim Khettab, Francesco Faita, Saverio Vitali, Giacomo Aringhieri, Lorenzo Ghiadoni, Stefano Taddei, Laurence Amar, Aurelien Lorthioir, Pierre Boutouyrie, Rosa Maria Bruno
Summary: Ultrahigh-frequency ultrasound is a useful tool for studying human small muscular arteries and understanding arterial aging. The Carotid Studio software is a valid and reproducible tool for analyzing UHFUS scans of digital arteries.
ULTRASOUND IN MEDICINE AND BIOLOGY
(2022)
Editorial Material
Cardiac & Cardiovascular Systems
Pierre Boutouyrie
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Yousef Alattar, Gilles Soulat, Umit Gencer, Emmanuel Messas, Emilie Bollache, Nadjia Kachenoura, Elie Mousseaux
Summary: This study investigated the value of 4D flow MRI in measuring mitral filling and its correlation with TTE and 2D flow MRI. The results showed good agreement between 4D flow MRI and the reference methods in measuring flow rates and E/A ratios. The measurements using 4D flow MRI were reproducible and correlated with age and LV remodeling.
DIAGNOSTIC AND INTERVENTIONAL IMAGING
(2022)
Review
Medicine, General & Internal
Junior Justin, Antoine Fayol, Rosa-Maria Bruno, Hakim Khettab, Pierre Boutouyrie
Summary: High blood pressure is the leading cause of death worldwide, with approximately 1.5 billion people suffering from hypertension in 2010. The guidelines for hypertension management by Canadian, American, International, and European organizations provide the basic principles, but they differ in the definition, measurement, and treatment of blood pressure.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Pharmacology & Pharmacy
Guillaume Drevin, Marie Briet, Caroline Bazzoli, Emmanuel Gyan, Aline Schmidt, Herve Dombret, Corentin Orvain, Aurelien Giltat, Christian Recher, Norbert Ifrah, Philippe Guardiola, Mathilde Hunault-Berger, Chadi Abbara
Summary: This study aimed to assess the pharmacokinetics of daunorubicin in patients with acute myeloid leukemia and determine the optimal population PK study design. The results showed significant inter-individual variability in the PK profile of daunorubicin. A practical optimal population design with five sampling times per subject was proposed for future studies.
Article
Peripheral Vascular Disease
Pierre Boutouyrie, Antoine Fayol, Catherine Fortier, Hakim Khettab, Catalin Cristian, Umit Gencer, David Fouassier, Elie Mousseaux, Audrey Derobertmasure, Carole Leguy, Rosa-Maria Bruno
Summary: This study investigates the cardiovascular consequences of long-term microgravity on large arteries. The results show that changes in arterial properties differ according to the arterial territory and structure type. Furthermore, head-down bed rest (HDBR) leads to an increase in arterial stiffness, which does not completely recover after HDBR. These findings highlight the importance of considering the long-term cardiovascular effects of microgravity.
JOURNAL OF HYPERTENSION
(2022)
Article
Cardiac & Cardiovascular Systems
Salma Adham, Anne Legrand, Rosa-Maria Bruno, Clarisse Billon, Violaine Dalens, Pierre Boutouyrie, Jean-Michael Mazzella, Sonia Gueguen, Michael Frank, Tristan Mirault, Xavier Jeunemaitre
Summary: Most vEDS patients have arterial lesions, primarily in medium-size arteries (MSA). DN variants are associated with a higher prevalence of arterial lesions, especially in supra-aortic trunks, while HI variants are more likely to have both arterial and aortic lesions. Patients with DN variants have a higher frequency of MSA lesions.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Editorial Material
Radiology, Nuclear Medicine & Medical Imaging
Gilles Soulat, Elie Mousseaux
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2023)
Editorial Material
Radiology, Nuclear Medicine & Medical Imaging
Gilles Soulat, Elie Mousseaux, Etienne Puymirat
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2023)
Article
Oncology
Morgane Cellier, Delphine Bourneau-Martin, Chadi Abbara, Alexandre Crosnier, Laurence Lagarce, Anne-Sophie Garnier, Marie Briet
Summary: Tyrosine kinase inhibitors, such as imatinib, dasatinib, nilotinib, bosutinib, and ponatinib, have significantly improved survival and quality of life in hematological cancers. However, these drugs may cause adverse drug effects on the kidney due to their activity against tyrosine kinases expressed in the kidney. A study using the WHO global safety database found signals of renal failure, fluid retention, nephrotic syndrome, and renal artery stenosis associated with these tyrosine kinase inhibitors.
Article
Immunology
Oriol Manuel, Mirjam Laager, Cedric Hirzel, Dionysios Neofytos, Laura N. Walti, Gideon Hoenger, Isabelle Binet, Aurelia Schnyder, Susanne Stampf, Michael Koller, Matteo Mombelli, Min Jeong Kim, Matthias Hoffmann, Katrin Koenig, Christoph Hess, Anne-Valerie Burgener, Pietro E. Cippa, Kerstin Huebel, Thomas F. Mueller, Daniel Sidler, Suzan Dahdal, Franziska Suter-Riniker, Jean Villard, Andrea Zbinden, Giuseppe Pantaleo, Nasser Semmo, Karine Hadaya, Natalia Enriquez, Pascal R. Meylan, Marc Froissart, Dela Golshayan, Thomas Fehr, Uyen Huynh-Do, Manuel Pascual, Christian van Delden, Hans H. Hirsch, Peter Jueni, Nicolas J. Mueller, Swiss Transplant Cohort Study STCS
Summary: This study examined the use of immune monitoring to individualize the duration of antiviral prophylaxis after transplantation. The results showed that immune monitoring led to a significant reduction in prophylaxis duration, but did not establish noninferiority in terms of the primary outcome of CMV infection.
CLINICAL INFECTIOUS DISEASES
(2023)
Article
Cardiac & Cardiovascular Systems
Aboubakari Nambiema, Quentin Lisan, Julien Vaucher, Marie-Cecile Perier, Pierre Boutouyrie, Nicolas Danchin, Frederique Thomas, Catherine Guibout, Geoffroy Solelhac, Raphael Heinzer, Xavier Jouven, Pedro Marques-Vidal, Jean-Philippe Empana
Summary: The study found that higher healthy sleep scores and improvement over time were associated with a lower risk of coronary heart disease and stroke in the community.
EUROPEAN HEART JOURNAL
(2023)
Article
Urology & Nephrology
Lesley A. Inker, Hocine Tighiouart, Ogechi M. Adingwupu, Michael G. Shlipak, Alessandro Doria, Michelle M. Estrella, Marc Froissart, Vilmundur Gudnason, Anders Grubb, Roberto Kalil, Michael Mauer, Peter Rossing, Jesse Seegmiller, Josef Coresh, Andrew S. Levey
Summary: New CKD-EPI and EKFC eGFR equations have sufficient accuracy for clinical practice. Differences in performance across subgroups reflect diversity in source populations and use of variables. Using eGFR equations with both cystatin C and creatinine can improve accuracy and uniformity of GFR estimation.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Article
Urology & Nephrology
Yeli Wang, Ogechi M. Adingwupu, Michael G. Shlipak, Alessandro Doria, Michelle M. Estrella, Marc Froissart, Vilmundur Gudnason, Anders Grubb, Roberto Kalil, Michael Mauer, Peter Rossing, Jesse Seegmiller, Josef Coresh, Andrew S. Levey, Lesley A. Inker
Summary: This study found that the combination of cystatin C and creatinine provides the most accurate estimates of glomerular filtration rate, especially when eGFRcr and eGFRcys are discordant.