| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jing Yong Ng, Essa Zarook, Luke Nicholson, Mohammed Yunus Khanji, Choudhary Anwar Ahmed Chaha. Eyes and the heart: what a clinician should know. Heart (British Cardiac Society). 2023-07-28. PMID:37507215. |
rarer diseases, such as fabry disease, would be accompanied by ocular signs such as cornea verticillata and such cardiac manifestations include cardiac hypertrophy as well as arrhythmias. |
2023-07-28 |
2023-08-14 |
Not clear |
| Josef Marek, Barbora Chocholová, Daniel Rob, Tomáš Paleček, Martin Mašek, Gabriela Dostálová, Aleš Linhar. Three-dimensional echocardiographic left ventricular strain analysis in Fabry disease: correlation with heart failure severity, myocardial scar, and impact on long-term prognosis. European heart journal. Cardiovascular Imaging. 2023-06-13. PMID:37309820. |
fabry disease (fd) is a multisystemic lysosomal storage disorder caused by a defect in the alpha-galactosidase a gene that manifests as a phenocopy of hypertrophic cardiomyopathy. |
2023-06-13 |
2023-08-14 |
Not clear |
| Kazufumi Nakamura, Hiroshi Morita, Yoichi Takaya, Yukihiro Saito, Toru Miyoshi, Hiroshi Morinaga, Hitoshi Sugiyama, Jun Wada, Hiroshi It. Effects of Agalsidase Alfa Enzyme Replacement Therapy on Left Ventricular Hypertrophy on Electrocardiogram in a Female Patient with Fabry Disease. International heart journal. 2023-05-17. PMID:37197914. |
effects of agalsidase alfa enzyme replacement therapy on left ventricular hypertrophy on electrocardiogram in a female patient with fabry disease. |
2023-05-17 |
2023-08-14 |
Not clear |
| Giovanni Donato Aquaro, Carmelo De Gori, Lorenzo Faggioni, Maria Luisa Parisella, Dania Cioni, Riccardo Lencioni, Emanuele Ner. Diagnostic and prognostic role of late gadolinium enhancement in cardiomyopathies. European heart journal supplements : journal of the European Society of Cardiology. vol 25. issue Suppl C. 2023-05-01. PMID:37125322. |
in chronic myocardial infarction, hypertrophic cardiomyopathies (hcm), dilated cardiomyopathy, fabry disease, and other conditions, lge is a marker of myocardial fibrosis, but also in patients with acute myocarditis where lge may be also explained by the increase of interstitial space caused by interstitial oedema or by tissue infiltration of inflammatory cells. |
2023-05-01 |
2023-08-14 |
Not clear |
| Rosa Lillo, Francesca Graziani, Francesco Franceschi, Giulia Iannaccone, Massimo Massetti, Iacopo Olivotto, Filippo Crea, Giovanna Liuzz. Inflammation across the spectrum of hypertrophic cardiac phenotypes. Heart failure reviews. 2023-04-28. PMID:37115472. |
this "umbrella diagnosis" includes the "classic" hypertrophic cardiomyopathy (hcm), due to sarcomere protein gene mutations, and its phenocopies caused by intra- or extracellular deposits, such as fabry disease (fd) and cardiac amyloidosis (ca). |
2023-04-28 |
2023-08-14 |
Not clear |
| Roxana Hiestand, Albina Nowak, Justyna M Sokolska, Raymond Chan, Frank Ruschitzka, Robert Manka, Christiane Grune. Clinical and CMR characteristics associated with cardiac events in patients with Fabry disease. International journal of cardiology. 2023-04-12. PMID:37044180. |
the assessment of late gadolinium enhancement (lge) and left ventricular hypertrophy (lvh) by cardiac magnetic resonance (cmr) as diagnostic and prognostic maker in fabry disease is advancing. |
2023-04-12 |
2023-08-14 |
Not clear |
| Maxim Avanesov, Anahid Asgari, Nicole Muschol, Anja Friederike Köhn, Enver Tahir, Gerhard Adam, Paulus Kirchhof, Gunnar Lund, Ersin Cavus, Monica Patte. Comparison of classical Fabry and its p.D313Y and p.A143T variants by cardiac T1 mapping, LGE and feature tracking myocardial strain. Scientific reports. vol 13. issue 1. 2023-04-10. PMID:37037838. |
cardiac manifestation of classical fabry disease (cfd) varies with sex and presence of left ventricular hypertrophy. |
2023-04-10 |
2023-08-14 |
Not clear |
| Ebru Özpelit, Yüksel Çavuşoğlu, Hikmet Yorgun, Emir Özgür Barış Ökçün, Rabia Eker Akıllı, Ahmet Çelik, Necip Ermiş, Demet Menekşe Gerede Uludağ, Gokhan Kahveci, Şefika Uslu Çil, Erkan Erfidan, Omaç Tufekciogl. The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey. Anatolian journal of cardiology. vol 27. issue 4. 2023-03-30. PMID:36995061. |
the frequency of fabry disease in patients with cardiac hypertrophy of various phenotypes including prominent papillary muscle: the tucarfab study in turkey. |
2023-03-30 |
2023-08-14 |
Not clear |
| Ebru Özpelit, Yüksel Çavuşoğlu, Hikmet Yorgun, Emir Özgür Barış Ökçün, Rabia Eker Akıllı, Ahmet Çelik, Necip Ermiş, Demet Menekşe Gerede Uludağ, Gokhan Kahveci, Şefika Uslu Çil, Erkan Erfidan, Omaç Tufekciogl. The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey. Anatolian journal of cardiology. vol 27. issue 4. 2023-03-30. PMID:36995061. |
the present study aimed to identify the frequency of fabry disease in patients with cardiac hypertrophy of unknown etiology and to evaluate demographic and clinical characteristics, enzyme activity levels, and genetic mutations at the time of diagnosis. |
2023-03-30 |
2023-08-14 |
Not clear |
| Jiali Fan, Changsheng Ma, Heng Wang, Bingyuan Zho. The value of myocardial work in patients with left ventricular hypertrophy. The international journal of cardiovascular imaging. 2023-03-16. PMID:36922462. |
left ventricular hypertrophy (lvh) is commonly detected in fabry disease (fd), cardiac amyloidosis (ca) and hypertension (htn). |
2023-03-16 |
2023-08-14 |
Not clear |
| Tuncay Güzel, Fatma Nihan Turhan Çağlar, Berkay Ekici, Mehmet Kış, Selvi Öztaş, Ahmet Öz, Gülay Gök, Zeynep Kolak, Ercan Akşit, Süleyman Anıl Sarıca, Murat Bayrak, Oğuzhan Birdal, Berat Uğuz, Mesut Gitmez, Gül İlayda Berk, Mustafa Oğuz, Ali Nazmi Çalık, Salih Kılıç, Mehdi Zoghi, Asım Oktay Ergen. Prevalence of Fabry Disease in patients with left ventricular hypertrophy in Turkey: Multicenter study (LVH-TR subgroup analysis). The international journal of cardiovascular imaging. 2023-03-15. PMID:36920623. |
prevalence of fabry disease in patients with left ventricular hypertrophy in turkey: multicenter study (lvh-tr subgroup analysis). |
2023-03-15 |
2023-08-14 |
Not clear |
| Tuncay Güzel, Fatma Nihan Turhan Çağlar, Berkay Ekici, Mehmet Kış, Selvi Öztaş, Ahmet Öz, Gülay Gök, Zeynep Kolak, Ercan Akşit, Süleyman Anıl Sarıca, Murat Bayrak, Oğuzhan Birdal, Berat Uğuz, Mesut Gitmez, Gül İlayda Berk, Mustafa Oğuz, Ali Nazmi Çalık, Salih Kılıç, Mehdi Zoghi, Asım Oktay Ergen. Prevalence of Fabry Disease in patients with left ventricular hypertrophy in Turkey: Multicenter study (LVH-TR subgroup analysis). The international journal of cardiovascular imaging. 2023-03-15. PMID:36920623. |
in this prospective study we aimed to determine the rate of fabry disease (fd) in patients with left ventricular hypertrophy (lvh), and to evaluate the clinical presentations of patients with fd in a comprehensive manner. |
2023-03-15 |
2023-08-14 |
Not clear |
| Jong Bin Choi, Dong-Won Seol, Hyo-Sang Do, Hee-Young Yang, Taek-Min Kim, Youkyeong Gloria Byun, Jae-Min Park, Jinhyuk Choi, Seon Pyo Hong, Won-Suk Chung, Jae Myoung Suh, Gou Young Koh, Beom Hee Lee, Gabbine Wee, Yong-Mahn Ha. Fasudil alleviates the vascular endothelial dysfunction and several phenotypes of Fabry disease. Molecular therapy : the journal of the American Society of Gene Therapy. 2023-02-09. PMID:36755495. |
fabry disease (fd), a lysosomal storage disorder, is caused by defective α-galactosidase (gla) activity, which results in the accumulation of globotriaosylceramide (gb3) in endothelial cells and leads to life-threatening complications such as left ventricular hypertrophy (lvh), renal failure, and stroke. |
2023-02-09 |
2023-08-14 |
mouse |
| Samuela Carigi, Luisa De Gennaro, Piero Gentile, Renata De Maria, Giovanna Di Giannuario, Georgette Khoury, Vincenzo Polizzi, Mauro Gori, Francesco Orso, Maria Denitza Tinti, Giuseppe Leonardi, Antonello D'Andrea, Francesca Mantovani, Valeria Pergola, Granit Rabia, Alessia Gimelli, Massimiliano Rizzo, Marco Campana, Marco Marini, Fabrizio Oliva, Furio Colivicch. [Ten questions on cardiac magnetic resonance in patients with heart failure: from etiological diagnosis to prognostic stratification]. Giornale italiano di cardiologia (2006). vol 23. issue 12. 2022-12-12. PMID:36504209. |
in patients with heart failure with preserved ejection fraction, cmr offers the possibility of diagnosing specific phenotypes, including sarcomeric hypertrophic cardiomyopathy, amyloidosis or fabry disease, and adds prognostic information. |
2022-12-12 |
2023-08-14 |
Not clear |
| Yoo Jin Hong, Young Jin Ki. [The Role of Cardiac MRI in the Diagnosis of Fabry Disease]. Taehan Yongsang Uihakhoe chi. vol 81. issue 2. 2022-10-14. PMID:36237382. |
fabry disease is a rare x-linked metabolic disorder that is characterized by the accumulation of glycosphingolipids in various organs, resulting from the deficiency of alpha-galactosidase a. cardiac involvement is relatively common; myocardial inflammation, left ventricular hypertrophy, and myocardial fibrosis secondary to abnormal lipid deposition in myocytes are often observed. |
2022-10-14 |
2023-08-14 |
Not clear |
| David Zemánek, Jaroslav Januška, Tomáš Honěk, Karol Čurila, Miloš Kubánek, Štěpánka Šindelářová, Lucie Zahálková, Petr Klofáč, Eliška Laštůvková, Eva Lichnerová, Renata Aiglová, Jan Lhotský, Jiří Vondrák, Gabriela Dostálová, Miloš Táborský, David Kasper, Aleš Linhar. Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic. ESC heart failure. 2022-09-10. PMID:36087038. |
nationwide screening of fabry disease in patients with hypertrophic cardiomyopathy in czech republic. |
2022-09-10 |
2023-08-14 |
Not clear |
| Yiting Lu, Peng Fan, Xianliang Zho. IDENTIFICATION OF A GROSS DELETION MUTATION OF GLA GENE IN A FABRY DISEASE FAMILY CHARACTERIZED BY ATRIAL FIBRILLATION AND MYOCARDIAL HYPERTROPHY. Journal of hypertension. vol 40. issue Suppl 1. 2022-08-26. PMID:36027211. |
identification of a gross deletion mutation of gla gene in a fabry disease family characterized by atrial fibrillation and myocardial hypertrophy. |
2022-08-26 |
2023-08-14 |
Not clear |
| Yiting Lu, Peng Fan, Xianliang Zho. IDENTIFICATION OF A GROSS DELETION MUTATION OF GLA GENE IN A FABRY DISEASE FAMILY CHARACTERIZED BY ATRIAL FIBRILLATION AND MYOCARDIAL HYPERTROPHY. Journal of hypertension. vol 40. issue Suppl 1. 2022-08-26. PMID:36027211. |
herein, we reported a chinese family with fabry disease predominantly characterized by atrial fibrillation and myocardial hypertrophy. |
2022-08-26 |
2023-08-14 |
Not clear |
| Francesca Graziani, Rosa Lillo, Elena Biagini, Giuseppe Limongelli, Camillo Autore, Maurizio Pieroni, Chiara Lanzillo, Leonardo Calò, Maria Beatrice Musumeci, Gessica Ingrasciotta, Matteo Minnucci, Raffaello Ditaranto, Alessandra Milazzo, Chiara Zocchi, Marta Rubino, Gaetano Antonio Lanza, Iacopo Olivotto, Filippo Cre. Myocardial infarction with non-obstructive coronary arteries in hypertrophic cardiomyopathy vs Fabry disease. International journal of cardiology. 2022-08-05. PMID:35931207. |
myocardial infarction with non-obstructive coronary arteries in hypertrophic cardiomyopathy vs fabry disease. |
2022-08-05 |
2023-08-14 |
Not clear |
| Francesca Graziani, Rosa Lillo, Elena Biagini, Giuseppe Limongelli, Camillo Autore, Maurizio Pieroni, Chiara Lanzillo, Leonardo Calò, Maria Beatrice Musumeci, Gessica Ingrasciotta, Matteo Minnucci, Raffaello Ditaranto, Alessandra Milazzo, Chiara Zocchi, Marta Rubino, Gaetano Antonio Lanza, Iacopo Olivotto, Filippo Cre. Myocardial infarction with non-obstructive coronary arteries in hypertrophic cardiomyopathy vs Fabry disease. International journal of cardiology. 2022-08-05. PMID:35931207. |
little is known about prevalence and predictors of myocardial infarction with non-obstructive coronary arteries (minoca) in fabry disease (fd) and hypertrophic cardiomyopathy (hcm). |
2022-08-05 |
2023-08-14 |
Not clear |