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The gatekeeper images in hypertrophic cardiomyopathy: the role of native T1 mapping in Anderson-Fabry disease.
Monaldi Arch Chest Dis
December 2024
Cardiology Division, Regina Montis Regalis Hospital, ASLCN1, Mondovì.
We presented a case of a 49-year-old presenting with atypical chest pain and hypertrophic phenotype cardiomyopathy without coronary artery disease. At cardiac magnetic resonance (CMR), the left ventricle was of normal volumes and preserved global ejection fraction with an asymmetric wall hypertrophy. The evaluation of native myocardial T1 has been calculated at an average global value of 924 ms, compatible with hypertrophic phenotype cardiomyopathy with reduced native T1 values as observed in Anderson-Fabry disease.
View Article and Find Full Text PDFEchocardiography-guided percutaneous intramyocardial septal radiofrequency ablation procedure for the treatment of Fabry disease: a case report.
Eur Heart J Case Rep
January 2025
Xijing Hypertrophic Cardiomyopathy Center, Department of Ultrasound, Xijing Hospital, Airforce Military Medical University, Xi'an, Shaanxi 710032, China.
Background: This is a case report of a patient with Fabry disease (FD). We successfully treated a patient with ventricular septal hypertrophy and left ventricular outflow tract (LVOT) obstruction caused by FD. We report our exclusive new surgery for patients with LVOT obstruction, percutaneous intramyocardial septal radiofrequency ablation (PIMSRA) procedure™ (percutaneous intramyocardial septal radiofrequency ablation).
View Article and Find Full Text PDFSodium-glucose cotransporter 2 inhibitors reduce albuminuria in patients with Fabry disease: a real-world case series.
Intern Med J
December 2024
Department of Nephrology, The Royal Melbourne Hospital, Melbourne, Victoria, Australia.
Background: Fabry disease is a rare X-linked multisystem disease, with progressive proteinuric kidney disease contributing significantly to morbidity and mortality of these patients. Evidence shows that sodium-glucose cotransporter 2 inhibitors (SGLT2Is) can reduce proteinuria and slow progression to end-stage kidney disease in both diabetic and non-diabetic kidney disease.
Aim: Evaluate the effects of SGLT2I on kidney function and albuminuria in patients with Fabry disease.
Recurrent left ventricular thrombus after the direct surgical thrombectomy in Fabry disease.
J Cardiol Cases
December 2024
Department of Thoracic and Cardiovascular Surgery, Osaka Medical and Pharmaceutical University, Osaka, Japan.
Unlabelled: A 60-year-old woman with a recent history of presumed cardiogenic cerebral infarction was referred for surgical removal of a left ventricular mass. She was diagnosed with Fabry disease eight years before. Transthoracic echocardiography showed a mobile echogenic mass in the left ventricular apex.
View Article and Find Full Text PDFInferolateral Fibrosis in a Nonhypertrophic Left Ventricle.
JACC Case Rep
November 2024
Amsterdam UMC location of the University of Amsterdam, Department of Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands.
A 62-year-old recreational cyclist presented with transient loss of consciousness and common electrocardiographic findings. Despite absence of left ventricular hypertrophy, multidisciplinary evaluation and a positive family history led to the diagnosis of non-classical Fabry disease. This case emphasizes the added value of multidisciplinary analysis of nonspecific findings to diagnose a rare disease.
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