1,721,065 research outputs found
Sudden cardiac death risk prediction in Fabry disease: How many strings do we have on our bow?
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Integrated Sudden Cardiac Death Risk Prediction Model For Patients With Hypertrophic Cardiomyopathy
No full textLetter by Monda and Limongelli Regarding Article, “Changes in Cardiac Function Following Fulminant Myocarditis”
No full textHeart failure with preserved ejection fraction: the need for a better genetic characterization
No full textThe role of genetic testing in Marfan syndrome
No full textPurpose of reviewThis review aims to delineate the genetic basis of Marfan syndrome (MFS) and underscore the pivotal role of genetic testing in the diagnosis, differential diagnosis, genotype-phenotype correlations, and overall disease management.Recent findingsThe identification of pathogenic or likely pathogenic variants in the FBN1 gene, associated with specific clinical features such as aortic root dilatation or ectopia lentis, is a major diagnostic criterion for MFS. Understanding genotype-phenotype correlations is useful for determining the timing of follow-up, guiding prophylactic aortic root surgery, and providing more precise information to patients and their family members during genetic counseling. Genetic testing is also relevant in distinguishing MFS from other conditions that present with heritable thoracic aortic diseases, allowing for tailored and individualized management.SummaryGenetic testing is essential in different steps of the MFS patients' clinical pathway, starting from the phase of diagnosis to management and specific treatment
Sudden cardiac death risk prediction in arrhythmogenic right ventricular cardiomyopathy: the challenge of complex statistical modelling and its impact in clinical practice
No full textThis commentary refers to `Arrhythmic risk prediction in arrhythmogenic right ventricular cardiomyopathy: external validation of the arrhythmogenic right ventricular cardiomyopathy risk calculator', by P. Jorda, https://doi.org/10.1093/ eurheartj/ehac289 and the discussion piece `Sudden cardiac death risk prediction in arrhythmogenic right ventricular cardiomyopathy: a practical approach to navigating the challenges of prediction models', by J. Cadrin-Tourigny et al., https://doi.org/10.1093/eurheartj/ehac562
Letter by Monda and Limongelli Regarding Article, “The Prevalence and Association of Exercise Test Abnormalities With Sudden Cardiac Death and Transplant-Free Survival in Childhood Hypertrophic Cardiomyopathy”
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