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Atypical Presentation of Andersen-Tawil Syndrome: Heart Failure with Reduced Ejection without Periodic Paralysis or Dysmorphic Features.
Eur J Case Rep Intern Med
December 2024
Internal Medicine, Holy Family Hospital, Rawalpindi, Pakistan.
Background: Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder caused by variants in the gene. It is associated with periodic paralysis, dysmorphic features and cardiac arrhythmias. The syndrome exhibits incomplete penetrance, leading to a broad spectrum of clinical manifestations, making diagnosis challenging.
View Article and Find Full Text PDFChallenges in clinical translation of cardiac magnetic resonance imaging radiomics in non-ischemic cardiomyopathy: a narrative review.
Cardiovasc Diagn Ther
December 2024
The First Affiliated Hospital, Department of Cardiology, Hengyang Medical School, University of South China, Hengyang, China.
Background And Objective: Radiomics is an emerging technology that facilitates the quantitative analysis of multi-modal cardiac magnetic resonance imaging (MRI). This study aims to introduce a standardized workflow for applying radiomics to non-ischemic cardiomyopathies, enabling clinicians to comprehensively understand and implement this technology in clinical practice.
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Differential Expression Spectrum of circRNA in Plasma Exosomes in Dilated Cardiomyopathy With Heart Failure.
J Cell Mol Med
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Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Dilated cardiomyopathy (DCM), a form of non-ischaemic myocardial disease, is characterised by structural and functional cardiac abnormalities. As defined by the World Health Organisation, DCM constitutes a significant cardiac pathology, leading to increased morbidity and mortality due to complications such as heart failure and arrhythmias. The diagnostic process for DCM predominantly employs echocardiography and MRI, with biomarkers like NT-pro BNP and troponin providing supportive, yet non-specific, evidence.
View Article and Find Full Text PDFFour cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant.
Hum Genome Var
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DSG2, encoding desmoglein-2, is one of the causative genes of arrhythmogenic cardiomyopathy. We previously identified a homozygous DSG2 p.Arg119Ter stop-gain variant in a patient with juvenile-onset cardiomyopathy and advanced biventricular heart failure.
View Article and Find Full Text PDFBeyond the : Myocardial Late Gadolinium Enhancement, Not Left Ventricular Ejection Fraction, Is Associated With Events in Nonischemic Dilated Cardiomyopathy.
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