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Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling

open access: yesReviews in Cardiovascular Medicine, 2022
Restrictive cardiomyopathy (RCM), a potentially devastating heart muscle disorder, is characterized by diastolic dysfunction due to abnormal muscle relaxation and myocardial stiffness resulting in restrictive filling of the ventricles.
Enkhsaikhan Purevjav
exaly   +4 more sources

Restrictive cardiomyopathy: definition and diagnosis [PDF]

open access: yesEuropean Heart Journal, 2022
Restrictive cardiomyopathy (RCM) is a heterogeneous group of diseases characterized by restrictive left ventricular pathophysiology, i.e. a rapid rise in ventricular pressure with only small increases in filling volume due to increased myocardial ...
Andrea Barison, Alberto Aimo
exaly   +3 more sources

Genetic Restrictive Cardiomyopathy: Causes and Consequences—An Integrative Approach

open access: yesInternational Journal of Molecular Sciences, 2021
The sarcomere as the smallest contractile unit is prone to alterations in its functional, structural and associated proteins. Sarcomeric dysfunction leads to heart failure or cardiomyopathies like hypertrophic (HCM) or restrictive cardiomyopathy (RCM ...
Diana Cimiotti   +2 more
exaly   +2 more sources

Genetic Insights into Primary Restrictive Cardiomyopathy

open access: yesJournal of Clinical Medicine, 2022
Restrictive cardiomyopathy is a rare cardiac disease causing severe diastolic dysfunction, ventricular stiffness and dilated atria. In consequence, it induces heart failure often with preserved ejection fraction and is associated with a high mortality ...
Andreas Brodehl, Brenda Gerull
exaly   +2 more sources

Hypertrophic Cardiomyopathy and Primary Restrictive Cardiomyopathy: Similarities, Differences and Phenocopies

open access: yesJournal of Clinical Medicine, 2021
Hypertrophic cardiomyopathy (HCM) and primary restrictive cardiomyopathy (RCM) have a similar genetic background as they are both caused mainly by variants in sarcomeric genes.
Alberto Cipriani, Cristina Basso
exaly   +2 more sources

Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children

open access: yesCirculation Genomic and Precision Medicine, 2023
BACKGROUND: Restrictive cardiomyopathy in children is rare and outcomes are very poor. However, little information is available concerning genotype-outcome correlations.
Kogaki Shigetoyo, Hidekazu Ishida
exaly   +2 more sources

Focus on Paediatric Restrictive Cardiomyopathy: Frequently Asked Questions [PDF]

open access: yesDiagnostics, 2023
Restrictive cardiomyopathy (RCM) is characterized by restrictive ventricular pathophysiology determined by increased myocardial stiffness. While suspicion of RCM is initially raised by clinical evaluation and supported by electrocardiographic and ...
Mattia Zampieri   +16 more
doaj   +2 more sources

Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy

open access: yesCirculation: Cardiovascular Genetics, 2017
Background— Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by impaired diastolic ventricular function resulting in a poor clinical prognosis.
Mark Lindsay   +2 more
exaly   +2 more sources

Case Report: Filamin C gene mutation associated with restrictive cardiomyopathy leading to heart transplantation [PDF]

open access: yesFrontiers in Transplantation
BackgroundCardiomyopathy is a disease that affects the myocardium and can be classified as dilated, restrictive, or hypertrophic cardiomyopathy. Among the subtypes, restrictive cardiomyopathy is characterized by restriction of ventricular filling and its
Ludmila De Oliveira Jaime Sales   +4 more
doaj   +2 more sources

Pediatric restrictive cardiomyopathy: a case report [PDF]

open access: yesJournal of International Medical Research, 2023
Restrictive cardiomyopathy (RCM) is a rare childhood cardiomyopathy that is a challenging diagnostic problem for clinicians. We describe a case of an 8-year-old girl with a 2-year history of shortness of breath on exertion.
Hai-Long Dai   +4 more
doaj   +2 more sources

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