The MYH7 c.2770G > A (p.Glu924Lys) mutation exhibits phenotypic heterogeneity in hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM): a case report. [PDF]
Han Y +5 more
europepmc +3 more sources
Gene correction and overexpression of TNNI3 improve impaired relaxation in engineered heart tissue model of pediatric restrictive cardiomyopathy. [PDF]
Hasegawa M +13 more
europepmc +3 more sources
Clinical profile of restrictive cardiomyopathy in children at a South Indian tertiary care cardiac center: A retrospective three decade experience [PDF]
Kawoos G +7 more
europepmc +2 more sources
Restrictive cardiomyopathy and hypertrophic cardiomyopathy overlap: the importance of the phenotype
Restrictive cardiomyopathy (RCM) is defined on the basis of the haemodynamic finding of restrictive ventricular physiology. However, restrictive ventricular pathophysiology is also a feature of other subtypes of cardiomyopathy, including hypertrophic ...
Juan Pablo Kaski +4 more
doaj +1 more source
Generation of three TTN knock-out human induced pluripotent stem cell lines using CRISPR/Cas9 system
TTN mutations are the common genetic cause for various types of cardiomyopathies (e.g., dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy) and skeletal myopathies.
Ji-Young Kang +7 more
doaj +1 more source
Survival of patients with cardiomyopathies [PDF]
Cardiomyopathies are a heterogeneous group of diseases. The main pathogenetic mechanism is myocardial damage due to genetic mutations. Cardiomyopathies are one of the leading causes of heart failure, sudden cardiac death, and life-threatening arrhythmias.
Monika Shumkova +4 more
doaj +3 more sources
Isolated cardiac involvement due to deposition of desmin is a rare cause of restrictive cardiomyopathy due to pathogenic mutation in desmin related genes.
Kalpana Kumari +3 more
doaj +1 more source
A Case of Rare Inherited Restrictive Cardiomyopathy With Severe Biatrial Enlargement
We describe a case of inherited restrictive cardiomyopathy in a patient presenting with severe biatrial enlargement. We review the evaluation and management of restrictive cardiomyopathy with a focus on genetic etiologies.
Navid A. Nafissi, MD +5 more
doaj +1 more source
Rhabdomyolysis in the Setting of Concomitant Use of Tafamidis, Atorvastatin, and Amiodarone
An 85-year-old women with transthyretin cardiac amyloidosis presented with generalized weakness, elevated liver function test levels, and creatinine kinase consistent with rhabdomyolysis 1 week after starting tafamidis.
Jessica Laird, BA +3 more
doaj +1 more source
Restrictive cardiomyopathy. Report of seven cases
Restrictive cardiomyopathy is a disease characterized by ventricular diastolic failure with elevation of end-dyastolic pressure and preserved systolic function.
Fonseca Sánchez Luis Alfonso +2 more
doaj +1 more source

