2023 ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of …

E Arbelo, A Protonotarios, JR Gimeno… - European heart …, 2023 - academic.oup.com
• The specific situation of the patient. Unless otherwise provided for by national regulations,
off-label use of medication should be limited to situations where it is in the patient's interest …

Cardiomyopathy in children: classification and diagnosis: a scientific statement from the American Heart Association

SE Lipshultz, YM Law, A Asante-Korang, ED Austin… - Circulation, 2019 - Am Heart Assoc
In this scientific statement from the American Heart Association, experts in the field of
cardiomyopathy (heart muscle disease) in children address 2 issues: the most current …

Pediatric cardiomyopathies

TM Lee, DT Hsu, P Kantor, JA Towbin… - Circulation …, 2017 - Am Heart Assoc
Pediatric cardiomyopathies are rare diseases with an annual incidence of 1.1 to 1.5 per 100
000. Dilated and hypertrophic cardiomyopathies are the most common; restrictive …

TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure–function relationships

B Wei, JP Jin - Gene, 2016 - Elsevier
Troponin T (TnT) is a central player in the calcium regulation of actin thin filament function
and is essential for the contraction of striated muscles. Three homologous genes have …

Mechanisms of disease: hypertrophic cardiomyopathy

N Frey, M Luedde, HA Katus - Nature Reviews Cardiology, 2012 - nature.com
Hypertrophic cardiomyopathy (HCM) is the most-common monogenically inherited form of
heart disease, characterized by thickening of the left ventricular wall, contractile dysfunction …

Mutations in Troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function?

RH Willott, AV Gomes, AN Chang, MS Parvatiyar… - Journal of molecular and …, 2010 - Elsevier
Troponin (Tn) is a critical regulator of muscle contraction in cardiac muscle. Mutations in Tn
subunits are associated with hypertrophic, dilated and restrictive cardiomyopathies …

Genetic restrictive cardiomyopathy: causes and consequences—an integrative approach

D Cimiotti, H Budde, R Hassoun, K Jaquet - International Journal of …, 2021 - mdpi.com
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 …

[PDF][PDF] RASopathy-associated cardiomyopathy

A Albakri - Int Med Care, 2019 - m.script-one.com
RASopathies are a family of developmental disorders that share germline mutations in the
components of the RAS-MAPK pathway leading to dysregulated signalling. A high …

Molecular genetics and pathogenesis of cardiomyopathy

A Kimura - Journal of human genetics, 2016 - nature.com
Cardiomyopathy is defined as a disease of functional impairment in the cardiac muscle and
its etiology includes both extrinsic and intrinsic factors. Cardiomyopathy caused by the …

Pediatric restrictive cardiomyopathies

R Ditaranto, AG Caponetti, V Ferrara, V Parisi… - Frontiers in …, 2022 - frontiersin.org
Restrictive cardiomyopathy (RCM) is the least frequent phenotype among pediatric heart
muscle diseases, representing only 2.5–3% of all cardiomyopathies diagnosed during …