Restrictive cardiomyopathy

Definition:

Restrictive cardiomyopathy (RCM) is an uncommon heart muscle disorder characterized by impaired ventricular filling and increased stiffness of the myocardium with diastolic dysfunction, resulting in atrial enlargement and elevated systemic and pulmonary venous pressure. To date, mutations have been identified in the cardiac genes.

References:

[1]. Aldrin V Gomes, et al. Molecular and cellular aspects of troponin cardiomyopathies. Ann N Y Acad Sci. 2004 May;1015:214-24. [Content Brief]

[2]. Andreas Brodehl, et al. Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. Hum Mutat. 2016 Mar;37(3):269-79. [Content Brief]

[3]. Enkhsaikhan Purevjav, et al. Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. Hum Mol Genet. 2012 May 1;21(9):2039-53. [Content Brief]

[4]. J P Kaski, et al. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart. 2008 Nov;94(11):1478-84. [Content Brief]

[5]. Jacoba J Louw, et al. Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings. PLoS Genet. 2018 Jan 22;14(1):e1007138. [Content Brief]

[6]. Michelle S Parvatiyar, et al. Cardiac troponin mutations and restrictive cardiomyopathy. J Biomed Biotechnol. 2010;2010:350706. [Content Brief]

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