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Dilated cardiomyopathy

Definition:

Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death from ventricular arrhythmia. Genetically inherited forms of DCM ("familial" DCM) have been identified in 25-35% of patients presenting with this disease, and the inherited gene defects are an important cause of "familial" DCM. The pathophysiology may be separated into two categories: defects in force generation and defects in force transmission. In cases where an underlying pathology cannot be identified, the patient is diagnosed with an "idiopathic" DCM. Current hypotheses regarding causes of "idiopathic" DCM focus on myocarditis induced by enterovirus and subsequent autoimmune myocardium impairments. Antibodies to the beta1-adrenergic receptor (beta1AR), which are detected in a substantial number of patients with "idiopathic" DCM, may increase the concentration of intracellular cAMP and intracellular Ca2+, a condition often leading to a transient hyper-performance of the heart followed by depressed heart function and heart failure.

References:

[1]. Anne-Karin Arndt, et al. Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. Am J Hum Genet. 2013 Jul 11;93(1):67-77. [Content Brief]

[2]. Aviva Levitas, et al. Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. Eur J Hum Genet. 2010 Oct;18(10):1160-5. [Content Brief]

[3]. Diane Fatkin, et al. Molecular mechanisms of inherited cardiomyopathies. Physiol Rev. 2002 Oct;82(4):945-80. [Content Brief]

[4]. Edward G Jones, et al. Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy. Sci Rep. 2019 Jun 21;9(1):9038. [Content Brief]

[5]. Jeanne L Theis, et al. Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. Circ Cardiovasc Genet. 2011 Dec;4(6):585-94. [Content Brief]

[6]. Maximilian G Posch, et al. A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. Mol Genet Metab. 2008 Sep-Oct;95(1-2):74-80. [Content Brief]

[7]. Mythily Ganapathi, et al. Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis. Hum Genet. 2020 Nov;139(11):1443-1454. [Content Brief]

[8]. Ralph Knöll, et al. Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells. Circulation. 2007 Jul 31;116(5):515-25. [Content Brief]

[9]. Ray E Hershberger, et al. Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals. Genet Med. 2010 Nov;12(11):655-67. [Content Brief]

[10]. S Franciosi, et al. Nexilin: a potential novel factor contributing to dilated cardiomyopathy. Clin Genet. 2010 Jun;77(6):535-6. [Content Brief]

[11]. Takuro Arimura, et al. Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy. Circ J. 2009 Jan;73(1):158-61. [Content Brief]

[12]. Thomas Meyer, et al. Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy. Eur J Hum Genet. 2013 Mar;21(3):294-300. [Content Brief]

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