Cardiac conduction disease with or without dilated cardiomyopathy

Definition:

Cardiac conduction disease with or without dilated cardiomyopathy (CCDD) is an autosomal dominant syndrome characterized by conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy. TNNI3K mutation in this disease has been reported. The TNNI3K gene encodes the protein TNNI3 interacting kinase which is located at the sarcomere Z disc. It may play a crucial role in cardiac physiology.

References:

[1]. Jeanne L Theis, et al. TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy. Hum Mol Genet. 2014 Nov 1;23(21):5793-804. [Content Brief]

[2]. Liang-Liang Fan, et al. Whole exome sequencing identifies a novel mutation (c.333 + 2T > C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease. Gene. 2018 Mar 30;648:63-67. [Content Brief]

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