Cardiomyopathy_Paediatric

Gene: DES

Red List (low evidence)

not reviewed by ClinGen for association with HCM
OMIM does not list HCM as a phenotype asscoaiuted with DES
DES typically causes a cardiac phenotype (DCM or ARVC) in association with a skeletal myopathy.

PMID 29167554: identified a novel desmin missense mutation, Thr219Pro, in the homozygous state in a patient, who first manifested with hypertrophic cardiomyopathy and later progressed to general myopathy. His parents were heterozygous for the mutation, but showed no clinical abnormality, suggesting the recessive inheritance of the mutation. We here report a severe phenotype of hypertrophic cardiomyopathy preceded the onset of general myopathy caused by a novel homozygous missense mutation in the 1B alpha-helix domain of desmin

PMID 18504128: LV hypertrophy identified on cMRI which was not evident on echo, in 2 of 11 patients with desmin-related myopathy,

Created: 19 Jun 2020, 1:43 p.m. | Last Modified: 19 Jun 2020, 1:43 p.m.

Panel Version: 0.28

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
arrhythmogenic right ventricular cardiomyopathy, myofibrillar myopathy 1; dilated cardiomyopathy