Familial-genetic dilated cardiomyopathy (Q42357): Difference between revisions
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Revision as of 08:50, 13 August 2026
Familial-genetic dilated cardiomyopathy is the presence of dilated cardiomyopathy that is present in multiple members of a pedigree, or in the presence of a genetic mutation known to be significantly associated with dilated cardiomyopathy. Additional information: Candidate cytoskeletal and Z disk–encoding genes, most of whom are hypothesized to lead to abnormalities in force transmission, include δ-sarcoglycan, β-sarcoglycan, desmin, lamin A/C, metavinculin, muscle LIM protein, titin, α-actinin-2, nebulette, myopalladin, and ZASP (Z band alternatively spliced PDZ domain protein)
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | BC43.00 |
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| English | Familial-genetic dilated cardiomyopathy |
Familial-genetic dilated cardiomyopathy is the presence of dilated cardiomyopathy that is present in multiple members of a pedigree, or in the presence of a genetic mutation known to be significantly associated with dilated cardiomyopathy. Additional information: Candidate cytoskeletal and Z disk–encoding genes, most of whom are hypothesized to lead to abnormalities in force transmission, include δ-sarcoglycan, β-sarcoglycan, desmin, lamin A/C, metavinculin, muscle LIM protein, titin, α-actinin-2, nebulette, myopalladin, and ZASP (Z band alternatively spliced PDZ domain protein) |
