Table 2. Genetic Causes of Dilated Cardiomyopathy.
| Gene | Locus | OMIM* | Gene Product | Frequency** | Allelic Disorders | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| AUTOSOMAL DOMINANT FDC | |||||||||||
| LMNA | 1q21.2-.3 | 150330 | lamin A/C | 4-8% | Lipodystrophy, Charcot-Marie-Tooth 2B1, Emery-Dreifuss muscular dystrophy, Hutchinson-Gilford progeria syndrome, limb girdle muscular dystrophy (LGMD) 1B | ||||||
| MYH7 | 14q12 | 160760 | β-myosin heavy chain | 4-6% | Laing distal myopathy, HCM | ||||||
| TNNT2 | 1q32 | 191045 | cardiac troponin T | 3% | HCM | ||||||
| SCN5A | 3p21 | 600163 | sodium channel | 2-3% | Long QT syndrome type 3, Brugada syndrome, idiopathic ventricular fibrillation, sick sinus syndrome, cardiac conduction system disease | ||||||
| MYH6 | 14q12 | 160710 | α-myosin heavy chain | ? 2-3% | HCM, dominantly inherited atrial septal defect | ||||||
| DES | 2q35 | 125660 | desmin | <1% - 1% | desminopathy, myofibrillar myopathy | ||||||
| VCL | 10q22.1-23 | 193065 | metavinculin | <1% - 1% | HCM | ||||||
| LDB3 | 10q22.2-23.3 | 605906 | LIM binding protein 3 | <1% - 1% | HCM, myofibrillar myopathy | ||||||
| TCAP | 17q12 | 604488 | titin-cap or telethonin | <1% - 1% | LGMD2G, HCM | ||||||
| PSEN1/PSEN2 | 14q24.3/1q31-q42 | 104311/600759 | presenilin 1 / 2 | <1% - 1% | Early-onset Alzheimer disease/Early- and late-onset Alzheimer disease | ||||||
| ACTC | 15q14 | 102540 | cardiac actin | <1% | HCM | ||||||
| TPM1 | 15q22.1 | 191010 | α-tropomyosin | <1% | HCM | ||||||
| SGCD | 5q33-34 | 601411 | δ-sarcoglycan | <1% | Delta sarcoglycanopathy (LGMD2F) | ||||||
| CSRP3 | 11p15.1 | 600824 | muscle LIM protein | <1% | HCM | ||||||
| ACTN2 | 1q42-q43 | 102573 | α-actinin-2 | <1% | N/A | ||||||
| ABCC9 | 12p12.1 | 601439 | SUR2A | <1% | N/A | ||||||
| TNNC1 | 3p21.3-p14.3 | 191040 | cardiac troponin C | <1% | N/A | ||||||
| TTN | 2q31 | 188840 | titin | ? | Udd distal myopathy; HCM; Edstrom myopathy; early onset myopathy with fatal cardiomyopathy | ||||||
| MYBPC3 | 11p11.2 | 600958 | myosin-binding protein C | ? | HCM | ||||||
| PLN | 6q22.1 | 172405 | phospholamban | ? | N/A | ||||||
| EYA4 | 6q23 | 603550 | eyes-absent 4 | ? | N/A | ||||||
| TMPO | 188380 | thymopoietin | ? | N/A | |||||||
| X-LINKED FDC | |||||||||||
| DMD | Xp21.2 | 300377 | dystrophin | ? | Dystrophinopathies (Duchenne muscular dystrophy, Becker muscular dystrophy) | ||||||
| TAZ/G4.5 | Xq28 | 300394 | tafazzin | ? | Barth syndrome, endocardial fibroelastosis type 2, familial isolated non-compaction of the left ventricular myocardium | ||||||
| AUTOSOMAL RECESSIVE FDC | |||||||||||
| TNNI3 | 19q13.4 | 191044 | Cardiac troponin I | <1% | HCM, restrictive cardiomyopathy | ||||||
*
OMIM is Online Mendelian Inheritance in Man, URL: http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim, where additional information for each gene can be found.
**
These estimates have been generated from primary and available secondary reports. See reference 3 for additional on-line gene-specific genetic testing information.