Table 2.
Phenocopies of hypertrophic cardiomyopathy.
| Syndrome | Gene | Protein | Locus | Frequency |
|---|---|---|---|---|
| Danon’s syndrome | LAMP2 | lysosome-associated membrane protein-2 | Xq24 | rare |
| Forbes disease (Glycogen Storage Disease Type 3) | AGL | Amylo-1,6-glucosidase | 1p21 | rare |
| Fabry’s disease (Lysosomal Storage Disorder) | GLA | a-Galactosidase A | Xq22 | <5% |
| Pompe Disease (Glycogen Storage Disease Type 2) | GAA | a-1,4-glucosidase deficiency | 17q25.2-q25.3 | rare |
| Noonan syndrome/LEOPARD syndrome | PTPN11 SOS1 RAFI |
v-Ki-ras2 Kirsten rat sarcoma viral oncogene Homolog Son of sevenless homolog 1 V-RAF-1 murine leukemia viral oncogene homolog 1 |
12q24.1 2p22-p21 3p25 |
rare rare |
| Friedreich’s ataxia | FXN | Frataxin | 9q13 | rare |
| Wolff-Parkinson-White syndrome | PRKAG2 | AMP-activated protein kinase | 7q35-q36.36 | <1% |
| Barth syndrome/left ventricular noncompaction | DTNA TAZ |
a-Dystrobrevin Tafazzin (G4.5) |
18q12 Xq28 |
rare |