Table 2 Extracardiac manifestations in patients with cardiomyopathy exhibiting syndromic disorders
From: Genetic heterogeneity of cardiomyopathy and its correlation with patient care
No | Gene | Cardiac manifestations | Extracardiac manifestations |
|---|---|---|---|
1 | LAMP2 | HCM | Danon disease, peripheral pigmentary retinopathy, and proximal muscle weakness |
2 | PTPN11 | HCM | Noonan syndrome, SNHL, Café au lait sports, hypertelorism, and flat nasal root |
3 | HRAS | HCM | Costello syndrome, macrocephaly, spare hair and eyebrow, short neck, epicanthal fold, proptosis, clenched hand, low set ear, micrognathia, widely spaced nipple, and cystic hygroma |
4 | MYH7 | HCM | Urothelial carcinoma |
5 | BRAF | HCM | Noonan syndrome, CFC, hypotonia fragile hair, low set ear, and webbed neck |
6 | PTPN11 | HCM | Noonan syndrome, ACC, exotropia, SDH, SAH, both renal mild hydronephrosis, large ASD, cryptorchidism, thrombocytopenia, hydrops |