Presentation
Skin
- Hyperkeratosis
KRT1 Striate palmoplantar keratoderma 3 Epidermolytic hyperkeratosis IHCM KRT2E (Ichthyosis bullosa of Siemens) KRT3 (Meesmann juvenile epithelial corneal dystrophy) KRT4 (White sponge nevus) KRT5 (Epidermolysis bullosa simplex) KRT8 (Familial cirrhosis [en.wikipedia.org]
Urogenital
- Kidney Failure
Bakris, G.L. (2003) Kidney failure and cardiovascular disease. Circulation, 108(16): 114e [ CR ] [ PM ] [ EČ ][ 3 ][ GS ] Goldsmith, D.J., Covic, A. (2001) Coronary artery disease in uremia: Etiology, diagnosis, and therapy. [scindeks.ceon.rs]
Workup
Blocks
- 2:1 Atrioventricular Block
Timothy syndrome may include a functional 2/1 atrioventricular block, due to an exceedingly long QT interval5,19,48. [romanianjournalcardiology.ro]
Rhythm
- Torsades De Pointes
The onset of the pause-dependent torsade de pointes. VPB ventricular premature beat. Data in references 30,32. [romanianjournalcardiology.ro]