Presentation
Entire Body System
- Coarctation of the Aorta
小児科臨床/71(10)/pp.1689-1694, 2018-10 Endothelial Dysfunction of Conduit Arteries in Patients with Repaired Coarctation of the Aorta Nozaki Yoshihiro; Nakayama-Inaba Kasumi; Ishizu Tomoko; I... [trios.tsukuba.ac.jp]
Gastrointestinal
- Choking
Choking-induced cardiac arrest unmasks a diagnosis of catecholaminergic polymorphic ventricular tachycardia. HeartRhythm Case Reports, Vol. 1, Issue. 6, p. 494. CrossRef Google Scholar Huang, Christopher L.-H. 2017. [cambridge.org]
Musculoskeletal
- Proximal Muscle Weakness
Related phenotypes are coma and proximal muscle weakness [malacards.org]
Neurologic
- Exercise-Induced Syncope
Patient 2 attended the clinic as an 11-year-old boy with exercise-induced syncope. The results of all conventional tests were normal, and therefore an implantable Holter device was deployed and polymorphic VT was detected. [revespcardiol.org]
The S616L mutation (Figure 3B ) occurred in a female adolescent with exercise-induced syncopal spells since the age of twelve. [bmcmedgenet.biomedcentral.com]
In 50% of our RYR2 probands exercise induced syncopal episodes were accompanied by seizures, which were probably convulsive movements owing to pan-cerebral hypoperfusion. [jmg.bmj.com]