Arrhythmogenic Right Ventricular Displasia

RATIONALE: Naturally occurring mutations in the cardiac ryanodine receptor (RyR2) have been associated with both cardiac arrhythmias and cardiomyopathies. It is clear that delayed afterdepolarization resulting from abnormal activation of sarcoplasmic reticulum Ca2+ release is the primary cause of RyR2-associated cardiac arrhythmias. However, the mechanism underlying RyR2-associated cardiomyopathies is completely unknown. OBJECTIVE: In the present study, we investigate the role of the NH2-terminal region of RyR2 in and the impact of a number of cardiomyopathy-associated RyR2 mutations on the termination of Ca2+ release...

Arrhythmogenic right ventricular displasia (ARVD) is a heart disease characterized by a total or partial fat replacement of the myocardium. Echocardiography, which has been most commonly used for the diagnosis of ARVD, usually only demonstrates right ventricular enlargement with associated hypokinesia and with normal left ventricular chamber size. Angiocardiography is very effective in the evaluation of ARVD, especially, in the detection of wall motion abnormalities and bulgings. However, angiocardiography is invasive...