Gene: [14q2/ARVD1] arrhythmogenic right ventricular dysplasia 1; [ARVD ]
|
PAT |
[1] Autosomal dominant arrhythmogenic right ventricular dysplasia (ARVD) is
a
genetically heterogeneous cardiomyopathy that often causes sudden death
in juveniles and athletes.
[2] ARVD is due to a degenerative process involving the myocardium of the right ventricle, where focal necrosis of muscle cells is followed by adipose and connective tissue replacement. The process is progressive and extends gradually to the whole ventricle wall, which becomes thinner than normal. Ventricular arrhythmias may develop because of the electrical instability caused by the presence of these patches of adipose and connective tissue. The most important electrocardiographic abnormalities in ARVD subjects are T-wave inversion in the right precordial leads and the presence of late potentials in signal-averaging ECG. [3] Diagnostic criteria were outlined by McKenna et al. (McKenna-1994)." |
|
CAG |
Four loci for ARVD had been mapped: ARVD1 to 14q23-q24, ARVD2 to 1q42-q43 (GEM:01q4/ARVD2), ARVD3 to 14q12-q22 (GEM:14q/ARVD3), and ARVD4 to 2q32.1-q32.3 (GEM:02q32/ARVD4)." |
|
REF |
PAT,LIN,LOC "Rampazzo A &: Hum Mol Genet, 3, 959-962, 1994 |
|
CLA |
unknown, basic |
|
LOC |
14 q23-24 |
|
MIM |
MIM: 107970 |
|
SYN |
ARVD |
