“Arrhythmogenic Right Ventricular Dysplasia”, Victor McKusick, Mendelian Inheritance in Man, 1966. (ARVD4) 心律失常性右心室发育不良。

Here I present: “Arrhythmogenic Right Ventricular Dysplasia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ARVD4) 心律失常性右心室发育不良。

INTRODUCTION.

Arrhythmogenic means tending to produce arrhythmias. Arrhythmias are irregularities in the heartbeat, including when it is too fast or too slow.  A resting heart rate that is too fast – above 100 beats per minute in adults – is called tachycardia, and a resting heart rate that is too slow – below 60 beats per minute – is called bradycardia.

Familial arrhythmogenic right ventricular dysplasia-4 (ARVD4) is characterized by progressive degeneration of the myocardium of the right ventricle, with focal necrosis of muscle cells followed by adipose and connective tissue replacement. The left ventricle may be partially involved. Patches of replacement tissue result in electrical instability and arrhythmias. Patients experience syncopal episodes, and sudden death may occur.

There is evidence that arrhythmogenic right ventricular dysplasia-4 is caused by a mutation in the ARVD4 gene on cytogenetic location 2q32.1-q32.3 and genomic coordinates 2:182,100,001-196,600,000. The screenshot of the ARVD4 gene 14,500,000 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides ARVD4 in the 2q32.1-q32.3 cytogenetic location are listed BENEATH.