致心律不整性右室發育不良
Genomic coordinate (human 14:75,958,097 TGFB3 ).
Cytoband (human 14q24.3 TGFB3 white-color).
OMIM’ genes @ 14q24.3 = 74 genes.
ClinVar = 731 TGFB3 variants reported.
PANTHER Classification of TGFB3 “Growth Factor” PC00112.
Butterfly 🦋 curve-plot of chromosome-14, “genes-per-cytoband” consists of 599 total-genes.
Chromosome Structure: WCWCCWBG2BG4B2G2
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Here I 🎁 present: “Arrhythmogenic Right Ventricular Dysplasia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. TGBF3
INTRODUCTION.
Arrhythmogenic Right Ventricular Dysplasia (ARVD) is an inherited heart muscle disorder that primarily affects the right ventricle. It is characterized by the gradual death of normal heart muscle cells, which are progressively replaced by fatty and fibrous scar tissue. This structural change disrupts the heart’s electrical signaling network, leading to potentially life-threatening irregular heartbeats (arrhythmias). ARVD is notable for being a leading cause of sudden cardiac arrest (SCA) in young people and athletes.
Arrhythmogenic Right Ventricular Dysplasia is caused by mutation in the “transformation growth factor beta-3 (TGBF3) gene located on cytoband 14q24.3 in humans.
