Gap junctions and arrhythmogenic cardiomyopathy

Arrhythmogenic cardiomyopathy

Arrhythmogenic cardiomyopathy is an inherited heart muscle disorder, predisposing to sudden cardiac death, particularly in young patients and athletes. Pathological features include loss of myocytes and fibrofatty replacement of right ventricular myocardium; biventricular involvement is often observed. It is a cell-to-cell junction cardiomyopathy, typically caused by genetically determined abno...

Intercalated discs and arrhythmogenic cardiomyopathy.

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrythmogenic right ventricular (RV) cardiomyopathy (ARVC) is a cardiomyopathy characterized pathologically by fibrofatty replacement primarily of the RV and clinically by life-threatening ventricular arrhythmias in apparently healthy young people. The prevalence of the disease has been estimated at 1 in 5,000 individuals, although this estimate will likely increase as awareness of the conditio...

Arrhythmogenic left ventricular cardiomyopathy.

A 53-year-old white man was identified through family screening as having arrhythmogenic right ventricular cardiomyopathy caused by a frameshift mutation in the desmoplakin gene (DSP S1015fsX1017). Direct questioning revealed a previously undisclosed history of palpitations. The electrocardiogram (ECG) showed anterolateral T-wave inversion (Figure 1). Holter monitoring detected an asymptomatic ...

Left-Dominant Arrhythmogenic Cardiomyopathy

Background In the absence of coronary disease and left ventricular (LV) systolic dysfunction, lateral T-wave inversion and arrhythmia of LV origin are often considered benign. Similarly, chest pain with enzyme release might be attributed to viral myocarditis. We hypothesized that these abnormalities might be manifestations of the “left-dominant” subtype of arrhythmogenic right ventricular cardi...