Heart failure & cardiomyopathiesResearch article
Clinical features and outcome of arrhythmogenic cardiomyopathy because of a desmoglein-2 founder variant: A multicenter study
- multicenter study
- 9 centers across China
Authors' conclusion
DSG2 c.T1592G (p.Phe531Cys) founder variant defines a distinct arrhythmogenic cardiomyopathy subset with a high prevalence of biventricular involvement. Single heterozygous variant carriers held a less severe phenotype and relatively favorable prognosis, whereas compound and homozygous variant carriers held an advanced phenotype and poorer prognosis.
Study context
- Population
- Individuals with DSG2 c.T1592G (p.Phe531Cys) variantssubjects included · single heterozygous 21 · compound 21 · homozygous 49
- Participants
- 91 individuals
- Comparison
- Compound and homozygous variant carriers compared with single heterozygous variant carriers
- single heterozygousn = 21
- compound heterozygous (compound)n = 21
- homozygousn = 49
Main finding
As reported in the abstract
Right ventricular dilatation
74.7%
Biventricular involvement
49.5%
Biventricular involvement among patients with contrast-enhanced magnetic resonance imaging
75.9%
Further findings
| Outcome | P value |
|---|---|
| Time to malignant ventricular arrhythmias (MVA) — homozygous vs compound · significantly earlier MVA in homozygous | P = 0.013 |
| Time to malignant ventricular arrhythmias (MVA) — homozygous vs single heterozygous · significantly earlier MVA in homozygous | P < 0.001 |
| Time to malignant ventricular arrhythmias (MVA) — compound vs single heterozygous · trend toward earlier MVA in compound | P = 0.089 |
Age at onset, T-wave inversion, epsilon waves, biventricular involvement
- Compound and homozygous variant carriers had a younger age at onset, more T-wave inversion, epsilon waves, and biventricular involvement than single heterozygous variant carriers
- all pairwise P < .05
End-stage heart failure and composite events
- Compound and homozygous variant carriers exhibited significantly higher incidences of end-stage heart failure and composite events, whereas single heterozygous variant carriers remained event-free
- all P < .05
Original publication
Summarised from the published abstract; every number is checked against it