Heart failure & cardiomyopathies
Desmoplakin Cardiomyopathy in Pediatric Patients: A Distinct, Underrecognized Cohort of Arrhythmogenic Cardiomyopathy
Authors' conclusion
DSP cardiomyopathy in children and adolescents has varied phenotypic manifestations based on age and genotype and often can be diagnosed as myocarditis. Severe left ventricular dysfunction and biventricular involvement may be associated with a higher likelihood of malignant ventricular tachyarrhythmia.
Study context
- Population
- Patients <21 years with DSP pathogenic or likely pathogenic variants
- Participants
- 34 patients
- Exposure
- Probands vs Genotype-positive phenotype-negative
- Probandsn = 10
- Genotype-positive phenotype-negativen = 24
Methodological detailsmulticentre, 6 tertiary pediatric hospitals
- Multicentre
- 6 tertiary pediatric hospitals
Main finding
As reported in the abstract
Phenotypic features of probands
- Initially diagnosed with myocarditis
- 50%
- Biventricular disease
- 60%
- LV predominant disease
- 40%
- Chest pain at presentation (most common symptom)
- 30%
- Troponin elevation
- all
Observational data: associations, not effects.
Further findings
Appropriate ICD therapy among those with ICD implantation
- Received appropriate ICD therapy; had significant biventricular involvement and severe LV dysfunction (EF <35%)
- 50%
Original publication
Desmoplakin Cardiomyopathy in Pediatric Patients: A Distinct, Underrecognized Cohort of Arrhythmogenic Cardiomyopathy. Circ Arrhythm Electrophysiol. Published 11 November 2024. doi:10.
Summarised from the published abstract; every number is checked against it