DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy.
Krista HeliöTiia Kangas-KontioSini WeckströmSari U M VanninenKatriina Aalto-SetäläTero-Pekka AlastaloSamuel MyllykangasTiina M HeliöJuha W KoskenvuoPublished in: BMC medical genetics (2020)
The patients diagnosed with DCM showed an arrhythmogenic phenotype as well as SCD at young age supporting the recently proposed concept of arrhythmogenic cardiomyopathy. This study also demonstrates relatively low penetrance of truncating DSP variant in the probands' family members by the age of 40. Further studies are needed to elucidate the possible relations between myocardial inflammation and pathogenic DSP variants.
Keyphrases
- early onset
- left ventricular
- heart failure
- late onset
- end stage renal disease
- ejection fraction
- chronic kidney disease
- oxidative stress
- prognostic factors
- peritoneal dialysis
- acute myocardial infarction
- copy number
- gene expression
- patient reported outcomes
- left atrial
- atrial fibrillation
- case control
- cardiac resynchronization therapy
- percutaneous coronary intervention