Heart transplantation in two adolescents with Danon disease.
Daniel OrenPeter ChauMelanie ManningJoann KwongBeth D KaufmanKatsuhide MaedaDavid N RosenthalSeth A HollanderPublished in: Pediatric transplantation (2018)
Danon disease (DD) is an X-linked dominant disorder caused by a mutation in the lysosomal-associated membrane protein-2 (LAMP-2) gene coding for the LAMP-2 protein. We report two cases of successful heart transplantation (HT) in adolescent brothers with DD, including one who was bridged to HT for 34 days with a HeartWare left ventricular assist device. In both patients, the post-transplant course was complicated by profound skeletal muscle weakness that resolved with corticosteroid withdrawal. These cases highlight that both HT and ventricular assist device support are feasible in patients with DD. Corticosteroid use may exacerbate skeletal myopathy, and therefore, steroid minimization may be warranted whenever possible.
Keyphrases
- left ventricular assist device
- skeletal muscle
- young adults
- end stage renal disease
- newly diagnosed
- ejection fraction
- chronic kidney disease
- heart failure
- physical activity
- loop mediated isothermal amplification
- mental health
- insulin resistance
- prognostic factors
- genome wide
- copy number
- dna methylation
- gene expression
- patient reported outcomes
- adipose tissue
- atrial fibrillation
- quantum dots
- transcription factor
- genome wide identification