Key result
A total homozygous PKP2 deletion was identified as the genetic cause of severe left ventricular noncompaction cardiomyopathy in two siblings.
Why the study?
Is homozygous PKP2 deletion associated with severe neonatal left ventricular noncompaction cardiomyopathy?
Case Report (n=2)
Is homozygous PKP2 deletion associated with severe neonatal left ventricular noncompaction cardiomyopathy?
This study identifies for the first time that a homozygous PKP2 deletion is associated with severe neonatal left ventricular noncompaction cardiomyopathy.
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Homozygous PKP2 deletions merit consideration in severe familial LVNC; leaves open prevalence, penetrance, and clinical utility pending replication.
Ramond et al. (2016) conducted a case report in Left ventricular noncompaction cardiomyopathy (LVNC) (n=2). Homozygous PKP2 deletion was evaluated on Molecular diagnosis. A total homozygous PKP2 deletion was identified as the genetic cause of severe left ventricular noncompaction cardiomyopathy in two siblings.
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