Article
Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis.
Cold Spring Harbor molecular case studies - 1 Oct 2020
Sanford Erica, Jones Marilyn C, Brigger Matthew, Hammer Monia, Giudugli Lucia, Kingsmore Stephen F, Dimmock David, Bainbridge Matthew N
Abstract excerpt
Biallelic variants in inorganic pyrophosphatase 2 (PPA2) are known to cause infantile sudden cardiac failure (OMIM #617222), but relatively little is known about phenotypic variability of these patients prior to their death. We report a 5-wk-old male with bilateral vocal cord paralysis and hypertension who had a sudden unexpected cardiac death. Subsequently, molecular autopsy via whole-genome sequencing from...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.