A cardiac arrhythmia syndrome caused by loss of ankyrin-B function
Population
Eight unrelated probands harboring ankyrin-B loss-of-function mutations, and ankyrin-B(+/-) cardiomyocytes
Design
Case_series
Authors
Discussion
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Member takes
Implication
May warrant ankyrin-B evaluation in unexplained arrhythmias without QT prolongation; leaves open broader adoption pending validation.
Structured PICO
P
Population
Eight unrelated probands harboring ankyrin-B loss-of-function mutations, and ankyrin-B(+/-) cardiomyocytes
O
Outcome
Clinical cardiac phenotype and cellular ion channel/transporter localization and function
Ankyrin-B loss-of-function mutations cause a distinct cardiac arrhythmia syndrome characterized by varying degrees of cardiac dysfunction without consistent QT prolongation, driven by abnormal coordination of multiple ion channels and transporters.
Cite This Study
Mohler et al. (2004) studied this question.