This case report describes the late development of dilated cardiomyopathy in a child with familial long QT syndrome type 1 and a KCNQ1 mutation.
Alerts clinicians to monitor for late DCM in LQT1 children; leaves open causal link to KCNQ1 mutations.
Congenital long QT syndrome (LQTS) is an inherited cardiac channelopathy characterized by prolongation of the QT interval on electrocardiogram (ECG), and is associated with an increased risk of life-threatening ventricular arrhythmias. Mutations in over a dozen distinct genes have been implicated in the pathogenesis of this group of disorders.1 LQTS type 1 (LQT1), the most prevalent LQTS subtype, is characterized by a heterozygous loss-of-function mutation in the KCNQ1 gene, which codes for the α-subunit of the delayed rectifier inward potassium ion channel.
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Allen et al. (2015) studied this question.
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