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Case Reports
. 2017 Jan 27;3(4):219-223.
doi: 10.1016/j.hrcr.2017.01.007. eCollection 2017 Apr.

Atypical long QT syndrome phenotype in heterozygous/homozygous KCNQ1 Ala590Thr

Justin D Smith  1 , Jeffrey M Vinocur  1
Affiliations
Case Reports

Atypical long QT syndrome phenotype in heterozygous/homozygous KCNQ1 Ala590Thr

Justin D Smith et al. HeartRhythm Case Rep. .
No abstract available

Keywords: Genotype-phenotype correlation; Heterozygous; Homozygous; Long QT syndrome; Protein trafficking.

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Figures

Figure 1
Figure 1
Resting electrocardiograms from the proband. A: At age 3 years, with QTc 530 ms and marked repolarization abnormality. B: At age 8 years, with QTc 450 ms and nonspecific flattening of T waves.
Figure 2
Figure 2
Exercise stress test excerpts from the proband at age 8 years. A: At peak exercise, showing marked repolarization abnormality, QT prolongation, and T-wave alternans. B: At 4 minutes of recovery, showing even further QT prolongation with subtle T-wave alternans.
Figure 3
Figure 3
Resting electrocardiogram excerpts from the proband’s asymptomatic relatives, A: father, B: mother, C: brother, and D: sister, each showing normal QTc intervals in lead II (420, 420, 400, 410 ms, respectively). E: Abbreviated pedigree indicating the proband (arrow), the complex blood relationship between the proband’s parents, and a cousin who had died suddenly, also born to consanguineous parents. The pedigree is complete for the immediate families of the 2 symptomatic members but omits the very numerous more-distant relatives because of lack of detailed information and for simplicity (eg, the founding couple reportedly had at least 9 children, of which only 5 are shown).
See this image and copyright information in PMC

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