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Case Reports
. 2016 Mar 16;2(3):250-254.
doi: 10.1016/j.hrcr.2016.02.002. eCollection 2016 May.

Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy

Marie-A Chaix  1   2 , Tamara T Koopmann  3 , Philippe Goyette  1 , Azadeh Alikashani  1 , Frédéric Latour  1 , Meena Fatah  3 , Robert M Hamilton  3 , John D Rioux  1   2
Affiliations
Case Reports

Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy

Marie-A Chaix et al. HeartRhythm Case Rep. .
No abstract available

Keywords: CALM3; Calmodulin; Long QT syndrome; Whole exome sequencing.

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Figures

Figure 1
Figure 1
Electrocardiogram (ECG) recordings of subjects 1 and 2. ECGs of subject 1 A: recorded at birth, showing an extreme QTc interval (623 ms) and a 2:1 atrioventricular block (P waves indicated by black arrows), B: at 1 day of age, showing a sinus bradycardia (heart rate of 92 beats per minute [bpm]) and an extreme QTc interval prolongation (645 ms), and C: at 12 years, showing an extreme QTc interval prolongation (566 ms) and an atrial paced rhythm. ECGs of subject 2 recorded D: at 3 days of age, showing a sinus bradycardia (heart rate at 83 bpm) and an extreme QTc interval prolongation (627 ms); and E: at 15 years, showing ventricular paced rhythm at 90 bpm alternating with sinus conducted beats and a QTc interval that remains long (480 ms).
Figure 2
Figure 2
Schematic model of calmodulin and long QT syndrome (LQTS) mutations. Schematic presentation of the calmodulin amino acid sequence showing the N-terminal and C-terminal domains, each containing 2 Ca2+ binding motifs (in orange). The locations of all published CALM1 (red), CALM2 (purple) and CALM3 (*,**,~) LQTS mutations are shown. The CALM3 mutations p.Asp96His and p.Phe142Leu were identified in this study.
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