Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2015 Feb;12(2):419-22.
doi: 10.1016/j.hrthm.2014.10.035. Epub 2014 Oct 31.

CALM3 mutation associated with long QT syndrome

Griffin J Reed  1 , Nicole J Boczek  2 , Susan P Etheridge  3 , Michael J Ackerman  4
Affiliations
Case Reports

CALM3 mutation associated with long QT syndrome

Griffin J Reed et al. Heart Rhythm. 2015 Feb.
No abstract available

Keywords: Arrhythmia; CALM3; Calcium channel inactivation; Calmodulin; Genetics; Long QT syndrome.

PubMed Disclaimer

Conflict of interest statement

Conflicts of Interest:

Michael J. Ackerman is a consultant for Boston Scientific, Gilead Sciences, Medtronic, and St. Jude Medical and receives sales based royalties from Transgenomic for their FAMILION-LQTS and FAMILION-CPVT genetic tests. The other authors have no conflicts of interest relevant to this article to disclose.

Figures

Figure 1
Figure 1. Electrocardiograms of the Proband
(A) ECG taken at 1 day of age showing extreme QT prolongation (QTc = 690 ms), 2:1 atrioventricular block, bradycardia (59 bpm), and T wave alternans. (B) ECG at 5 weeks of age showing QT prolongation (QTc = 586 ms) at a normal heart rate (111 bpm) and resolution of the 2:1 AV block. (C) ECG at 6 months of age showing marked QT prolongation (QTc = 556 ms).
Figure 2
Figure 2. Familial Electrocardiograms, WES Filtering Strategy, and Mutation Confirmation
(A) Pedigree of family utilized for WES, including ECGs for the mother and father of the proband, showing normal corrected QT intervals. (B) Filtering strategy utilized for WES, separated by inheritance pattern, to include filtering for sporadic inheritance (left) and recessive inheritance (right). Some variants were identified in both sequencing strategies; please see Table 1 for more information regarding the identified variants. (C) DNA Sanger sequencing confirmation of the p.D130G mutation in the proband (lower) and the p.D130G mutation’s absence in the parents (upper), supporting a sporadic inheritance pattern.
See this image and copyright information in PMC

Comment in

  • Calmodulinopathy: a genetic trilogy.
    George AL Jr. George AL Jr. Heart Rhythm. 2015 Feb;12(2):423-4. doi: 10.1016/j.hrthm.2014.11.017. Epub 2014 Nov 18. Heart Rhythm. 2015. PMID: 25460856 No abstract available.

References

    1. Go AS, Mozaffarian D, Roger VL, et al. Executive summary: heart disease and stroke statistics-2014 update: a report from the American Heart Association. Circulation. 2014 Jan 21;129:399–410. - PubMed
    1. Schwartz PJ, Ackerman MJ. The long QT syndrome: a transatlantic clinical approach to diagnosis and therapy. Eur Heart J. 2013 - PubMed
    1. Schwartz PJ, Stramba-Badiale M, Crotti L, et al. Prevalence of the congenital long-QT syndrome. Circulation. 2009;120:1761–1767. - PMC - PubMed
    1. Boczek NJ, Best JM, Tester DJ, Giudicessi JR, Middha S, Evans JM, Kamp TJ, Ackerman MJ. Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Circ Cardiovasc Genet. 2013;6:279–289. - PMC - PubMed
    1. Szperl AM, Ricano-Ponce I, Li JK, et al. Exome sequencing in a family segregating for celiac disease. Clin Genet. 2011;80:138–147. - PubMed

Publication types