Phospholamban cardiomyopathy: a Canadian perspective on a unique population

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
C C CheungA D Krahn

Abstract

Phospholamban cardiomyopathy is an inherited cardiomyopathy, characterised by a defect in regulation of the sarcoplasmic reticulum Ca2+ pump, often presenting with malignant arrhythmias and progressive cardiac dysfunction occurring at a young age. Phospholamban R14del mutation carriers and family members were identified from inherited arrhythmia clinics at 13 sites across Canada. Cardiac investigations, including electrocardiograms, Holter monitoring (premature ventricular complexes, PVCs), and imaging results were summarised. Fifty patients (10 families) were identified (median age 30 years, range 3-71, 46% female). Mutation carriers were more likely to be older, have low-voltage QRS, T‑wave inversion, frequent PVCs, and cardiac dysfunction, compared to unaffected relatives. Increasing age, low-voltage QRS, T‑wave inversion, late potentials, and frequent PVCs were predictors of cardiac dysfunction (p < 0.05 for all). Older carriers (age ≥45 years) were more likely to have disease manifestations than were their younger counterparts, with disease onset occurring at an older age in Canadian patients and their Dutch counterparts. Among Canadian patients with phospholamban cardiomyopathy, clinical manifestations resembled those of ...Continue Reading

References

Mar 1, 2003·Science·Joachim P SchmittChristine E Seidman
Jan 25, 2006·Proceedings of the National Academy of Sciences of the United States of America·Kobra HaghighiEvangelia G Kranias
Mar 28, 2009·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Maximilian G PoschCemil Ozcelik
Dec 14, 2011·Journal of Molecular and Cellular Cardiology·Kobra HaghighiEvangelia G Kranias
Jun 10, 2014·Circulation. Cardiovascular Genetics·Ingrid A W van RijsingenArthur A M Wilde
Sep 25, 2014·Biochimica Et Biophysica Acta·Vitaly V VostrikovGianluigi Veglia
Mar 17, 2015·Proceedings of the National Academy of Sciences of the United States of America·Jonggul KimGianluigi Veglia
Jan 20, 2017·Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation·C J M van OpbergenT A B van Veen
Apr 4, 2017·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Shahrzad SepehrkhouyAryan Vink

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle, that can lead to muscular or electrical dysfunction of the heart. It is often an irreversible disease that is associated with a poor prognosis. There are different causes and classifications of cardiomyopathies. Here are the latest discoveries pertaining to this disease.

Related Papers

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
I E HofP A Doevendans
Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme
M TadaM Yabuki
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc
Georges EphremPaul Schweitzer
Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme
M TadaY Kijima
© 2022 Meta ULC. All rights reserved