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
Apr 5, 2011·The Canadian Journal of Cardiology·Michael H GollobAnna Woo
Dec 14, 2011·Journal of Molecular and Cellular Cardiology·Kobra HaghighiEvangelia G Kranias
Jul 24, 2012·European Journal of Heart Failure·Paul A van der ZwaagJ Peter van Tintelen
Jul 23, 2013·The American Journal of Cardiology·Judith A GroenewegRichard N Hauer
Jun 10, 2014·Circulation. Cardiovascular Genetics·Ingrid A W van RijsingenArthur A M Wilde
Sep 17, 2014·PloS One·Eleri Hughes, David A Middleton
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
Apr 11, 2018·European Heart Journal Cardiovascular Imaging·Wouter P Te RijdtMaarten P van den Berg
Citations
May 30, 2020·Journal of Cardiovascular Development and Disease·Tyler L StevensPeter J Mohler
Jun 20, 2020·Scientific Reports·Tim R EijgenraamRudolf A de Boer
Feb 20, 2021·Journal of Cellular and Molecular Medicine·Zoë Joy van der KloosterAryan Vink
Feb 20, 2021·Computers in Biology and Medicine·Ricardo R LopesHenk A Marquering
Nov 23, 2020·JACC. Cardiovascular Imaging·Karim TahaArco J Teske
Jun 12, 2021·European Heart Journal·Tom E VerstraelenArthur A M Wilde