Skip to main content
main-content
Top

Tip

Swipe om te navigeren naar een ander artikel

26-02-2019 | Original Article | Uitgave 4/2019 Open Access

Netherlands Heart Journal 4/2019

Phospholamban cardiomyopathy: a Canadian perspective on a unique population

Tijdschrift:
Netherlands Heart Journal > Uitgave 4/2019
Auteurs:
C. C. Cheung, J. S. Healey, R. Hamilton, D. Spears, M. H. Gollob, G. Mellor, C. Steinberg, S. Sanatani, Z. W. Laksman, A. D. Krahn
Belangrijke opmerkingen

Electronic supplementary material

The online version of this article (https://​doi.​org/​10.​1007/​s12471-019-1247-0) contains supplementary material, which is available to authorized users.

Abstract

Introduction

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.

Methods

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.

Results

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.

Discussion

Among Canadian patients with phospholamban cardiomyopathy, clinical manifestations resembled those of their Dutch counterparts, with increasing age a major predictor of disease manifestation. Older mutation carriers were more likely to have electrical and structural abnormalities, and may represent variable expressivity, age-dependent penetrance, or genetic heterogeneity among Canadian patients.

Onze productaanbevelingen

Netherlands Heart Journal

Het Netherlands Heart Journal wordt uitgegeven in samenwerking met de Nederlandse Vereniging voor Cardiologie en de Nederlandse Hartstichting. Het tijdschrift is Engelstalig en wordt gratis beschikbaa ...

Extra materiaal
Supplementary Table 1 Disease manifestations among R14del-positive patients
12471_2019_1247_MOESM1_ESM.docx
Literatuur
Over dit artikel

Andere artikelen Uitgave 4/2019

Netherlands Heart Journal 4/2019 Naar de uitgave

Rhythm Puzzle – Answer

Left bundle, right diagnosis

Original Article – Design Study Article

Extra energy for hearts with a genetic defect: ENERGY trial