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Myocardial fibrosis as an early feature in phospholamban p.Arg14del mutation carriers
- Source :
- European heart journal cardiovascular Imaging, 20(1), 92-100. Oxford University Press, European Heart Journal-Cardiovascular Imaging, 20(1), 92-100. Oxford University Press
- Publication Year :
- 2019
-
Abstract
- Aims: The p.Arg14del founder mutation in the gene encoding phospholamban (PLN) is associated with an increased risk of malignant ventricular arrhythmia (VA) and heart failure. It has been shown to lead to calcium overload, cardiomyocyte damage, and eventually to myocardial fibrosis. This study sought to investigate ventricular function, the extent and localization of myocardial fibrosis and the associations with ECG features and VA in PLN p.Arg14del mutation carriers. Methods and results: Cardiovascular magnetic resonance (CMR) data of 150 mutation carriers were analysed retrospectively. Left ventricular (LV) and right ventricular (RV) volumes, mass, and ejection fraction were measured. The extent of late gadolinium enhancement (LGE) was expressed as a percentage of myocardial mass. All standard ECG parameters were measured. Occurrence of VA was analysed on ambulatory 24-h and/or exercise electrocardiography, if available. Mean age was 40 ± 15 years, 42% males, and 7% were index patients while 93% were pre-symptomatic carriers identified after family cascade screening. Mean LV ejection fraction (LVEF) and RV ejection fraction were 58 ± 9% and 55 ± 9%, respectively. LV-LGE was present in 91% of mutation carriers with reduced LVEF (
- Subjects :
- Male
PROGNOSIS
Contrast Media
030204 cardiovascular system & hematology
GUIDELINES
Electrocardiography
Ventricular Dysfunction, Left
0302 clinical medicine
Fibrosis
Medicine
phospholamban
Netherlands
CARDIOLOGY
Ejection fraction
medicine.diagnostic_test
LATE GADOLINIUM ENHANCEMENT
Dilated cardiomyopathy
General Medicine
ASSOCIATION
Middle Aged
arrhythmogenic cardiomyopathy
Phospholamban
Phenotype
Cardiology
cardiovascular system
HEART
Female
Cardiomyopathies
Cardiology and Cardiovascular Medicine
Adult
medicine.medical_specialty
Magnetic Resonance Imaging, Cine
electrocardiogram
03 medical and health sciences
cardiovascular magnetic resonance
Meglumine
Linear gingival erythema
Internal medicine
Image Interpretation, Computer-Assisted
Organometallic Compounds
Humans
Genetic Predisposition to Disease
Radiology, Nuclear Medicine and imaging
cardiovascular diseases
Retrospective Studies
ventricular arrhythmia
business.industry
Myocardium
Calcium-Binding Proteins
fibrosis
medicine.disease
DILATED CARDIOMYOPATHY
Heart failure
Mutation
Tachycardia, Ventricular
Myocardial fibrosis
business
Subjects
Details
- Language :
- English
- ISSN :
- 20472404
- Volume :
- 20
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- European Heart Journal - Cardiovascular Imaging
- Accession number :
- edsair.doi.dedup.....bdb4eb7eb0985932c8af4ea213d9296f