Frontiers in Cardiovascular Medicine (Jun 2023)
Electrocardiogram analysis in Anderson-Fabry disease: a valuable tool for progressive phenotypic expression tracking
- V. Parisi,
- V. Parisi,
- R. Baldassarre,
- R. Baldassarre,
- V. Ferrara,
- R. Ditaranto,
- R. Ditaranto,
- F. Barlocco,
- R. Lillo,
- F. Re,
- G. Marchi,
- C. Chiti,
- F. Di Nicola,
- F. Di Nicola,
- C. Catalano,
- C. Catalano,
- L. Barile,
- L. Barile,
- M. A. Schiavo,
- M. A. Schiavo,
- A. Ponziani,
- A. Ponziani,
- G. Saturi,
- G. Saturi,
- A. G. Caponetti,
- A. G. Caponetti,
- A. Berardini,
- A. Berardini,
- M. Graziosi,
- M. Graziosi,
- F. Pasquale,
- F. Pasquale,
- I. Salamon,
- M. Ferracin,
- E. Nardi,
- I. Capelli,
- I. Capelli,
- I. Capelli,
- D. Girelli,
- J. R. Gimeno Blanes,
- M. Biffi,
- M. Biffi,
- N. Galiè,
- N. Galiè,
- N. Galiè,
- I. Olivotto,
- F. Graziani,
- E. Biagini,
- E. Biagini
Affiliations
- V. Parisi
- Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
- V. Parisi
- Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy
- R. Baldassarre
- Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
- R. Baldassarre
- Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy
- V. Ferrara
- Unità Ospedaliera Cardiologia, Azienda Sanitaria Territoriale Pesaro Urbino, Fano, Italy
- R. Ditaranto
- Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
- R. Ditaranto
- Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy
- F. Barlocco
- Department of Experimental and Clinical Medicine, Careggi University Hospital, University of Florence, Florence, Italy
- R. Lillo
- Department of Cardiovascular Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
- F. Re
- Cardiology Department, San Camillo-Forlanini Hospital, Rome, Italy
- G. Marchi
- Internal Medicine Unit and MetabERN Health Care Provider, Azienda Ospedaliera Universitaria Integrata di Verona, Verona, Italy
- C. Chiti
- Department of Experimental and Clinical Medicine, Careggi University Hospital, University of Florence, Florence, Italy
- F. Di Nicola
- Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
- F. Di Nicola
- Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy
- C. Catalano
- Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
- C. Catalano
- Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy
- L. Barile
- Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
- L. Barile
- Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy
- M. A. Schiavo
- Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
- M. A. Schiavo
- Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy
- A. Ponziani
- Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
- A. Ponziani
- Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy
- G. Saturi
- Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
- G. Saturi
- Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy
- A. G. Caponetti
- Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
- A. G. Caponetti
- Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy
- A. Berardini
- Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
- A. Berardini
- European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Bologn, Italy
- M. Graziosi
- Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
- M. Graziosi
- European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Bologn, Italy
- F. Pasquale
- Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
- F. Pasquale
- European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Bologn, Italy
- I. Salamon
- Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy
- M. Ferracin
- Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy
- E. Nardi
- Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy
- I. Capelli
- Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy
- I. Capelli
- Nephrology, Dialysis and Renal Transplant Unit, IRCCS, Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
- I. Capelli
- 0European Rare Kidney Disease Reference Network-ERKNet, Bologna, Italy
- D. Girelli
- Internal Medicine Unit and MetabERN Health Care Provider, Azienda Ospedaliera Universitaria Integrata di Verona, Verona, Italy
- J. R. Gimeno Blanes
- 1Inherited Cardiac Disease Unit, University Hospital Virgen de la Arrixaca, Murcia, Spain
- M. Biffi
- Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
- M. Biffi
- European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Bologn, Italy
- N. Galiè
- Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
- N. Galiè
- Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy
- N. Galiè
- European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Bologn, Italy
- I. Olivotto
- 2Department of Experimental and Clinical Medicine, University of Florence, Meyer University Children Hospital and Careggi University Hospital, Florence, Italy
- F. Graziani
- Department of Cardiovascular Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
- E. Biagini
- Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
- E. Biagini
- European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Bologn, Italy
- DOI
- https://doi.org/10.3389/fcvm.2023.1184361
- Journal volume & issue
-
Vol. 10
Abstract
BackgroundElectrocardiogram (ECG) has proven to be useful for early detection of cardiac involvement in Anderson-Fabry disease (AFD); however, little evidence is available on the association between ECG alterations and the progression of the disease.Aim and MethodsTo perform a cross sectional comparison of ECG abnormalities throughout different left ventricular hypertrophy (LVH) severity subgroups, providing ECG patterns specific of the progressive AFD stages. 189 AFD patients from a multicenter cohort underwent comprehensive ECG analysis, echocardiography, and clinical evaluation.ResultsThe study cohort (39% males, median age 47 years, 68% classical AFD) was divided into 4 groups according to different degree of left ventricular (LV) thickness: group A ≤ 9 mm (n = 52, 28%); group B 10–14 mm (n = 76, 40%); group C 15–19 mm (n = 46, 24%); group D ≥ 20 mm (n = 15, 8%). The most frequent conduction delay was right bundle branch block (RBBB), incomplete in groups B and C (20%,22%) and complete RBBB in group D (54%, p < 0.001); none of the patients had left bundle branch block (LBBB). Left anterior fascicular block, LVH criteria, negative T waves, ST depression were more common in the advanced stages of the disease (p < 0.001). Summarizing our results, we suggested ECG patterns representative of the different AFD stages as assessed by the increases in LV thickness over time (Central Figure). Patients from group A showed mostly a normal ECG (77%) or minor anomalies like LVH criteria (8%) and delta wave/slurred QR onset + borderline PR (8%). Differently, patients from groups B and C exhibited more heterogeneous ECG patterns: LVH (17%; 7% respectively); LVH + LV strain (9%; 17%); incomplete RBBB + repolarization abnormalities (8%; 9%), more frequently associated with LVH criteria in group C than B (8%; 15%). Finally, patients from group D showed very peculiar ECG patterns, represented by complete RBBB + LVH and repolarization abnormalities (40%), sometimes associated with QRS fragmentation (13%).ConclusionsECG is a sensitive tool for early identification and long-term monitoring of cardiac involvement in patients with AFD, providing “instantaneous pictures” along the natural history of AFD. Whether ECG changes may be associated with clinical events remains to be determined.
Keywords
- Anderson-Fabry disease
- cardiac involvement
- left ventricular hyperertrophy
- electrocardiogram (ECG)
- bundle branch block
- repolarization abnormalities
