The value of electrocardiography and echocardiography in distinguishing Fabry disease from sarcomeric hypertrophic cardiomyopathy.
Archives of Cardiovascular Diseases. 2020-08-01; 113(8-9): 542-550
DOI: 10.1016/j.acvd.2020.04.008
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1. Arch Cardiovasc Dis. 2020 Aug – Sep;113(8-9):542-550. doi:
10.1016/j.acvd.2020.04.008. Epub 2020 Aug 6.
The value of electrocardiography and echocardiography in distinguishing
Fabry disease from sarcomeric hypertrophic cardiomyopathy.
Junqua N(1), Legallois D(2), Segard S(1), Lairez O(3), Réant P(4), Goizet C(5),
Maillard H(6), Charron P(7), Milliez P(2), Labombarda F(8).
Author information:
(1)Department of Cardiology, Caen University Hospital, 14000 Caen, France.
(2)Department of Cardiology, Caen University Hospital, 14000 Caen, France; EA
4650 (Signalisation, électrophysiologie et imagerie des lésions
d’ischémie-reperfusion myocardique), Medical School, Caen-Normandie University
(UNICAEN), Caen University Hospital, 14000 Caen, France.
(3)Department of Cardiology, Rangueil University Hospital, Rangueil Medical
School, University Paul-Sabatier, 31400 Toulouse, France.
(4)Department of Cardiology, Bordeaux University Hospital, 33000 Bordeaux,
France; INSERM U1045, Bordeaux University, IHU Liryc, 33604 Pessac, France.
(5)Department of Medical Genetics, Bordeaux University Hospital, Laboratoire
MRGM, INSERM Unit 1211, University of Bordeaux, 33076 Bordeaux, France.
(6)Department of Internal Medicine, Claude Huriez Hospital, University of Lille,
59000 Lille, France.
(7)Centre de référence pour les maladies cardiaques héréditaires, INSERM UMR_S
1166 and Institute for Cardiometabolism and Nutrition (ICAN), Pitié-Salpêtrière
University Hospital, Sorbonne University, 75013 Paris, France.
(8)Department of Cardiology, Caen University Hospital, 14000 Caen, France; EA
4650 (Signalisation, électrophysiologie et imagerie des lésions
d’ischémie-reperfusion myocardique), Medical School, Caen-Normandie University
(UNICAEN), Caen University Hospital, 14000 Caen, France. Electronic address:
.
BACKGROUND: Screening for Fabry disease is sub-optimal in non-specialised
centres.
AIM: To assess the diagnostic value of electrocardiographic scores of left
ventricular hypertrophy and a combined electrocardiographic and echocardiographic
model in Fabry disease.
METHODS: We retrospectively reviewed the electrocardiograms and echocardiograms
of 61 patients (mean age 55.6±11.5 years; 57% men) with Fabry disease and left
ventricular hypertrophy, and compared them with those from 59 patients (mean age
44.8±18.3 years; 66% men) with sarcomeric hypertrophic cardiomyopathy. Six
electrocardiography criteria for left ventricular hypertrophy were specifically
analysed: Sokolow-Lyon voltage index; Cornell voltage index; Gubner index;
Romhilt-Estes score; Sokolow-Lyon product (voltage index×QRS duration); and
Cornell product (voltage index×QRS duration).
RESULTS: Right bundle branch block was more frequent in patients with Fabry
disease (54% vs. 22%; P=0.001). QRS duration, Gubner score and Sokolow-Lyon
product were significantly higher in patients with Fabry disease. Maximal wall
thickness was higher in patients with sarcomeric hypertrophic cardiomyopathy
(21.9±5.1 vs. 15.5±2.9mm; P