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Publications

Case Reports Journal Article Ppublish

PubMed: 42530187 DOI: 10.1016/j.jaccas.2026.109438

This ECG Does Not Fit: Rethinking Left Ventricular Hypertrophy.

JACC Case Rep 31(30):109438

Authors: Carlotta Perini Schweiger, Giuseppe Allocca, Giorgia Gugelmo, Livia Lenzini, Alberto Cipriani, Martina Perazzolo Marra, Domenico Corrado, Nicola Vitturi, Gianni Carraro, Laura De Michieli

Affiliations

  • Department of Cardiac-thoracic-vascular sciences and Public health, University of Padua, Padua, Italy.
  • Department of Cardiology, S Maria dei Battuti Hospital, Conegliano, Italy.
  • Division of Metabolic Diseases, Department of Medicine, University of Padova-Padova University Hospital, Padua, Italy.
  • Department of Medicine-DIMED, University Hospital, Padua, Italy.
  • Nephrology, Dialysis and Transplantation Unit, Department of Medicine, University of Padova-Padova University Hospital, Padua, Italy.
  • Department of Cardiac-thoracic-vascular sciences and Public health, University of Padua, Padua, Italy.

Abstract

BACKGROUND

Anderson-Fabry disease (AFD) is a rare cause of left ventricular hypertrophy (LVH) that can be challenging to diagnose, particularly when comorbidities are present.

CASE SUMMARY

We report a 70-year-old man with controlled hypertension, diabetes mellitus, chronic kidney disease, prior percutaneous coronary intervention on the left anterior descending artery, evaluated for progressive LVH and electrocardiogram (ECG) changes during follow-up. ECG showed an atypical pattern with right bundle branch block. Cardiac magnetic resonance then demonstrated reduced native T1 values. Genetic testing identified the p.N215S (p.Asn215Ser) GLA mutation, confirming late-onset AFD. Disease-specific management was subsequently initiated.

DISCUSSION

Late-onset AFD is frequently underdiagnosed, particularly in older patients with multiple cardiovascular comorbidities. Careful ECG analysis may provide key diagnostic clues and prompt advanced imaging and genetic testing.

TAKE-HOME MESSAGES

AFD should be considered in older patients with unexplained LVH. Careful evaluation of ECG abnormalities may be sufficient to trigger targeted, second-level, diagnostic tests.

MeSH

Diabetes Mellitus, Research Design, Comorbidity, Hypertrophy, Left Ventricular, Hypertrophy, Diagnosis, Cardiomyopathies, Fabry Disease, Electrocardiography