Screening of fabry disease in patients with left ventricular hypertrophy: a single-center study in Mexico
6 affiliations
- 1Cardiomyopathy Clinic, Instituto Nacional de Cardiología Ignacio Chávez
- 2Cardiac Magnetic Resonance Department, Instituto Nacional de Cardiología Ignacio Chávez
- 3Echocardiography Department, Instituto Nacional de Cardiología Ignacio Chávez
- 4Cardiogenetics Clinic, Instituto Nacional de Cardiología Ignacio Chávez
- 5Publications Department, Instituto Nacional de Cardiología ignacio Chávez
- 6Horizon Clinical Research Group, Pulmonology Division, HCA North Cypress
Abstract
Background Fabry disease (FD) is an X-linked sphingolipidosis caused by enzyme α-Galactosidase A (α-Gal A) deficiency due to pathogenic variants in GLA gene. Progressive glycosphingolipid accumulation leads to subsequent myocyte injury, which frequently induces concentric remodeling and manifests as left ventricular hypertrophy (LVH). This study aims to describe the prevalence of FD in patients with LVH diagnosis in a Mexican population. Methods Consecutive and unrelated patients with echocardiographic evidence of left ventricular hypertrophy (LVH) without known cause were screened for FD in a Mexican cardiology referral center. Globotriaosylsphingosine (lyso-Gb3) levels and α-Gal A activity were measured using the dry blood spot method in all male individuals. Patients with positive dried blood spot testing and female patients were confirmed by single-gene sequencing. Results 205 patients with LVH (48.5 ± 18.7 years) were included. Of these, 53% were male, 60% were in NYHA functional class I, and 43% were asymptomatic. Dyspnea was the most frequently reported symptom, occurring in 26% of cases. Among study participants, three women were diagnosed with FD (1.5%). GLA gene sequencing revealed two pathogenic variants, NM_000169.3(GLA):c.559 A > G (p.Met187Val) and NM_000169.3(GLA):c.679 C > T (p.Arg227Ter), and a variant of unknown significance (VUS) reclassificated to a likely pathogenic variant NM_000169.3(GLA):c.122 C > G (p.Thr41Ser). Cascade screening identified three additional women with FD. Conclusion These results emphasize the need for genetic screening for FD in female individuals with LVH. Further studies are needed to understand genotype-phenotype correlations in females with genetic variants in the GLA gene, particularly those with VUS and novel variants, as they pose challenges for diagnosis and treatment.
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BibTeX
@article{gutierrez2026screening,
title = {{Screening of fabry disease in patients with left ventricular hypertrophy: a single-center study in Mexico}},
author = {Dante Palacios Gutierrez and Gabriela Meléndez-Ramirez and Edith Liliana Posada Martínez and Blanca Rebeca Ibarra-Ibarra and Solange Gabriela Koretzky and Maria Cecilia Escalante Seyffert and Francisco Javier Roldán Gómez and Aloha Meave Gonzalez Ramirez and Lucía de Montserrat Sabido González and Daniel Vera Ibarra and Juan Luis Ortiz Herrera and Karla Vázquez Fernández and Daniela Ramirez de Jesús and Enrique Alexander Berrios Barcenas},
journal = {Orphanet Journal of Rare Diseases},
year = {2026},
month = jul,
doi = {10.1186/s13023-026-04506-z},
url = {https://doi.org/10.1186/s13023-026-04506-z},
note = {CC BY},
}
RIS
TY - JOUR
TI - Screening of fabry disease in patients with left ventricular hypertrophy: a single-center study in Mexico
AU - Dante Palacios Gutierrez
AU - Gabriela Meléndez-Ramirez
AU - Edith Liliana Posada Martínez
AU - Blanca Rebeca Ibarra-Ibarra
AU - Solange Gabriela Koretzky
AU - Maria Cecilia Escalante Seyffert
AU - Francisco Javier Roldán Gómez
AU - Aloha Meave Gonzalez Ramirez
AU - Lucía de Montserrat Sabido González
AU - Daniel Vera Ibarra
AU - Juan Luis Ortiz Herrera
AU - Karla Vázquez Fernández
AU - Daniela Ramirez de Jesús
AU - Enrique Alexander Berrios Barcenas
PY - 2026
DA - 2026/07/01
JO - Orphanet Journal of Rare Diseases
DO - 10.1186/s13023-026-04506-z
UR - https://doi.org/10.1186/s13023-026-04506-z
AB - Background Fabry disease (FD) is an X-linked sphingolipidosis caused by enzyme α-Galactosidase A (α-Gal A) deficiency due to pathogenic variants in GLA gene. Progressive glycosphingolipid accumulation leads to subsequent myocyte injury, which frequently induces concentric remodeling and manifests as left ventricular hypertrophy (LVH). This study aims to describe the prevalence of FD in patients with LVH diagnosis in a Mexican population. Methods Consecutive and unrelated patients with echocardiographic evidence of left ventricular hypertrophy (LVH) without known cause were screened for FD in a Mexican cardiology referral center. Globotriaosylsphingosine (lyso-Gb3) levels and α-Gal A activity were measured using the dry blood spot method in all male individuals. Patients with positive dried blood spot testing and female patients were confirmed by single-gene sequencing. Results 205 patients with LVH (48.5 ± 18.7 years) were included. Of these, 53% were male, 60% were in NYHA functional class I, and 43% were asymptomatic. Dyspnea was the most frequently reported symptom, occurring in 26% of cases. Among study participants, three women were diagnosed with FD (1.5%). GLA gene sequencing revealed two pathogenic variants, NM_000169.3(GLA):c.559 A > G (p.Met187Val) and NM_000169.3(GLA):c.679 C > T (p.Arg227Ter), and a variant of unknown significance (VUS) reclassificated to a likely pathogenic variant NM_000169.3(GLA):c.122 C > G (p.Thr41Ser). Cascade screening identified three additional women with FD. Conclusion These results emphasize the need for genetic screening for FD in female individuals with LVH. Further studies are needed to understand genotype-phenotype correlations in females with genetic variants in the GLA gene, particularly those with VUS and novel variants, as they pose challenges for diagnosis and treatment.
SN - 1750-1172
ER -