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Cardiac Anderson-Fabry disease: lessons from a 25-year-follow up

Dulce Brito1, Gabriel Miltenberger-Miltenyi2, Oana Moldovan3

  • 1Cardiology Department, Hospital Universitario de Santa Maria, Lisbon, Portugal; Lisbon Academic Medical Centre/Cardiovascular Centre of the University of Lisbon, Portugal.

Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology
|May 17, 2014
PubMed

Insights

A novel genetic mutation revealed Anderson-Fabry disease (AFD) in a patient initially diagnosed with hypertrophic cardiomyopathy (HCM). This finding has significant treatment and screening implications for AFD patients.

Area of Science:

  • Cardiology
  • Genetics
  • Rare Diseases

Background:

  • Sarcomeric hypertrophic cardiomyopathy (HCM) is a primary genetic cause of left ventricular hypertrophy with no targeted therapy.
  • Anderson-Fabry disease (AFD) is a rare multisystemic disorder that can present with cardiac symptoms mimicking HCM.

Observation:

  • A patient with a 25-year history of familial HCM and no identified sarcomeric mutations was studied.
  • Next-generation sequencing was employed for genetic analysis.

Findings:

  • A novel pathogenic mutation in the GLA gene was identified.
  • This mutation confirmed a diagnosis of previously unrecognized multisystemic Anderson-Fabry disease.

Implications:

  • Accurate diagnosis of AFD impacts patient prognosis and treatment strategies.
  • Genetic identification necessitates familial screening for Anderson-Fabry disease.
  • Distinguishing AFD from HCM is crucial for appropriate patient management.

Keywords:
Anderson-Fabry diseaseDoença de Anderson-FabryHypertrophic cardiomyopathyMiocardiopatia hipertróficaNext-generation sequencingSequenciação de nova geração

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