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Anderson-Fabry Cardiomyopathy

A rare but important form of cardiac Fabry disease that mimics HCM.

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Kardiyoloji department. Book Appointment →

What is Anderson-Fabry Cardiomyopathy?

Anderson-Fabry cardiomyopathy is the cardiac manifestation of Fabry disease (alpha-galactosidase A deficiency). Gb3 accumulation in cardiomyocytes produces concentric left ventricular hypertrophy, fibrosis and arrhythmias.

Fabry accounts for 1–3% of patients thought to have hypertrophic cardiomyopathy. Female carriers can also be affected clinically.

Late gadolinium enhancement in the basal inferolateral segment on cardiac MRI is characteristic. Low native T1 values are diagnostic and useful for differential diagnosis.

Symptoms

Exertional dyspnea
Chest pain
Palpitations
Syncope
Arrhythmias
Heart failure
Extracardiac features of Fabry

Risk Factors

X-linked family history
Male sex
Positive GLA mutation
Extracardiac features
Characteristic skin findings
Renal involvement
Neuropathic pain

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Unexplained LVH
  • Family history of Fabry
  • HCM-mimicking features
  • Basal LGE on cardiac MRI
  • Combined renal, cardiac, cutaneous findings
  • Late-onset symptoms

Treatment Methods

01
Agalsidase alfa or beta ERT
02
Migalastat for amenable mutations
03
Heart failure therapy
04
Antiarrhythmic therapy
05
ICD in high-risk patients
06
Multidisciplinary Fabry center
07
Genetic counseling

Which Department to Visit?

You can visit our Kardiyoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.