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New Fabry disease mutation confirms cardiomyopathy aetiology: a case report
Sebastian Militaru1,2, Adrian Saftoiu2, Berthold Streubel3
1Department of Cardiology, Emergency Institute for Cardiovascular Diseases 'Prof. Dr C. C. Iliescu', Şos. Fundeni no 258, Bucharest, Romania.
Insights
Early diagnosis of Fabry disease (FD) in women is crucial. This case highlights how hypertrophic cardiomyopathy (HCM) can be an initial sign of FD, prompting genetic testing and specific enzyme therapy.
Area of Science:
- Cardiology
- Genetics
- Rare Diseases
Background:
- Aetiologic diagnosis is vital for cardiomyopathy patients who may benefit from specific treatments.
- Identifying clinical and paraclinical 'red flags' is key to diagnosis.
Observation:
- A 55-year-old woman with hypertrophic cardiomyopathy (HCM), hypertension, and dyslipidaemia presented with acroparesthaesia.
- Investigations revealed elevated troponin and BNP, chronic kidney disease, and ECG/echocardiogram findings consistent with biventricular HCM.
- Family history of Fabry disease (FD) in her son and brother prompted further testing.
Findings:
- The patient was diagnosed with Fabry disease (FD), confirmed by low alpha-galactosidase (AGAL) levels and a novel severe mutation in the GLA gene.
- The mutation involved a gross deletion in the 3' region of the GLA gene, including coding parts of exon 7.
- She commenced specific enzyme therapy.
Implications:
- Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by GLA gene mutations.
- Females with FD can exhibit milder or later-onset phenotypes, challenging traditional carrier status assumptions.
- This case underscores the importance of considering FD in women presenting with unexplained HCM and neurological symptoms.
Background:
Aetiologic diagnosis should be a priority in cardiomyopathy patients, as some of them may benefit from efficient specific treatment. To achieve this, the best approach is to look for clinical and paraclinical 'red flags'.
Case Summary:
A 55-year-old woman was referred to our centre with the diagnoses of hypertrophic cardiomyopathy (HCM), high blood pressure and dyslipidaemia. The only symptom she declared was long-term acroparesthaesia with an otherwise normal clinical exam. Lab work-up showed slightly above normal values of troponin and brain natriuretic peptide (BNP), and chronic kidney disease Stage IIIA. Both the electrocardiogram (ECG) and the echocardiography showed signs of biventricular HCM, with short PR interval on the ECG and longitudinal systolic dysfunction on the echo. Family history revealed that her son and brother had been diagnosed with Fabry disease (FD). She was then tested for FD and the results confirmed the diagnosis. Alpha-galactosidase (AGAL) levels were low and she had a severe mutation on the GLA gene (gross deletion of 3' region of the GLA gene including coding parts of exon 7), not described before. The patient was started on specific enzyme therapy.
Discussion:
Fabry disease is a rare X-linked disease caused by mutations on the GLA gene, which leads to low levels of AGAL and accumulation of globotriaosylceramide in the lysosomes of most tissues. Even though FD is X-linked, current medical knowledge states that most females are not mere carriers, but often present with a milder or later-onset phenotype.
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