Key result
A 55-year-old woman with hypertrophic cardiomyopathy was diagnosed with Fabry disease caused by a previously undescribed severe mutation on the GLA gene.
Why the study?
Aetiologic diagnosis is a priority in cardiomyopathy patients because some may benefit from efficient specific treatment, best achieved by identifying clinical and paraclinical red flags.
Population
A 55-year-old woman with hypertrophic cardiomyopathy, high blood pressure, and dyslipidaemia
Design
Case report
Authors
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Suggests considering Fabry disease in female HCM patients; leaves open pathogenicity of this novel GLA variant.
Case Report (n=1)
A novel GLA gene mutation was identified as the aetiology of hypertrophic cardiomyopathy in a female patient, highlighting the importance of genetic testing and family history in cardiomyopathy diagnosis.
Militaru et al. (2018) conducted a case report in Fabry disease and hypertrophic cardiomyopathy (n=1). Specific enzyme therapy was evaluated on Diagnosis of Fabry disease and identification of a novel GLA gene mutation. A 55-year-old woman with hypertrophic cardiomyopathy was diagnosed with Fabry disease caused by a previously undescribed severe mutation on the GLA gene.
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