SCIENTIFIC JOURNAL of the Hungarian Society of Cardiology

Fabry disease or sarcomeric hypertrophic cardiomyopathy?

█ Case report

DOI: 10.26430/CHUNGARICA.2022.52.5.45

Nagy Viktória1, Takács Hedvig1, Borbás János1, Tringer Annamária1, Csányi Beáta1, Lidia Hategan1, Iványi Béla2, Nagy István3, 4, Hegedűs Zoltán5, 6, Sepp Róbert1
1Szegedi Tudományegyetem, II. sz. Belgyógyászati Klinika és Kardiológiai Központ, Szeged
2Szegedi Tudományegyetem, Patológiai Intézet, Szeged
3Biokémiai Intézet, Szegedi Biológiai Központ, Szeged
4Seqomics Biotechnológiai Kft.
5Biofizikai Intézet, Szegedi Biológiai Központ, Szeged
6Pécsi Tudományegyetem, Biokémiai és Orvosi Kémiai Intézet, Pécs
Levelezési cím:
Dr. Sepp Róbert, Szegedi Tudományegyetem, II. sz. Belgyógyászati Klinika és Kardiológiai Központ, 6725 Szeged,
Semmelweis u 8., E-mail:


Background: Hypertrophic cardiomyopathy (HCM) is a primary myocardial disease typically caused by gene mutations encoding proteins of the cardiac sarcomere. HCM-like phenocopies, e.g. the cardiac manifestation of Fabry disease, make differential diagnosis of HCM cases particularly challenging.
Case report: In this case report we describe the detailed genetic analysis of a female patient with HCM phenotype. At first presentation, the 49-years-old female patient complained permanent chest pain, shortness of breath and very low exercise capacity. Cardiac evaluation proved hypertrophic cardiomyopathy with severe asymmetric left ventricular hypertrophy (maximal left ventricular wall thickness at the anterior septum: 27 mm), without left ventricular outflow tract obstruction. During regular follow up, the patient had no episodes of cardiac decompensation, however echocardiography revealed impaired relaxation with a maximum NT-proBNP level of 244 pg/ml. Cardiac MRI confirmed increased end diastolic left ventricular mass (LVM: 169 g, LVMi: 76,9 g/m2) and the significant hypertrophy of the anterior septum in the basal and mid segment. Based on the finding of low-grade polyneuropathy indicated by electroneurography and proteinuria Fabry disease was suspected, and genetic screening was initiated for Fabry disease. Genetic results revealed a c.376A>G (p.Ser126Gly) pathogenic mutation in the GLA gene. Levels of lysoGb3 (≤1.8 ng/ml) was repeatedly in the normal range. In order to prove the cardiac involvement of Fabry disease unequivocally, myocardial biopsy was performed, which did not show histological evidence of Fabry disease. Screening for sarcomeric gene mutations an extended screening of 103 cardiomyopathy genes with next generation sequencing was performed which proved a most likely pathogenic frameshift mutation, p.Ala1056fs, of the MYBPC3 gene.
Conclusion: Based on the above findings, it is probable that hypertrophic cardiomyopathy was due to the MYBPC3 sarcomere gene mutation and not the cardiac manifestation of Fabry disease in this case.


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