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Pregled bibliografske jedinice broj: 937239

Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation

Selthofer-Relatić, Kristina
Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation // Case Reports in Cardiology, 2018 (2018), 6131083, 5 doi:10.1155/2018/6131083 (međunarodna recenzija, članak, stručni)

Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation

Selthofer-Relatić, Kristina

Case Reports in Cardiology (2090-6404) 2018 (2018); 6131083, 5

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, stručni

Ključne riječi
Anderson-Fabry disease, cardiovascular presentation, cardiomyopathy

Background. Anderson-Fabry disease is an X- linked inherited disease, which manifests in a different manner depending on gender and genotype. Making a working diagnosis of Anderson-Fabry disease is difficult because of several reasons: (a) that it is a multiorgan disease with wide variety of phenotypes, (b) different timelines of presentation, (c) gender differences, and (d) possible coexistence with other comorbidities. Late-onset/cardiac type of presentation with minimal involvement of other organs can additionally make diagnosis difficult. Aim. To describe different cardiac manifestations at different time points in the course of the disease: (1) 72-yearold female (echocardiography detection), heterozygote, significant left and mild right ventricular hypertrophy ; (2) 62-year-old male (echocardiography detection), hemizygote, left ventricular hypertrophy, implanted cardiac pacemaker, a performed percutaneous coronary intervention after myocardial infarction, degenerative medium degree aortic valve stenosis ; (3) 45-year-old female (asymptomatic/family screening), heterozygote, thickened mitral papillary muscle, mild left ventricular hypertrophy, first degree diastolic dysfunction ; and (4) 75-year-old female (symptomatic/family screening), heterozygote, cardiomyopathy with reduced left ventricular ejection fraction after heart surgery (mitral valve annuloplasty and plastic repair of the tricuspid valve). Conclusion. All patients have Anderson-Fabry disease but with different clinical presentations depending on the gender, the type of mutation, and the time of detection. All these features can make the patients’ profiles unique and delay the time of detection.

Izvorni jezik

Znanstvena područja
Kliničke medicinske znanosti


Medicinski fakultet, Osijek

Autor s matičnim brojem:
Kristina Selthofer-Relatić, (333024)

Časopis indeksira:

  • Web of Science Core Collection (WoSCC)
    • Emerging Sources Citation Index (ESCI)