Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation
المؤلف
المصدر
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-03-20
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
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-year-old 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.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Selthofer-Relatić, Kristina. 2018. Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation. Case Reports in Cardiology،Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1141098
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Selthofer-Relatić, Kristina. Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation. Case Reports in Cardiology No. 2018 (2018), pp.1-5.
https://search.emarefa.net/detail/BIM-1141098
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Selthofer-Relatić, Kristina. Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation. Case Reports in Cardiology. 2018. Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1141098
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1141098
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر