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Conference Proceedings - Journal of Cholesterol and Heart Disease (2020) Volume 0, Issue 0
Senile systemic amyloidosis in a young Indian: a case report
?Cardiac amyloidosis is characterized by the extracllular deposition of various amyloid precursor proteins in the myocardium of heart. Senile systemic amyloidosis, a late-age onset disease is characterized by the deposition of wild-type transthyretin protein. Senile systemic amyloidosis is reported to affect 25% of aged individuals with more severity in octagenerians. However, incidence of transthyretin related amyloidosis has disproportionately increased in the recent years across worldwide. This report presents a young patient (34 years of age) diagnosed with signs of left ventricular hypertrophy and diminished global longitudinal strain with apical sparing suggestive of cardiac amyloidosis. Presence of amyloid deposits was confirmed by the Congo red staining. The involvement of transthyretin was identified by immuno-histochemical staining of the abdominal fat biopsy sample. Genetic analysis revealed absence of any mutant variant/s of transthyretin gene thereby confirming senile systemic amyloidosis, driven by the wild-type form of the gene. To the best of our knowledge, this is the first report of transthyretin related amyloidosis from India. ?
Author(s): Shreya Ghosh 1â?, Dibbendhu Khanra 2, Avinash Gahane 3, Ashwani Kumar Thakur 4 1 Department of Biological Sciences and Bioengineering, Indian Institute of Technology Kanpur, India 2 Department of Cardiology, All India Institute of Medical Sciences (AIIMS), Rishikesh, India 3 Department of Biological Sciences and Bioengineering, Indian Institute of Technology Kanpur, India 4 Department of Biological Sciences and Bioengineering, Indian Institute of Technology Kanpur, India