Genotype-Phenotype Correlation of a Rare Transthyretin Variant Causing Amyloidosis

• DOI: 10.1016/j.cjco.2022.09.005
• Publication Date: 2022-10-01T05:11:15Z
• Authors: Ammar G. Chaudhary; Fadi M. AlReefi; Riad G. Abou Zahr; Hossam A. Elzeftawy; Saleh S. Alghamdi; Areej A. Bushnag; Jaudah A. Al-Magh...; Iman S. Abumansour
• Keywords: 03 medical and health sciences; 0302 clinical medicine; Case Report

Left ventricular hypertrophy is a common entity with a broad differential diagnosis. We present a case of a middle-aged woman with left ventricular hypertrophy and neuropathy caused by a rare transthyretin variant in the absence of a family history or regional reports of hereditary transthyretin amyloidosis. This report outlines the diagnosis and management of patients with a mixed phenotype of hereditary transthyretin amyloidosis and enriches clinical data supporting the pathogenicity of a rare variant of transthyretin.