Primary Cardiac Involvement in the Rare Transthyretin Ile73Val Mutation: A Case Series

Circ Genom Precis Med. 2020 Jun;13(3):e002792. doi: 10.1161/CIRCGEN.119.002792. Epub 2020 May 11.

Authors

Prabodh Kumar¹, Ganesh Paramasivam¹, Tom Devasia¹, Prakashini K¹, Megha A¹, Krishnananda Nayak¹, Manjunath B Joshi¹, Rajasekhar Moka¹

Affiliation

¹ Department of Cell and Molecular Biology (P.K., R.M.), Department of Ageing Research, Manipal School of Life Sciences (M.B.J.), Department of Cardiology (G.P., T.D., ), Department of Radiodiagnosis and Imaging, Kasturba Medical College (P.K.), and Department of Cardiovascular Technology (M.A., K.N.), Manipal College of Health Professions, Manipal Academy of Higher Education, Karnataka, India.

PMID: 32393063
DOI: 10.1161/CIRCGEN.119.002792

No abstract available

Keywords: amyloid; heart failure; isoleucine; left ventricular hypertrophy; thyroxine.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Aged
Amino Acid Substitution
Amyloid Neuropathies, Familial / diagnostic imaging
Amyloid Neuropathies, Familial / genetics*
Cardiomyopathies / diagnostic imaging
Cardiomyopathies / genetics*
Humans
Male
Middle Aged
Mutation, Missense*
Prealbumin / genetics*

Substances

Prealbumin
TTR protein, human

Supplementary concepts

Amyloidosis, Hereditary, Transthyretin-Related