Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122)

William C. Nichols, Juris J. Liepnieks, Elaine L. Snyder, Merrill Benson

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Senile cardiac amyloidosis, also known as senile systemic amyloidosis, is a sporadic disease of late onset but with increasing incidence with age. Recently it has been shown in one case that amyloid deposits contained a transthyretin variant with an isoleucine for valine substitution at position 122. A second case with the transthyretin isoleucine 122 variant is reported here. This individual, who died with restrictive cardiomyopathy, was found to be homozygous for this transthyretin variant and his son heterozygous for the variant. A brother of the propositus was also homozygous for the variant but died of a cerebral vascular accident without being evaluated for amyloidosis. These studies show genetic transmission of the isoleucine-122 transthyretin variant associated with this form of cardiac amyloidosis.

Original languageEnglish
Pages (from-to)173-174
Number of pages2
JournalJournal of Laboratory and Clinical Medicine
Volume117
Issue number3
StatePublished - 1991

Fingerprint

Prealbumin
Amyloidosis
Isoleucine
Restrictive Cardiomyopathy
Amyloid Plaques
Valine
Amyloid
Accidents
Blood Vessels
Substitution reactions
Deposits
Incidence

ASJC Scopus subject areas

  • Medicine(all)
  • Pathology and Forensic Medicine

Cite this

Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122). / Nichols, William C.; Liepnieks, Juris J.; Snyder, Elaine L.; Benson, Merrill.

In: Journal of Laboratory and Clinical Medicine, Vol. 117, No. 3, 1991, p. 173-174.

Research output: Contribution to journalArticle

Nichols, William C. ; Liepnieks, Juris J. ; Snyder, Elaine L. ; Benson, Merrill. / Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122). In: Journal of Laboratory and Clinical Medicine. 1991 ; Vol. 117, No. 3. pp. 173-174.
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