Abstract
Tyr78Phe is a rare pathogenic transthyretin (TTR) mutation. Few previous reports described a late-onset hereditary transthyretin-related amyloidosis (ATTR-m) form with a variable phenotype, mainly dominated by neurological manifestations. We describe the case of a 69-year-old male with massive but asymptomatic cardiac infiltration and only subclinical neurological involvement, and review the literature to depict characteristics of the Tyr78Phe TTR mutation.
| Original language | English |
|---|---|
| Pages (from-to) | 514-516 |
| Number of pages | 3 |
| Journal | Journal of Cardiovascular Translational Research |
| Volume | 12 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Dec 2019 |
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Keywords
- Amyloid cardiomyopathy
- Amyloidosis
- Transthyretin
- Transthyretin familial amyloid polyneuropathy
- Tyr78Phe
ASJC Scopus subject areas
- Molecular Medicine
- Genetics
- Pharmaceutical Science
- Cardiology and Cardiovascular Medicine
- Genetics(clinical)
Cite this
Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation. / Tini, Giacomo; Vianello, Pier Filippo; Gemelli, Chiara; Grandis, Marina; Canepa, Marco.
In: Journal of Cardiovascular Translational Research, Vol. 12, No. 6, 12.2019, p. 514-516.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation
AU - Tini, Giacomo
AU - Vianello, Pier Filippo
AU - Gemelli, Chiara
AU - Grandis, Marina
AU - Canepa, Marco
PY - 2019/12
Y1 - 2019/12
N2 - Tyr78Phe is a rare pathogenic transthyretin (TTR) mutation. Few previous reports described a late-onset hereditary transthyretin-related amyloidosis (ATTR-m) form with a variable phenotype, mainly dominated by neurological manifestations. We describe the case of a 69-year-old male with massive but asymptomatic cardiac infiltration and only subclinical neurological involvement, and review the literature to depict characteristics of the Tyr78Phe TTR mutation.
AB - Tyr78Phe is a rare pathogenic transthyretin (TTR) mutation. Few previous reports described a late-onset hereditary transthyretin-related amyloidosis (ATTR-m) form with a variable phenotype, mainly dominated by neurological manifestations. We describe the case of a 69-year-old male with massive but asymptomatic cardiac infiltration and only subclinical neurological involvement, and review the literature to depict characteristics of the Tyr78Phe TTR mutation.
KW - Amyloid cardiomyopathy
KW - Amyloidosis
KW - Transthyretin
KW - Transthyretin familial amyloid polyneuropathy
KW - Tyr78Phe
UR - http://www.scopus.com/inward/record.url?scp=85059586813&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85059586813&partnerID=8YFLogxK
U2 - 10.1007/s12265-018-9859-0
DO - 10.1007/s12265-018-9859-0
M3 - Article
AN - SCOPUS:85059586813
VL - 12
SP - 514
EP - 516
JO - Journal of Cardiovascular Translational Research
JF - Journal of Cardiovascular Translational Research
SN - 1937-5387
IS - 6
ER -