The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis

ApoA-I amyloidosis is an extremely rare form of systemic amyloidosis that commonly involves the heart, kidneys, and liver. ApoA-I amyloidosis is caused by amyloidogenic variants of APOA1 that are inherited in an autosomal dominant manner. Here, we report a 69-year-old man with sporadic cardiac amylo...

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Bibliographic Details
Published inHuman genome variation Vol. 11; no. 1; pp. 30 - 4
Main Authors Yagi, Shusuke, Miyamoto, Ryosuke, Tasaki, Masayoshi, Morino, Hiroyuki, Otani, Ryuji, Kadota, Muneyuki, Ise, Takayuki, Yamazaki, Hiroki, Kusunose, Kenya, Yamaguchi, Koji, Yamada, Hirotsugu, Soeki, Takeshi, Wakatsuki, Tetsuzo, Fukuda, Daiju, Ueda, Mitsuharu, Sata, Masataka
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 16.08.2024
Springer Nature B.V
Nature Publishing Group
Subjects
631/208
631/208/2489/144
Age
Amino acids
Amyloidogenesis
Amyloidosis
Biomedical and Life Sciences
Biomedicine
Biopsy
Blood tests
Data Report
Diuretics
Ejection fraction
Electrocardiography
Families & family life
Gene Expression
Gene Function
Gene Therapy
Genomes
Genotype & phenotype
Heart
Hospitals
Human Genetics
Immunohistochemistry
Kidneys
Mass spectrometry
Medicine
Molecular Medicine
Peptides
Proteins
Scientific imaging
Scintigraphy
University graduates
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Summary:ApoA-I amyloidosis is an extremely rare form of systemic amyloidosis that commonly involves the heart, kidneys, and liver. ApoA-I amyloidosis is caused by amyloidogenic variants of APOA1 that are inherited in an autosomal dominant manner. Here, we report a 69-year-old man with sporadic cardiac amyloidosis who was born to consanguineous parents and carried a homozygous variant of p.Leu202Arg in APOA1 .
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ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-024-00288-7