[Hereditary amyloid cardiomyopathy related to a mutation at transthyretin protein number 111. A clinical, genetic and echocardiographic study of an affected Danish family].

Abstract excerpt

Amyloidosis is a group of diseases characterized by amyloid deposition in various tissues. The diseases can roughly be divided into hereditary and non-hereditary forms. The hereditary forms are related to a mutation in the serum protein transthyretin which is produced mainly in the liver. The inheritance is autosomal dominant. A family in Denmark has earlier been described as having inherited cardiac amyloidosis...

Topics

• Adolescent
• Amyloidosis
• Cardiomyopathies
• Child
• Denmark
• Echocardiography, Doppler
• Female
• Humans
• Male
• Methionine
• Middle Aged
• Mutation