• 作者：Pablo Garcí ; a-Paví ; a^a ; ^{pablogpavia@yahoo.es} ; Patricia Avellana^a ; ^b ; Belé ; n Bornstein^c ; Dami&#225 ; n Heine-Suñ ; er^d ; Marta Cobo-Marcos^a ; Manuel Gó ; mez-Bueno^a ; Javier Segovia^a ; Luis A. Alonso-Pulpó ; n^a
• 关键词：Amiloidosis ; Gené ; tica ; Transtiretina
• 刊名：Revista Espa帽ola de Cardiolog铆a
• 出版年：2011
• 期刊代码：pca308_03008932
• 类别：med
• 出版时间：June 2011
• 卷：64
• 期：6
• 页码：523-526
• 文件大小：670 K

Cardiac amyloidosis is a disease of complex diagnosis and treatment. Some subtypes of cardiac amyloidosis are inherited. Among these, the most common variant is caused by mutations in the transthyretin gene.

Correct identification of amyloidosis produced by a genetic defect is of great importance because it modifies the diagnostic and therapeutic approach in patients and their families.

We describe our experience in the evaluation of two families with hereditary transthyretin cardiac amyloidosis. We discuss a number of considerations related to the evaluation of these patients and the diagnostic and therapeutic approach to perform in relatives.

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