title: [Familial approach in hereditary transthyretin cardiac amyloidosis].
abstract: 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.
authors: Unidad de Miocardiopatías, Sección de Trasplante Cardiaco, Servicio de Cardiología, Hospital Universitario Puerta de Hierro, Majadahonda, Madrid, España. pablogpavia@yahoo.es
authors: Pablo
authors: P
authors: García-Pavía
authors: Patricia
authors: P
authors: Avellana
authors: Belén
authors: B
authors: Bornstein
authors: Damián
authors: D
authors: Heine-Suñer
authors: Marta
authors: M
authors: Cobo-Marcos
authors: Manuel
authors: M
authors: Gómez-Bueno
authors: Javier
authors: J
authors: Segovia
authors: Luis A
authors: LA
authors: Alonso-Pulpón
mesh_terms: D000368:Aged; D028226:Amyloidosis, Familial / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D003925:Diabetic Angiopathies / Q000150:complications; D018450:Disease Progression; D005260:Female; D006331:Heart Diseases / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006579:Heterozygote; D006801:Humans; D006973:Hypertension / Q000150:complications; D016031:Liver Transplantation; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011228:Prealbumin / Q000235:genetics*; D011652:Pulmonary Circulation; D057832:Watchful Waiting
chemical_list: D011228:Prealbumin