TTR Val142Ile: Bystander Genetic Finding or Diagnosis?
Author:
Funder
National Heart, Lung, and Blood Institute
Publisher
Springer Science and Business Media LLC
Subject
Cardiology and Cardiovascular Medicine,Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s00246-022-03085-7.pdf
Reference9 articles.
1. Torpoco Rivera DM, Williams CT, Karpawich PP (2022) Cardiac amyloidosis in a child presenting with syncope: the first reported case and a diagnostic dilemma. Pediatr Cardiol 43:700–703
2. Yamashita T, Hamidi Asl K, Yazaki M, Benson MD (2005) A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population. Amyloid 12:127–130
3. Buxbaum JN, Ruberg FL (2017) Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans. Genet Med 19:733–742
4. Connors LH, Prokaeva T, Lim A et al (2009) Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis. Am Heart J 158:607–614
5. Maurer MS, Bokhari S, Damy T et al (2019) Expert consensus recommendations for the suspicion and diagnosis of transthyretin cardiac amyloidosis. Circ Heart Fail 12:e006075
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