Unraveling the Challenges in Diagnosing Cardiac Amyloidosis

Transthyretin amyloidosis (ATTR) is a rare genetically caused pathology leading to potentially fatal infiltrative cardiomyopathy, representing the most common form of hereditary restrictive cardiomyopathy. The transthyretin (TTR) gene is located on chromosome 18q12.1 with autosomal dominant inheritance and variable penetrance. ATTR exhibits heterogeneous clinical manifestations, with cardiac involvement being the primary marker of poor prognosis. Cardiac amyloidosis (CA), a rare and often overlooked condition, has emerged as a significant challenge in the field of cardiology. This disorder poses a series of difficulties regarding early and accurate diagnosis.^–

Currently, the availability of genetic testing has identified a population carrying the genetic variant without the phenotype of CA.^– However, due to the progressive and slow evolution of the disease, the exact identification of cardiac involvement remains unknown.^–

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