Skill Checkup: A 68-Year-Old Man With Acute Decompensated Heart Failure, Worsening Dyspnoea and Lower Extremity Oedema

Marco Luigetti, MD, PhD


August 18, 2022

This condition has classically been considered a rare disease, with three major endemic clusters in Portugal (where it was first described), Sweden and Japan; smaller endemic foci have been subsequently identified in Cyprus and Majorca

Given the increasing awareness of the disease among clinicians and the widespread availability of genetic testing, the incidence of hATTR is expected to rise, particularly in nonendemic regions. Currently, hATTR has now been reported in at least 36 countries around the world. It is estimated that globally the prevalence could be as high as 50,000 cases.

Given the patient's age, acquired primary cardiomyopathies seemed more likely. His history of recurrent non-sustained ventricular tachycardia raised concern for an infiltrative process. The patient underwent a genetic panel for hypertrophic cardiomyopathies, and the V122I mutation in TTR gene was found. The final diagnosis was hATTR-CM.


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