Key result
Hereditary transthyretin-related amyloidosis is a widely underdiagnosed condition with extreme phenotypic variability, requiring an active search for red flags to identify cardiac involvement.
Hereditary transthyretin-related amyloidosis with cardiac involvement can mimic other causes of left ventricular hypertrophy, requiring an active search for diagnostic red flags.
Heightened suspicion for red flags may aid detection of hereditary ATTR cardiomyopathy; leaves open optimal screening strategies in diverse populations.
Hereditary transthyretin-related amyloidosis remains a widely underdiagnosed condition, owing to its extreme phenotypic variability: the clinical spectrum of the disease ranges from an almost exclusive neurologic involvement to strictly cardiac manifestations. This heterogeneity is linked to several factors including specific transthyretin mutations, geographic distribution and endemic vs. non-endemic aggregation type. The existence of exclusively or predominantly cardiac phenotypes makes the recognition of the disease very challenging since it can mimic other more common causes of left ventricular "hypertrophy". Assessment of such patients should include an active search for possible red flags that can indicate the correct final diagnosis.
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Rapezzi et al. (2012) conducted a review in Hereditary transthyretin-related amyloidosis. Hereditary transthyretin-related amyloidosis is a widely underdiagnosed condition with extreme phenotypic variability, requiring an active search for red flags to identify cardiac involvement.
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