Prognostic Predictors Based on Echocardiographic Phenotype of Transthyretin Cardia Amyloidosis

Liz Chacko, MBBS, and colleagues from the National Amyloidosis Centre, Royal Free Hospital, in London, UK, presented their findings regarding the functional and structural phenotype of transthyretin cardiac amyloidosis (ATTR-CA) utilizing echocardiography across a wide range of patients.

ATTR-CA is a progressive and ultimately fatal condition; however, improved diagnostics are increasing disease detection. As a first-line imaging tool, echocardiography is the most accessible diagnostic instrument in the armamentarium. To date, prognostic indices have been reported in small series, or as single-variable studies. Therefore, a knowledge gap on the echocardiographic phenotype of ATTR-CA continues to persist.

With the intent of assessing independent echocardiographic markers of prognosis, more than 10,000 patients were referred to the National Amyloidosis Centre of Royal Free Hospital, London, UK, between 2000 and 2019 and assessed for ATTR-CA on the basis of validated diagnostic criteria. In total, 1270 ATTR patients were identified from the database, with 30 receiving disease-modifying treatment, leaving 1240 ATTR patients who were included in the study cohort.

Echocardiograms were reviewed by experienced operators blinded to the final diagnosis and analyzed according to guidelines.

Approximately 62% were diagnosed with wild-type ATTR-CA (mean age of 77.5 years, with 94% of the population male). Three hundred fourteen patients had the V122I variant of hereditary ATTR-CA (mean age of 75 years, male 73%), 127 (10%) had the T60A variant of hereditary ATTR-CA (mean age of 66 years, male 68%), and 33 (3%) had non-V122I non-T60A-associated hereditary ATTR-CA (mean age of 58.6 years, male 82%).

Analysis revealed that T60A was the most favorable phenotype with better biventricular systolic function and less compromised diastolic dysfunction. Wild-type was considered to be of intermediate severity. Finally, V112I was considered to be associated with the most severe cardiac dysfunction, lower indices of left ventricular systolic function, impaired diastolic function and right ventricular function, increased pulmonary pressure, increased incidence of mitral regurgitation, and significant tricuspid regurgitation.

Along with a wider awareness of coexistent cardiac amyloidosis and aortic stenosis, this knowledge gap translates into clinical uncertainty on the optimal management of patients in this group, specifically whether to consider aortic valve intervention in patients with ATTR-CA.

Their study highlighted a need for clinicians to be aware of the presence of severe aortic stenosis in the context of ATTR-CA that is associated with a dramatic reduction in patient survival.

Sources: Chacko L, Bandera F, Martinez-Naharro A, et al. Describing the echocardiographic phenotype of transthyretin cardiac amyloidosis: What are the predictors of prognosis? Presented at: 2020 International Symposium on Amyloidosis; September 14-18, 2020. Abstract OP30.

Chacko L, Martone R, Bandera F, et al. Echocardiographic phenotype and prognosis in transthyretin cardiac amyloidosis. Eur Heart J. 2020;41:1439-1447.

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