Key result
Study evaluates ventricular strain in TTR variant carriers versus controls but reports no quantitative results.
Why the study?
Detecting cardiac amyloidosis early in TTR variant carriers may improve outcomes, and advanced imaging such as two-dimensional speckle-tracking echocardiography could potentially detect early disease.
Do advanced echocardiographic ventricular strain markers differ between asymptomatic transthyretin mutation carriers with preserved ejection fraction and healthy controls?
Cross-Sectional (n=70)
No
Do advanced echocardiographic ventricular strain markers differ between asymptomatic transthyretin mutation carriers with preserved ejection fraction and healthy controls?
Advanced echocardiographic imaging, specifically speckle-tracking strain analysis, is being evaluated for its potential to detect early phenotypic markers of cardiac amyloidosis in asymptomatic genetic mutation carriers.
Speckle-tracking echocardiography may flag early cardiac involvement in TTR variant carriers; hypothesis-generating and needs prospective validation before practice change.
Hereditary transthyretin amyloidosis (ATTRv) is a progressive, life-threatening condition caused by genetic mutations in the transthyretin (TTR) gene, leading to the accumulation of amyloid fibrils in the myocardium and resulting in restrictive cardiomyopathy.1 Detecting cardiac amyloidosis (CA) at an early-stage in TTR variant carriers (TTRc) may lead to improved patient outcomes.2 Advanced imaging techniques, such as two-dimensional speckle-tracking echocardiography, may offer a potential alternative for early detection.1–3 This study examines ventricular strain markers in TTRc with preserved ejection fraction (EF) and aims to determine clinical predictors for genetic diagnosis of ATTRv. A cross-sectional study was conducted at a single tertiary center, including 36 TTRc with a family history of CA and confirmed TTR variant, as well as 34 age- and sex-matched healthy controls. All participants were asymptomatic from a cardiovascular perspective and had preserved left ventricular ejection fraction (LVEF). Written informed consent was obtained from all participants, and the study was approved by the Institutional Research Ethics Committee (Escola Paulista de Medicina—UNIFESP). All participants underwent comprehensive transthoracic echocardiography, which included the assessment of left ventricular (LV) and right ventricular (RV) global longitudinal strain (GLS) and global circumferential strain (GCS). Five participants were excluded due to diagnosis of unstable angina, non-sinus rhythm, and uncontrolled hypertension. Statistical analyses assessed group differences, and logistic regression identified predictors of positive genetic testing.
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Capeline et al. (2025) conducted a cross-sectional in Hereditary transthyretin amyloidosis (ATTRv) (n=70). TTR variant carrier status vs. Age- and sex-matched healthy controls was evaluated on Ventricular strain markers (LV and RV global longitudinal and circumferential strain) and clinical predictors for genetic diagnosis. The abstract describes a cross-sectional study evaluating ventricular strain markers in TTR variant carriers compared to healthy controls, but does not report any quantitative results.
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