What does this research mean for the field?

ATTRv was detected in 41% of patients with amyloid cardiomyopathy, primarily affecting those of Afro-Caribbean origin. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

This research aims to evaluate how multimodality cardiac imaging and genetic testing can aid in the diagnosis of amyloid cardiomyopathy.

February 2, 2026

Multimodality imaging and genetic assessment in the diagnosis of amyloid cardiomyopathy

Key Result

In this study, ATTRv was detected in 41% of patients with amyloid cardiomyopathy, primarily affecting those of Afro-Caribbean origin.

Key Points

This research aims to evaluate how multimodality cardiac imaging and genetic testing can aid in the diagnosis of amyloid cardiomyopathy.
Included twenty patients with heart failure and indicators of amyloidosis.
Conducted strain echocardiography, 99mTc-PYP scintigraphy, and cardiac magnetic resonance imaging.
Performed TTR gene sequencing on those diagnosed with ATTR-CM via scintigraphy.
41% of patients had hereditary transthyretin amyloidosis (ATTRv), with V142I being the most common mutation.
Diastolic dysfunction was more pronounced in ATTRv patients compared to ATTRwt.
Atrial fibrillation was observed more frequently in ATTRv (57%) than in ATTRwt (40%).
Right ventricular uptake of 99mTc-PYP was significantly higher in ATTRv (70%) than in ATTRwt (40%).

Structured PICO

Does multimodality imaging and genetic testing identify phenotypic differences between hereditary and wild-type transthyretin amyloid cardiomyopathy?

Population

20 patients (mean age: 75±3 years, 15% women) with heart failure and red flags of amyloidosis and negative serum free light chains test.

Intervention

Multimodality cardiac imaging (strain echocardiography, 99mTc-pyrophosphate scintigraphy, cardiac magnetic resonance) and genetic testing (TTR gene sequencing).

Outcome

Contribution of multimodality cardiac imaging and genetic testing to amyloid CM diagnosis and relationship with clinical and imaging characteristics.surrogate

Multimodality imaging and genetic testing reveal that hereditary ATTR-CM is common (41%) among patients with heart failure and amyloid red flags, presenting with distinct imaging and clinical features compared to wild-type ATTR-CM.

Main Result

Absolute Event Rate: 0% vs 0%

Abstract

Abstract Background Amyloid cardiomyopathy (CM) is an increasingly diagnosed condition causing heart failure, being light chain amyloidosis (AL) and transthyretin amyloidosis (ATTR), the two most common subtypes. Although wild-type transthyretin amyloidosis (ATTRwt) is the most frequent form of ATTR-CM, hereditary transthyretin amyloidosis (ATTRv) can also occur. Multimodality cardiac imaging is essential to diagnose and risk stratify these patients. Purpose To assess the contribution of multimodality cardiac imaging and genetic testing to amyloid CM diagnosis and to investigate the relationship with clinical and imaging characteristics. Methods Twenty patients (mean age: 75±3 years, 15% women) with heart failure and red flags of amyloidosis were included. All had strain echocardiography, 99mTc-pyrophosphate (PYP) scintigraphy and cardiac magnetic resonance (CMR). In all cases the serum free light chains test was negative. A TTR gene sequencing was done in those with diagnosis of ATTR-CM by PYP scintigraphy. Results In three patients (77±6 years, 33% women) cardiac amyloidosis was not the cause of their clinical picture. Among the other 17 cases, ATTRv was detected in 41%: V142I (n=5), V50M (n=1) (in both cases of Afro-caribbean origin) and I88L (n=1) were the mutations found. ATTRwt patients were mainly of non-African origin and slightly older (75 vs. 72 years, pNS). The more frequent atherosclerotic risk factor present in both groups was high blood pressure (50% of cases). Only one ATTRv patient was also diabetic. Five patients (50%) showed a carpal tunnel syndrome in the ATTRwt group vs. 28% of ATTRv. Only two patients with ATTRwt had a NYHA class III, the rest of patients (both ATTRwt and ATTRv) had NYHA class II. Atrial fibrillation was more frequent in ATTRv (57% of cases) vs. 40% in ATTRwt. Regarding echocardiography results, there was no difference in the degree of hypertrophy. Ventricular volumes were slightly higher in ATTRwt, but without statistical significance. All patients showed a reduced longitudinal strain with apical sparing pattern and granular sparkling of the myocardium. The diastolic dysfunction was slightly worse in ATTRv. 99mTc-PYP scintigraphy showed a Perugini degree 3 in 70% of ATTRwt cases, while all ATTRv had a Perugini degree 3. Right ventricular uptake of 99mTc-PYP was significantly more frequent in ATTRv (70% of cases vs. 40% of ATTRwt). LVEF and RVEF by CMR were higher in ATTRwt. No transmural late Gadolinium enhancement (LGE) was detected. Subendocardial and intramyocardial LGE were equally present in ATTRwt, while the intramyocardial LGE was more frequent in ATTRv. Conclusion ATTRv was present in 41% of our cases, mainly in patients of Afro-caribbean origin. The most frequent variant found was V142I. Atrial fibrillation, diastolic dysfunction, Perugini degree 3 and right ventricular uptake in scintigraphy, as well as intramyocardial LGE in CMR were more frequent in ATTRv.

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