全身性アミロイドーシス

Accurate, early identification of transthyretin cardiac amyloidosis (ATTR-CA) is challenging yet critical for effective treatment. In this work, the modeled endpoint is scan positivity on [Formula: see text] scintigraphy, defined by the semi-quantitative Perugini visual grade (Grade 2-3 versus Grade 0-1). Two multimodal deep-learning frameworks, including Late Fusion (LF) and Cross-Modal Fusion Network (CMF-Net), are proposed to combine [Formula: see text] scintigraphy with clinical metadata for automated detection. On a curated cohort of 109 patients (62 positive, 47 negative), fusion models consistently outperformed image-only convolutional neural networks (CNNs): CMF-Net raised average accuracy by 6.9 percentage points and LF by 5.4. EfficientNet CMF-Net achieved peak accuracy 90.9% and F1-score 91.4%. Notable gains included a +30.8 percentage points sensitivity(recall) for ResNet-34 with CMF-Net and ResNet-50 LF sensitivity of 94.9%. These results show that integrating imaging and text/numeric clinical data yields superior, reproducible detection of [Formula: see text] scan positivity and may streamline scan interpretation.

BACKGROUND: Unexplained left ventricular hypertrophy (LVH) represents a diagnostic challenge, as phenotypic overlap may exist between sarcomeric hypertrophic cardiomyopathy (HCM) and infiltrative cardiomyopathies such as transthyretin amyloid cardiomyopathy (ATTR-CM). Multimodality imaging and genetic testing are crucial when standard findings are discordant. CASE SUMMARY: A 78-year-old woman presented with exertional dyspnoea (NYHA class II) and asymmetric septal hypertrophy without secondary causes. Transthoracic echocardiography showed preserved left ventricular ejection fraction with reduced basal longitudinal strain and relative apical sparing. Cardiac magnetic resonance demonstrated elevated native T1 values (1240-1270 ms), mildly increased T2 values, and basal ring-like late gadolinium enhancement. Bone scintigraphy revealed Perugini grade 3 myocardial uptake, consistent with ATTR-CM. Monoclonal gammopathy was excluded. Genetic testing identified a pathogenic transthyretin mutation (TTR p.Ile88Leu) and a concomitant likely pathogenic sarcomeric MYH7 variant (p.Gly733Arg). Neurological assessment was unremarkable. The overall phenotype was dominated by amyloid infiltration. DISCUSSION: Following multidisciplinary evaluation, the patient was started on tafamidis 61 mg once daily. Cascade genetic and clinical screening was recommended for first-degree relatives.

BACKGROUND: Clinical benefit of percutaneous coronary intervention (PCI) in chronic coronary syndromes (CCS) remains controversial. Coronary wave intensity analysis (WIA) provides mechanistic insights into cardiac-coronary coupling. OBJECTIVES: To assess peri-PCI WIA changes at rest and during hyperaemia, and to identify features associated with improvements in epicardial and microvascular resistance. METHODS: Intracoronary Doppler and pressure measurements were analysed in 27 CCS patients undergoing elective PCI. Haemodynamics (fractional flow reserve (FFR), basal and hyperaemic stenosis resistance (bSR, hSR), coronary flow reserve (CFR), basal and hyperaemic microvascular resistance (bMR, hMR)) and WIA metrics (forward compression wave (FCW), backward compression wave (BCW), forward expansion wave (FEW), backward expansion wave (BEW), wave speed) were quantified at rest and hyperaemia. RESULTS: PCI reduced bSR and hSR (p<0.001), increased FFR (0.58±0.18 to 0.87±0.09; p<0.001) and CFR (1.68±0.47 to 2.79±0.62; p<0.001), and lowered hMR (2.22 (1.67-3.10) to 1.49 (1.18-1.74); p<0.001). At rest, PCI increased FCW (40.3±48.9 to 89.3±64.8; p=0.022), FEW (24.5 (7.2-42.8) to 58.8 (24.0-93.1); p=0.001) and BEW (57.6±70.6 to 82.1±51.8; p=0.017). Hyperaemic backward wave peaks augmented significantly (BCW: 77.8±53.3 to 172.8±112.3; BEW: 60.5±47.5 to 126.7±66.2; both p<0.001). WIA time-to-peaks occurred earlier post-PCI. Reduced resting wave speed (41±21 to 25±10 m/s; p<0.001) correlated with hMR decreases (r=0.77; p<0.001). Increased resting BEW correlated with total vascular resistance reductions (hSR+hMR; r=-0.76; p<0.001). CONCLUSIONS: Elective PCI restores phasic cardiac-coronary coupling. Resting BEW and coronary wave speed provide complementary physiological endpoints reflecting microvascular and epicardial recovery, warranting larger prospective evaluation.

AIMS: Recognition of transthyretin cardiac amyloidosis (ATTR-CA) remains challenging. In heart failure, plasmatic carbohydrate antigen 125 (CA125) is an established biomarker, reflecting inflammation and volume overload, common issues in ATTR-CA. Our aim was to evaluate the potential utility of CA125 as a "rule-in" biomarker for suspected ATTR-CA. METHODS AND RESULTS: This is a retrospective, multicenter, case-control study that included 626 consecutive ambulatory patients (median age 79 years, 74.8% male) from three tertiary centers. All individuals underwent 99mTc-DPD scintigraphy for suspected cardiac amyloidosis and had a CA125 determination available at the time of the evaluation. Following diagnostic workup, 451 (72%) patients were diagnosed with ATTR-CA, while 175 (28%) were ruled out for the disease. Patients with ATTR-CA showed a non-significant trend toward higher CA125 levels (16.2 [10.2-29.7] vs 14 [8-26.3] U/mL, p=0.065). A CA125 cutoff of 40 U/mL yielded a positive predictive value of 81.7% (95% CI: 78.6-84.7%). In a multivariate logistic regression model, CA125 was an independent predictor for the diagnosis of ATTR-CA (OR 2.109 (95% CI: 1.197-3.717; p=0.01). Combining CA125 (>40 U/mL) and NTproBNP (>2500 pg/mL) significantly improved the diagnostic accuracy of the model. Patients with both biomarkers above their respective cutoffs had a 3-fold higher likelihood of ATTR-CA (OR:3.38; 1.704-6.719; p<0.001). CONCLUSIONS: In ambulatory patients with suspected ATTR-CA, a CA125 >40 U/mL, particularly when combined with elevated NT-proBNP, supports the clinical suspicion of the disease. High CA125 levels may be useful in ATTR-CA recognition.