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Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset, progressive, multisystemic condition caused by TTR pathogenic variants. Reliable biomarkers are needed to allow early diagnosis and to monitor disease severity and progression. We measured serum concentrations of growth differentiation factor-15 (GDF-15) and uromodulin (Umod) in ATTRv patients to evaluate correlations with standard markers of disease severity (FAP stage and PND score). Blood samples were collected from 16 patients diagnosed with ATTRv amyloidosis and a verified TTR variant and from 26 healthy controls. ATTRv patients were stratified by clinical phenotype (neurologic vs. mixed), genotype (V30M vs. non-V30M), and disease severity. We found significantly higher levels of serum GDF-15 in ATTRv patients compared with controls. Mean serum Umod levels were significantly lower in patients with ATTRv than controls. A positive correlation was found between serum Umod and estimated glomerular filtration rate (eGFR), while an inverse correlation was found with cystatin C levels. Conversely, GDF-15 showed a negative correlation with eGFR, and a direct correlation with cystatin C levels. No correlation was demonstrated between GDF-15 or Umod levels and traditional cardiac biomarkers. The results identify alteration of serum levels of GDF-15 and Umod in ATTRv amyloidosis. [ABSTRACT FROM AUTHOR]

This article presents a case study of a 77-year-old White woman with suspected transthyretin-related (TTR) cardiac amyloidosis. The patient exhibited symptoms of dyspnea and xerophthalmia, and diagnostic tests revealed increased left ventricular mass, reduced global longitudinal strain, and diffuse subendocardial late gadolinium enhancement. Although bone scintigraphy was negative, genetic testing identified two pathogenic variants (V122I/F64L) in the TTR gene. The patient refused further invasive testing but underwent cardiological follow-up and started gene-silencing therapy with Patisiran, which resulted in stable clinical outcomes. The article highlights the variability of phenotypic presentation in TTR-related amyloidosis and emphasizes the importance of neurological and neurophysiological follow-up in patients with cardiac involvement. [Extracted from the article]

Aims Methods and results Conclusions Lung ultrasound (LUS) is a sensitive tool to assess pulmonary congestion (PC). Few data are available on LUS‐PC evaluation in patients with severe aortic stenosis (AS) undergoing transcatheter aortic valve implantation (TAVI). The aim of this study was to assess the prevalence and prognostic impact of LUS‐PC in patients with severe AS before and after TAVI.We designed a single‐centre prospective study in patients referred for TAVI for severe AS (ClinicalTrials.gov identification number: NCT05024942). All patients underwent echocardiography and LUS (according to a simplified 8‐zone scanning protocol) the day before and within 72 h after the procedure. The primary endpoint was the composite of all‐cause mortality, hospitalization for heart failure and urgent medical visits for worsening dyspnoea at 12‐month follow‐up. A total of 127 patients were enrolled (mean age 81.1 ± 5.8 years; 54.3% female). Pre‐TAVI LUS‐PC was documented in 65 patients (51%). After TAVI, the prevalence of LUS‐PC significantly decreased as compared to pre‐TAVI evaluation, being documented in only 28 patients (22% vs. 51%, p < 0.001) with a median B‐lines score of 4 (interquartile range [IQR] 0–11) versus 11 (IQR 6–19) pre‐TAVI (p < 0.001). During a median follow‐up of 12 (12–17) months, 25 patients (19.6%) met the composite endpoint. On multivariable Cox regression analysis, pre‐TAVI LUS‐PC was independently associated with cardiovascular events (hazard ratio 2.764, 95% confidence interval 1.114–6.857; p = 0.028).Lung ultrasonography reveals a high prevalence of PC in patients with severe AS undergoing TAVI, which is significantly reduced by the procedure. Pre‐TAVI PC, measured by LUS, is an independent predictor of 1‐year clinical outcome. [ABSTRACT FROM AUTHOR]

Aims: The Italian Fabry Disease Cardiovascular Registry (IFDCR) comprises 50 Italian centres with specific expertise in managing cardiovascular manifestations and complications of patients with Fabry disease (FD). The primary aim of the IFDCR is to examine and improve the clinical care and outcomes of patients with FD by addressing several knowledge gaps in the epidemiology, natural history, genotype-phenotype correlations, diagnosis, and management of this condition, with particular focus on cardiovascular manifestations and complications., Methods and Results: The IFDCR is an international, longitudinal, multicentre, non-interventional, observational study. Consecutive patients aged ≥2 years with a diagnosis of FD will be included in the study. The recruitment period consists of two parts: the retrospective enrolment period, from January 1981 to December 2023, and the prospective enrolment period, spanning from January 2024 to December 2031. The registry collects baseline and follow-up data, including the enrolment setting, patient demographics, family history, symptoms, clinical manifestations, electrocardiogram, cardiovascular imaging, laboratory assessment, medical therapy, genetic testing results, and outcomes., Conclusions: The IFDCR is a national, multicentre, registry that includes patients with FD. It holds detailed and multiparametric data across the patient pathway and clinical manifestations, acting as a powerful tool for improving the quality of care and conducting high-impact research., (© The Author(s) 2024. Published by Oxford University Press on behalf of the European Society of Cardiology.)