Transthyretin cardiac amyloidosis (ATTR) is a rare cardiac protein deposition disease characterized by progressive thickening of both ventricles, the inter-atrial-ventricular septum and the atrioventricular valves. The gold standard method for diagnosing this rare pathology is endomyocardial biopsy. If this method cannot be used, the alternative is a mixture of clinical and paraclinical tests. Over the course of five years, we examined 58 patients suspected of cardiac amyloidosis based on electrocardiography and ultrasonography criteria, who had been sent for bone scintigraphy in order to determine the presence of ATTR cardiac amyloidosis. However, the final diagnosis was set by correlating the bone scan with genetic testing, free light chain dosage or soft tissue biopsy. Based on the final diagnosis we analyzed the patients’ predominant biomarkers in order to determine a possible correlation between them. This analysis is designed to help the general practitioner set a possible cardiac amyloidosis diagnosis.

Background/Objectives: The Tc-99m dimercaptosuccinic acid (DMSA) renal scan clearly images the renal cortex, highlighting functional tissue areas and indicating regions of renal scarring, infection, malformations, or other types of renal damage. To enhance the management of paediatric cases involving renal malformations and to reduce the incidence of chronic and progressive kidney diseases in “future adults”, our study aims to identify and categorise various renal anomalies. Methods: This has been achieved by analysing the Tc-99m DMSA renal scans of a large cohort of 931 children diagnosed with different renal pathologies. After interpreting the scans, we categorised the renal malformations and cortical modifications into four groups: kidney number anomalies, positional anomalies, structural anomalies, and shape anomalies. Results: There has been a notable increase in the demand for renal scintigraphy in recent years, rising from 82 cases in 2019 to 183 cases in 2024. Structural anomalies were the most common type of malformations (73% from all patients), featuring a significant variety of cortical modifications. In total, 98 cases (93% from kidney number anomalies and 10.5% from all children) were diagnosed with renal agenesis. Additionally, 30 children (3.2% from all patients) had positional anomalies, primarily ectopic kidneys, and 54 patients (5.8% from all cases) had shape malformations, especially fused kidneys. Conclusions: Combining the Tc-99m DMSA renal scan with ultrasound provides a more reliable diagnosis of paediatric renal progressive diseases. A more accurate diagnosis allows for quicker treatment and prevention of potential complications, ultimately improving the quality of life and decreasing hospital costs of paediatric patients becoming adults.

Background: Bisphosphonate scintigraphy (BS) is a recognized tool for diagnosing amyloid transthyretin cardiomyopathy (ATTR-CA). However, its sensitivity for rare transthyretin (TTR) variants, like Glu54Gln, remains underexplored. Methods: This was a retrospective descriptive study including all known patients with the Glu54Gln variant diagnosed between 2017 and 2023 in Romania, aiming to evaluate the diagnostic performance of BS in Glu54Gln ATTR–CA. Results: All symptomatic patients (n = 22) with histologically confirmed ATTR-CA had positive BS results (100% sensitivity). No false negatives were observed in asymptomatic carriers (n = 4). The Perugini visual score correlated with disease severity, with grade 3 scores associated with advanced cardiac involvement. We proposed a new parameter, heart-to-liver-uptake (H/L) ratio, which proved a strong positive correlation with both the heart-to-contralateral-uptake (H/CL) ratio (R² = 0.768, p < 0.001) and interventricular septum thickness (R² = 0.584, p < 0.001) and a weak correlation with the global longitudinal strain (R² = 0.212, p = 0.023). Conclusions: BS demonstrates high diagnostic accuracy for Glu54GlnATTR-CA, underscoring its utility in early diagnosis and clinical management. The H/L ratio presents a novel approach to semiquantitative analysis of bisphosphonate uptake in cardiac amyloidosis, potentially addressing key limitations of the traditional H/CL ratio.