Publications by authors named "M Bartolotti"

Background: non-syndromic dilated cardiomyopathy (DCM) is found to correlate with a genetic cause in 30-40 % of cases. The identification of a causative gene variant can guide treatment options and cascade testing of at-risk family members. Cardiomyopathy multigene panels are routinely used to identify the genetic cause, but often detect variants of uncertain significance (VUS).

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Article Synopsis
  • * A retrospective analysis was conducted on 811 patients from the DIAMOND study, which included a total of 1281 patients diagnosed in Italy between 2016-2021, focusing on characteristics leading to their diagnosis and calculating their respective scores.
  • * Findings showed that only 1% of patients had early diagnoses, with significant differences in prognostic variable distribution based on diagnostic pathways, and both NAC and Columbia scores were linked to all-cause mortality.
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Aims: Transthyretin cardiac amyloidosis (ATTR-CA) is a rare and progressive cardiomyopathy caused by amyloid fibril deposition in myocardial tissue. Diagnostic challenges have historically hampered timely detection. Recent advances in noninvasive diagnostic techniques have facilitated ATTR-CA diagnosis.

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Article Synopsis
  • The study aimed to characterize the diagnostic pathways leading to wild-type transthyretin cardiac amyloidosis (ATTRwt-CA) and assess their association with patient survival.
  • A total of 1281 patients were analyzed, with most diagnosed through heart failure (51%), followed by incidental imaging (23%) and clinical pathways (19%).
  • Findings revealed that patients diagnosed via the heart failure pathway were typically older and had worse prognoses, but survival outcomes were mainly influenced by age, NYHA functional class, and comorbidities rather than the specific diagnostic pathway.
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Cardiomyopathies are a heterogeneous group of cardiac diseases for which diagnosis and treatment are not always simple. The diagnosis of cardiomyopathy, in particular the etiology, comes from an integration between symptoms and results collected by several instrumental exams. The brain storming for the diagnosis includes also the identification of the "red flags", i.

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