Publications by authors named "Esperanza Bueno-Juana"

Article Synopsis
  • The study investigates how echocardiography can help identify cardiac amyloidosis (CA) in patients with left ventricular hypertrophy (LVH) who are experiencing heart failure (HF) decompensation.
  • Out of 85 patients, 49 were diagnosed with CA, with specific echocardiographic measurements showing significant differences between those with CA and those without.
  • Key features associated with CA included increased interventricular septum thickness, reduced left ventricular cavity size, and altered right ventricular function, emphasizing the role of echocardiography in diagnosing this condition.
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Article Synopsis
  • Transthyretin amyloidosis (ATTR) can be classified into wild-type (ATTR-wt) and hereditary forms (ATTR-m), with hereditary cases showing autosomal dominant inheritance.
  • ATTR is often underdiagnosed but is becoming recognized as a significant cause of heart failure, particularly with preserved ejection fraction.
  • A study evaluated High-Resolution Melting (HRM) analysis for detecting TTR mutations in patients suspected of having ATTR-m, finding it to be an effective and accurate diagnostic method, aligning 100% with TTR gene sequencing results.
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Transthyretin amyloidosis (ATTR amyloidosis) is a rare disease characterised by extracellular deposition of amyloid fibrils composed by transthyretin. ATTR amyloidosis can be sub-classified as wild-type ATTR (ATTR-wt) or as hereditary amyloidosis (ATTR-m); the prevalence of both types are likely underestimated. There are tools that can help us to study ATTR-m, as gnomAD database.

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