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Related Experiment Video

Updated: Sep 14, 2025

Performing and Processing FNA of Anterior Fat Pad for Amyloid

Performing and Processing FNA of Anterior Fat Pad for Amyloid

Published on: October 30, 2010

Challenges in Diagnosing Systemic Amyloidosis.

Catarina Gregório¹, Ana Beatriz Garcia¹, Marta Vilela¹

¹Department of Cardiology, Hospital de Santa Maria (ULSSM), CAML, CCUL@RISE, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.

JACC. Case Reports

|July 18, 2025

Summary

This summary is machine-generated.

Diagnosing cardiac amyloidosis can be challenging, especially for non-transthyretin types. This case highlights the need for improved diagnostic methods for better patient outcomes in systemic amyloidosis.

Keywords:

cardiac amyloidosis heart failure mass spectrometry monoclonal gammopathy of undetermined significance subtyping

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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

Area of Science:

Cardiology
Medical Diagnostics
Amyloidosis Research

Background:

Cardiac amyloidosis diagnosis relies on nuclear scintigraphy for transthyretin amyloid cardiomyopathy.
Histologic confirmation and amyloid subtype identification are crucial for other subtypes or nondiagnostic scintigraphy.
Accurate diagnosis is essential for initiating targeted therapy and improving patient prognosis.

Observation:

A 66-year-old male presented with heart failure and left ventricular hypertrophy, indicating systemic amyloidosis.
Despite extensive investigations including multiple biopsies and mass spectrometry, the specific amyloid subtype remained unidentified.
The patient's condition worsened significantly, necessitating multiple hospitalizations.

Findings:

The case underscores the diagnostic difficulties associated with cardiac amyloidosis.
Unidentified amyloid subtype precluded timely, targeted treatment.
Delayed diagnosis correlated with rapid clinical deterioration and poor prognosis.

Implications:

Advanced diagnostic techniques are vital for timely and accurate cardiac amyloidosis diagnosis.
Improved diagnostic capabilities can lead to earlier therapeutic interventions.
Addressing diagnostic challenges in amyloidosis is key to enhancing patient survival and quality of life.