Related Experiment Video

Updated: Feb 5, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

8.1K

Seven factors predict a delayed diagnosis of cardiac amyloidosis

Eve Bishop1, Emily E Brown2, Johana Fajardo3

  • 1a Division of Cardiovascular Pathology, Department of Pathology , Johns Hopkins University , Baltimore , MD , USA.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis
|September 1, 2018
PubMed

Insights

Diagnosing cardiac amyloidosis (CAm) takes too long, especially for transthyretin (ATTR) amyloidosis. Delays in CAm diagnosis negatively impact cardiac function and are linked to carpal tunnel syndrome.

Area of Science:

  • Cardiology
  • Medical Diagnostics
  • Amyloidosis Research

Background:

  • Cardiac amyloidosis (CAm) diagnosis is often delayed, posing clinical challenges.
  • Investigating factors contributing to diagnostic delay and its patient implications is crucial.

Purpose of the Study:

  • To identify clinical features associated with delayed diagnosis of cardiac amyloidosis.
  • To determine if diagnostic delay negatively impacts patient outcomes and cardiac function.

Main Methods:

  • Retrospective chart review of 82 patients with biopsy-proven and mass spectrometry-identified CAm.
  • Analysis of clinical, epidemiological data, and pathology slide scoring for amyloid extent.
  • Statistical analyses including generalized linear and ordered logistic regression.

Main Results:

  • Median diagnostic delay was 22 months, significantly longer (34 months) for transthyretin (ATTR) amyloidosis.
  • Predictors of delay included ATTR type, carpal tunnel syndrome, and age <70 at symptom onset.
  • Delayed diagnosis (1+ year) correlated with elevated NT-proBNP and longer PR intervals.

Conclusions:

  • Diagnostic delays in CAm adversely affect cardiac function.
  • Carpal tunnel syndrome is a frequent predictive feature warranting aggressive CAm evaluation.
  • Early identification of CAm is essential to mitigate negative cardiac consequences.
Abstract

Keywords:
Amyloidamyloidosiscarpal tunnelheartlight chain amyloidtransthyretin

More Related Videos

Direct Pressure Monitoring Accurately Predicts Pulmonary Vein Occlusion During Cryoballoon Ablation11:03

Direct Pressure Monitoring Accurately Predicts Pulmonary Vein Occlusion During Cryoballoon Ablation

Published on: February 26, 2013

20.5K
Cardiac Magnetic Resonance for the Evaluation of Suspected Cardiac Thrombus: Conventional and Emerging Techniques06:29

Cardiac Magnetic Resonance for the Evaluation of Suspected Cardiac Thrombus: Conventional and Emerging Techniques

Published on: June 11, 2019

11.1K

Related Concept Videos

Predicting Molecular Geometry02:27

Predicting Molecular Geometry

VSEPR Theory for Determination of Electron Pair Geometries
46.0K
Prediction Intervals01:03

Prediction Intervals

The interval estimate of any variable is known as the prediction interval. It helps decide if a point estimate is dependable.
However, the point estimate is most likely not the exact value of the population parameter, but close to it. After calculating point estimates, we construct interval estimates, called confidence intervals or prediction intervals. This prediction interval comprises a range of values unlike the point estimate and is a better predictor of the observed sample value, y. 
3.4K
Nursing Diagnosis01:22

Nursing Diagnosis

Following assessment, a nursing diagnosis is the next step in the nursing process. It begins after the nurse has collected and recorded the patient data. The purpose of diagnosing is to identify how the client responds to actual or potential health processes, identify factors that bestow or that cause health problems, the etiologies, and identify resources or strengths the individual, group, or community can draw on to prevent or resolve problems.
The nursing diagnosis focuses on evidence-based...
4.1K
Transcription Factors02:16

Transcription Factors

Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
82.8K
End Point Prediction: Gran Plot01:07

End Point Prediction: Gran Plot

A Gran plot is used to predict the equivalence volume or endpoint of a potentiometric or acid-base titration without reaching the endpoint. Typically, titration data is collected as a function of the titrant's volume up to a point less than the equivalence volume and then transformed into a linear format. The straight line is extended to the x-axis, indicating the necessary titrant volume to achieve the equivalence point.
For potentiometric titration, the Gran plot is created by plotting...
1.2K
Sensitivity, Specificity, and Predicted Value01:13

Sensitivity, Specificity, and Predicted Value

In healthcare diagnostics, laboratory tests play a crucial role in identifying and diagnosing a wide range of medical conditions. However, interpreting test results is not always straightforward. An abnormal test result does not always confirm the presence of a disease, just as a normal result does not guarantee its absence. To assess the reliability of these diagnostic tools, healthcare practitioners rely on two key statistical indicators: sensitivity and specificity.
Sensitivity is the...
1.4K