Related Experiment Video
Updated: Feb 15, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Platelet Function Analyzer 100 and Brain Natriuretic Peptide as Biomarkers in Obstructive Hypertrophic Cardiomyopathy
Joseph L Blackshear1, Robert E Safford1, Colleen S Thomas2
1Division of Cardiovascular Diseases, Department of Medicine, Mayo Clinic Florida, Jacksonville, Florida.
Insights
Dual blood biomarkers, platelet function analyzer (PFA) and B-type natriuretic peptide (BNP), show high accuracy for hypertrophic cardiomyopathy (HC) screening. PFA and BNP combined offer superior sensitivity and specificity compared to electrocardiogram (ECG) for obstructive HC detection.
Area of Science:
- Cardiology
- Biomarker Discovery
- Genetic Cardiology
Background:
- Hypertrophic cardiomyopathy (HC) is a significant cause of heart disease.
- Current screening methods like electrocardiogram (ECG) have limitations in sensitivity and specificity.
- There is a need for more effective screening tools for early detection of HC.
Purpose of the Study:
- To evaluate the efficacy of dual blood biomarkers, platelet function analyzer (PFA)-100 and normalized B-type natriuretic peptide (BNP/ULN), for hypertrophic cardiomyopathy (HC) screening.
- To compare the diagnostic performance of these biomarkers against the electrocardiogram (ECG).
Main Methods:
- Measured PFA-100 and BNP/ULN in patients with HC and normal controls (NCs).
- Derived estimated PFA from a regression equation with PFA and gradient.
- Calculated sensitivity and specificity of single and dual biomarkers (PFA × BNP/ULN) compared to ECG in various HC classifications (obstructive, latent, nonobstructive).
Main Results:
- The product of PFA × BNP/ULN showed near-complete separation of values between obstructive HC patients and NCs.
- Estimated PFA × BNP/ULN achieved 93% sensitivity and 100% specificity for class I obstructive HC, significantly outperforming ECG (71% sensitivity).
- BNP/ULN was elevated in HC patients regardless of mutation status or family history, indicating no specific elevation based on these factors.
Conclusions:
- Platelet function analyzer (PFA) and B-type natriuretic peptide (BNP) are strongly associated with obstructive hypertrophic cardiomyopathy (HC) and show potential for screening.
- The combined use of PFA and BNP/ULN demonstrates superior diagnostic accuracy compared to ECG for HC screening, particularly in obstructive forms.
- BNP levels are not uniquely elevated in familial or mutation-positive HC, suggesting its utility is primarily in assessing cardiac strain rather than genetic predisposition.
Abstract:
To test dual blood biomarkers compared with electrocardiogram (ECG) for hypertrophic cardiomyopathy (HC) screening, we performed 3 analyses and cut-point assessments. First, we measured platelet function analyzer (PFA)-100 (n = 99) and normalized B-type natriuretic peptide (BNP) or NT-proBNP (BNP/upper limit of normal [ULN], n = 92) in 64 patients with HC and 29 normal controls (NCs). Second, from the regression equation between PFA and gradient (r = 0.77), we derived estimated PFA in a population of 189 patients with functional class I HC in whom measured BNP/ULN and ECG were available, and calculated single and dual biomarker sensitivity and specificity compared with ECG. Finally, we compared BNP/ULN in class I patients based on mutation and familial history status. In 42 patients with obstructive HC versus NCs, there was a slight overlap of PFA and BNP/ULN, but for the product of PFA × BNP/ULN, there was near-complete separation of values. Among patients with class I obstructive HC, estimated PFA × BNP/ULN had a sensitivity of 93% and a specificity of 100%; in latent and nonobstructive HC, sensitivity dropped to 61% and 72%; for ECG in obstructive, latent, and nonobstructive HC, sensitivity was 71%, 34%, and 67%. Functional class I patients with positive (n = 28) and negative (n = 36) sarcomere mutations and a positive (n = 71) or a negative (n = 109) family history had significant elevations of BNP/ULN versus NC, with no between-group differences. In conclusion, PFA and BNP were highly associated with obstructive HC and could potentially be used for screening; BNP was not uniquely elevated in patients with familial versus nonfamilial or mutation-positive versus mutation-negative HC.
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Structure and Function of Platelets
Platelets are continually replenished, circulating in the bloodstream for 9-12 days before being removed by phagocytes, primarily in the spleen. A microliter of circulating blood contains between 150,000 and 450,000...
Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
Cardiomyopathy II: Dilated Cardiomyopathy
Cardiomyopathy IV: Restrictive Cardiomyopathy
Peptide Bonds

