cliot (version 1.0.0)

primacy_cardiomyopathy_score: PRIMACY Score for Dilated Cardiomyopathy Genetic Yield

Description

Calculates the PRIMACY (Precision Medicine Study in Cardiomyopathy) score to predict the probability of identifying a pathogenic or likely pathogenic genetic variant in patients with Dilated Cardiomyopathy (DCM). The score utilizes clinical, electrocardiographic, and imaging features to stratify the yield of genetic testing.

Usage

primacy_cardiomyopathy_score(sex, age_at_diagnosis, skeletal_myopathy,
                             family_history_dcm, low_qrs_voltage,
                             conduction_defect, lge_on_cmr)

Value

A list containing:

PRIMACY_Probability

The estimated percentage probability of a positive genetic test result.

Interpretation

General risk categorization (Low, Intermediate, High).

Arguments

sex

String. Patient sex ("Male" or "Female").

age_at_diagnosis

Numeric. Age at the time of DCM diagnosis in years.

skeletal_myopathy

Numeric (0 or 1). Presence of clinical skeletal myopathy (e.g., muscle weakness, elevated CK not explained by other causes). (1 = Yes).

family_history_dcm

Numeric (0 or 1). Family history of DCM in a first- or second-degree relative. (1 = Yes).

low_qrs_voltage

Numeric (0 or 1). Presence of low QRS voltage on ECG (typically < 0.5 mV in limb leads). (1 = Yes).

conduction_defect

Numeric (0 or 1). Presence of cardiac conduction system disease (e.g., AV block, LBBB, RBBB). (1 = Yes).

lge_on_cmr

Numeric (0 or 1). Presence of Late Gadolinium Enhancement (LGE) on Cardiac MRI. (1 = Yes).

References

Mazzarotto F, et al. Reevaluating the Genetic Architecture of Dilated Cardiomyopathy: The Precision Medicine Study in Cardiomyopathy (PRIMACY). Circulation. 2020;141(6):387-398. doi:10.1161/CIRCULATIONAHA.119.041603

Examples

# Example 1: High Yield
# Female, 30yo, Family Hx, LGE present
primacy_cardiomyopathy_score("female", 30, 0, 1, 0, 0, 1)

# Example 2: Low Yield
# Male, 65yo, No other risk factors
primacy_cardiomyopathy_score("male", 65, 0, 0, 0, 0, 0)