CardioGenetics

Every inherited cardiomyopathy evaluation warrants meticulous, accurate, and evidence-based risk stratification. CardioGenetics compiles validated calculators, diagnostic frameworks, and a live clinical trial finder in your pocket.

USED AT THE BEDSIDE
Whether you are presenting at a multidisciplinary cardiomyopathy board, interpreting a new pathogenic variant, or seeing your first LMNA patient, CardioGenetics gives the same tools with the evidence and models behind every number.

ASCVD RISK ALIGNED WITH THE 2026 GUIDELINES
Calculate 10-year risk with AHA PREVENT (ages 30–79), compare against the legacy Pooled Cohort Equations, integrate coronary artery calcium via the MESA score, and interpret Lipoprotein(a) with a built-in risk multiplier. Every result maps directly to the 2026 ACC/AHA dyslipidemia guideline statin thresholds, risk-enhancing factors, and CAC decision pathways.

GENE-SPECIFIC SUDDEN CARDIAC DEATH RISK
Not all cardiomyopathies carry the same arrhythmic risk. CardioGenetics includes dedicated calculators for HCM (ESC 2014 Risk-SCD), ARVC (Cadrin-Tourigny), LMNA (Wahbi, ESC 2023-adapted), PLN p.Arg14del (Verstraelen), DSP (ERADOS, Eur Heart J 2024), FLNC (Gigli, JAMA Cardiol 2025), and PKP2-specific guidance. Each cross-referenced to the latest ESC 2023 and AHA/ACC 2024 guidelines.

DIAGNOSTIC FRAMEWORKS AT YOUR FINGERTIPS
Confirm diagnoses before you risk-stratify. Built-in criteria include the 2020 Padua Criteria for arrhythmogenic cardiomyopathy, AHA/ACC 2024 and ESC 2023 HCM diagnostic standards, LVNC scoring (Jenni, Petersen, Stöllberger), and DCM phenotyping.

FIND THE RIGHT CLINICAL TRIAL
Browse actively enrolling studies for Lp(a), HCM, ACM/ARVC, DSP, LMNA, and PLN with interactive U.S. state and European enrollment maps. Every trial includes its NCT identifier and a direct link to ClinicalTrials.gov.

DESIGNED FOR WHAT WE ACTUALLY DO IN CLINIC

• Search any calculator, diagnosis, or trial from a single search bar
• Tap a risk score and see the full mathematical model, original citation, and DOI
• View sensitivity analyses and interactive risk curves
• Share lay-language summaries during patient-facing discussions
• Cross-navigate between diagnostic confirmation and risk stratification in one tap

TRUST BUT VERIFY:
Every calculator reproduces its published equation with full variable definitions and baseline coefficients. There are no "black boxes" here, no proprietary modifications. Tap any citation to access the original published manuscript.

INTENDED USERS:
Cardiologists · Electrophysiologists · Genetic Counselors · Cardiology Fellows and Residents · Medical Students · Advanced Practice Providers · Inherited Cardiovascular Disease Teams

Developed by Mark E. Pepin, MD, PhD, FESC. All risk models are derived from peer-reviewed literature and their original sources. This app is a clinical decision-support aid for healthcare professionals and does not replace clinical judgment, institutional protocols, or shared decision-making. Not FDA-cleared or CE-marked.

• Variant Review! Search a gene or a specific variant, and learn what is known and predicted regarding its pathogenicity. Known clinical significance from ClinVar with review-confidence stars, population frequency from gnomAD, and computed pathogenicity (REVEL, AlphaMissense, CADD). You can also simply search a gene symbol to browse all of its pathogenic and likely-pathogenic variants. Each variant includes an "About this gene" summary of normal function and an interactive 3D protein structure (AlphaFold) with the variant residue highlighted.

Improvements and fixes

• Refined sudden-cardiac-death risk guidance for HCM, DSP, and PLN, with corrected ICD thresholds and clearer alerts when an entry falls outside a model's validated population.
• Uupdated clinical trials using those published on ClinicalTrials.gov, with recruitment-site maps and newly enrolling studies.