Suspect-and-test checklist
Hypertrophic cardiomyopathy
Heritable thickening of the heart muscle with no other cause. Start from a murmur that changes with Valsalva or standing, an abnormal ECG, exertional symptoms or an affected relative.
ICD-10-CMI42.1, I42.2Trial Friend for Clinicians
1Red flags present
Symptoms and history
Examination
ECG
Echocardiogram and MRI
Family
Clues to a mimic
2Already labeled as
3Family to test
4Testing, in the order the sources describe
- Family history, symptoms and risk historyThree generations: known HCM, murmur, sudden death. Ask about syncope and cardiac arrest.Result
- Examination with provocative maneuversMurmur increases with Valsalva and standing from a squat; 5 to 20 squat-to-stand repetitions.Result
- 12-lead ECGAbnormal in about 90%. Hypertrophy voltage, deep lateral T-wave inversions, deep Q waves, pre-excitation.Result
- Transthoracic echocardiogramAHA/ACC 2024 (as reported by Sanghvi 2025): 15mm or more in adults; 13 to 14mm with an affected relative or a pathogenic variant.Result
- Doppler outflow gradientObstruction is 30mmHg or more; 50mmHg generally needed to cause symptoms.Result
- Provocation, then exercise echocardiographyAHA/ACC 2024 (as reported by Sanghvi 2025): provocative maneuvers if resting gradient is under 50mmHg; exercise echo if symptomatic and still under 50mmHg.Result
- Cardiac MRIAHA/ACC: when echo is inconclusive or a mimic is suspected. ESC: at initial evaluation for all (both as reported by Sanghvi 2025).Result
- Z-scores in childrenAt least 2 standard deviations with family history or a positive genetic test; 2.5 or more without.Result
- Work-up for mimicsAtypical presentation: genetic testing for HCM and other genetic causes of hypertrophy.Result
- Genetic counseling and testingNot required for diagnosis. Pathogenic or likely pathogenic variant in 30% to 40%.Result
- Sudden death risk assessmentAHA/ACC 2024 (as reported by Sanghvi 2025): at first evaluation and every 1 to 2 years, using the guideline's listed risk factors.Result
- Echocardiogram before a cardiac myosin inhibitorCamzyos label: ejection fraction before and during treatment; REMS program.Result
5Results the sources say do not rule it out
- No gradient at rest. Of 201 patients under 50mmHg at rest, 106 obstructed after exercise.
- Negative Valsalva. It underestimated exercise-induced obstruction.
- Normal ECG. Found in almost 6% (Mayo Clinic) and 1.6% (Istanbul) of patients with HCM.
- Normal routine echocardiogram without contrast when T waves are inverted. Apical HCM can be missed.
- Negative genetic test. A causal variant was found in about 32% of 2912 probands.
- A hypertension label. In one registry 28% of patients with HCM also had hypertension.
- Wall under 15mm in a woman or at the apex. The threshold is not adjusted for sex or body size.
- Systolic anterior motion alone. Also seen in Fabry disease, amyloidosis and under dobutamine.
6Specialists the sources name
Diagnosis codes: I42.1 Obstructive hypertrophic cardiomyopathy; I42.2 Other hypertrophic cardiomyopathyCodes patients often carry before diagnosis are listed in the online guide.
Full guide and sourcesEvery point here is sourced in the online guide, which also has a patient note to print.
Trial Friend, trialfriend.com/for-clinicians. Key sources: AHA/ACC HCM guideline 2024; Guideline systematic review (Sanghvi 2025); Mayo Clinic review (Gilreath 2026); ANMCO position paper 2025; US claims study of delay (Naidu 2023); CARDIA study (Maron 1995); all 29 with links in the online guide. Checked November 13, 2026. A reference checklist for licensed clinicians that summarizes published sources. It is not a diagnostic tool, a score or a protocol, and it does not replace clinical judgment, local practice or the prescribing information. Not coding advice. Trial Friend never receives anything written or typed on this sheet.