Is Hypertrophic Cardiomyopathy Really Passed Down from Your Parents?

By Sina Hartung, MMSC-BMI, Harvard Medical SchoolReviewed by Eureka Health Medical Group
Published: June 13, 2025Updated: June 13, 2025

Key Takeaways

Yes. About 60–70 % of hypertrophic cardiomyopathy (HCM) cases are caused by a single faulty gene inherited in an autosomal-dominant pattern—meaning one affected parent gives a child a 50 % chance of inheriting the condition. Genetic testing now identifies a disease-causing variant in roughly two-thirds of families with obvious HCM, allowing precise risk assessment for relatives.

Is hypertrophic cardiomyopathy usually inherited from parents?

Most of the time, yes. HCM is classically inherited in an autosomal-dominant pattern, so just one copy of a disease-causing variant from either mother or father is enough to cause the condition. Around one-third of people have no detectable mutation, but many of those still show familial clustering, suggesting undiscovered genes.

  • Single-gene errors dominate HCM inheritancePathogenic variants in the MYH7 or MYBPC3 genes account for nearly 50 % of inherited cases.
  • A 50-50 chance for each childBecause the inheritance is autosomal dominant, every pregnancy carries a 50 % risk if one parent is known to carry the variant.
  • Penetrance rises with ageOnly about 30 % of carriers show heart wall thickening before age 30, but penetrance exceeds 80 % by age 60.
  • De-novo mutations are uncommonFewer than 5 % of patients have a brand-new mutation not found in either parent, making true sporadic HCM rare.
  • HCM affects about 1 in 500 peoplePopulation studies place the prevalence of hypertrophic cardiomyopathy at roughly 0.2 %—about one person in every 500—underscoring how common this inherited heart disease is. (HFSA)

Which family findings should raise an immediate red flag for inherited HCM?

Certain symptoms in relatives strongly suggest a heritable cardiomyopathy and warrant fast medical review. Ignoring them can delay lifesaving therapy.

  • Unexplained sudden cardiac death under age 50If a first-degree relative died suddenly, the odds of an undiagnosed HCM reach 1 in 5.
  • Fainting during exerciseExercise-related syncope in a known gene carrier predicts a five-fold rise in ventricular arrhythmia risk.
  • Unexplained heart murmur in a siblingA loud systolic murmur at the left sternal border can be the first detectable sign of left-ventricular outflow obstruction.
  • Progressive shortness of breath despite normal blood pressureDyspnea on exertion is often misattributed to asthma but actually reflects diastolic dysfunction in HCM.
  • Documented sarcomere mutation in a parent confers 50 % inheritance riskBecause HCM follows autosomal-dominant transmission, every child of an affected parent has a one-in-two chance of carrying the pathogenic variant, making early cascade screening essential. (HCMA)
  • Pacemaker or ICD implantation before age 40 in a relative signals occult arrhythmic HCMEarly device therapy for ventricular arrhythmia in young family members often reflects undiagnosed hypertrophic cardiomyopathy and should prompt comprehensive family evaluation. (ACC)

How can someone with a family history of HCM lower personal risk?

Lifestyle changes do not alter the genetic mutation, but they do reduce symptom burden and arrhythmia triggers. Regular follow-up catches early wall thickening before complications set in.

  • Schedule serial echocardiogramsRelatives without wall thickening should repeat imaging every 2–3 years until age 30, then every 5 years afterwards.
  • Avoid burst-type high-intensity sportsActivities like competitive basketball triple sudden death risk in adolescents with HCM.
  • Manage blood pressure meticulouslyEven mild hypertension can exaggerate septal thickening; keeping systolic pressure below 120 mm Hg is advisable.
  • Adhere to weight-neutral exerciseModerate-intensity cycling or swimming keeps conditioning without provoking outflow gradients.
  • Seek expert genetic counselingCounselors explain variant significance and help relatives decide on predictive testing.
  • Each child of an affected parent faces a 50% inheritance riskBecause HCM is usually autosomal-dominant, every offspring has a one-in-two chance of carrying the family mutation; those who test positive need lifelong cardiac surveillance, while those who test negative can avoid serial imaging. (AHA)
  • Baseline ECG plus echocardiography is advised for all first-degree relativesInitial screening with both an electrocardiogram and an echocardiogram helps uncover early electrical or structural abnormalities even before left-ventricular wall thickening appears. (HCMA)

Which tests and treatments confirm or manage inherited HCM?

Diagnosis starts with imaging and may be refined by gene panels. Treatment focuses on controlling obstruction and preventing arrhythmias; choice depends on gradient severity and symptoms.

  • Echocardiography defines wall thicknessA septal thickness ≥15 mm in adults (or z-score ≥3 in children) is diagnostic.
  • Cardiac MRI spots scar tissueLate gadolinium enhancement exceeding 15 % predicts a two-fold higher sudden death risk.
  • Next-generation sequencing panelsPanels covering at least 30 sarcomere genes find pathogenic variants in 60–70 % of typical cases.
  • Beta-blockers remain first-line therapyThey reduce heart rate and outflow gradient, improving exercise tolerance in 70 % of patients.
  • ICD placement for high-risk profilesImplantable cardioverter-defibrillators cut sudden death rates from 4 % per year to under 1 % in those with multiple risk markers.
  • Predictive genetic testing streamlines family surveillanceWhen a pathogenic variant is identified in the proband, guidelines recommend cascade testing of first-degree relatives so that only genotype-positive family members continue lifelong imaging follow-up. (Heart)
  • Septal reduction therapy relieves obstruction when drugs failFor patients who remain symptomatic with an LV outflow gradient ≥50 mm Hg despite beta-blockers or calcium-channel blockers, surgical myectomy or alcohol septal ablation provide durable gradient relief and NYHA class improvement. (JACC)

Frequently Asked Questions

This content is for informational purposes only and is not intended as medical advice. Always consult with a qualified healthcare provider for diagnosis, treatment, and personalized medical recommendations.

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