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Condition report · Cardiovascular

Hypertrophic Cardiomyopathy

Whole genome sequencing identifies the sarcomere mutations driving hypertrophic cardiomyopathy, revealing risk in family members and guiding screening and treatment decisions.

A condition report looks for rare variants known to cause the conditions it covers.

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About this condition

A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiomyopathy and the leading cause of sudden cardiac death in young athletes. It affects approximately 1 in 500 people (1 in 250 when genetic screening is applied), though actual prevalence may be higher due to incomplete penetrance. HCM is characterized by unexplained left ventricular hypertrophy, typically with asymmetric septal thickening, in the absence of abnormal loading conditions. The condition follows autosomal dominant inheritance with variable expressivity and age-related penetrance: some variants have >90% penetrance by adulthood, while others remain clinically silent in some carriers.

Two genes, MYH7 and MYBPC3, together account for 70-80% of genetically identified HCM cases. MYH7 variants (encoding beta-myosin heavy chain) are predominantly missense mutations and are associated with higher penetrance, earlier disease onset, and more severe hypertrophy. MYBPC3 variants (encoding cardiac myosin-binding protein C) are predominantly truncating and associated with later onset but still significant disease. At least eight sarcomere genes are now recognized as HCM-causing, each with distinct penetrance and phenotypic implications. Approximately 60% of HCM is familial; the remaining cases result from de novo variants.

Identifying a sarcomere mutation has profound implications for patient care and family counseling. Genetic testing enables cascade screening of family members: asymptomatic relatives may harbor pathogenic variants and warrant initiation of serial cardiac surveillance with echocardiography and ECG. Once identified, carriers benefit from activity restriction (avoiding intense competitive sports), medical therapy with beta-blockers or calcium channel blockers, and periodic assessment. Genetic information also informs family planning, prenatal testing, and preimplantation genetic diagnosis for families with known mutations, offering reproductive options.

MYH7 and MYBPC3 variants differ markedly in their inheritance patterns and phenotypic severity: MYH7 typically earlier-onset and more severe, MYBPC3 later-onset but with significant progression risk.

The condition we analyse

Autosomal dominant

A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

What a diagnosis changes

Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

Genes analysed

Also known as

familial hypertrophic cardiomyopathy; hypertrophic subaortic stenosis; obstructive hypertrophic cardiomyopathy

Includes 108 related subtypes ↓
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  • 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
  • 46,XY sex reversal 1
  • 46,XY sex reversal 10
  • 46,XY sex reversal 11
  • 46,XY sex reversal 2
  • 46,XY sex reversal 3
  • 46,XY sex reversal 4
  • 46,XY sex reversal 5
  • 46,XY sex reversal 6
  • 46,XY sex reversal 7
  • 46,XY sex reversal 9
  • adult-onset Steinert myotonic dystrophy
  • AL amyloidosis
  • Beckwith-Wiedemann syndrome
  • Beckwith-Wiedemann syndrome due to 11p15 microdeletion
  • Beckwith-Wiedemann syndrome due to 11p15 microduplication
  • Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
  • Beckwith-Wiedemann syndrome due to CDKN1C mutation
  • Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
  • Beckwith-Wiedemann syndrome due to NSD1 mutation
  • Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
  • cardiofaciocutaneous syndrome
  • cardiofaciocutaneous syndrome 1
  • cardiofaciocutaneous syndrome 2
  • cardiofaciocutaneous syndrome 3
  • cardiofaciocutaneous syndrome 4
  • cardiomyopathy-hypotonia-lactic acidosis syndrome
  • cardiomyopathy, familial hypertrophic 27
  • cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction
  • cardiomyopathy, familial hypertrophic, 28
  • cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies
  • cardiomyopathy, familial hypertrophic, 30, atrial
  • cardiomyopathy, familial hypertrophic, 31
  • cardiomyopathy, familial restrictive, 5
  • childhood-onset Steinert myotonic dystrophy
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  • dilated cardiomyopathy 1C
  • dilated cardiomyopathy 1KK
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  • Franceschini Vardeu Guala syndrome
  • glutaric acidemia IIa
  • glutaric acidemia IIb
  • glutaric acidemia IIc
  • hypertrophic cardiomyopathy 1
  • hypertrophic cardiomyopathy 10
  • hypertrophic cardiomyopathy 11
  • hypertrophic cardiomyopathy 12
  • hypertrophic cardiomyopathy 13
  • hypertrophic cardiomyopathy 14
  • hypertrophic cardiomyopathy 15
  • hypertrophic cardiomyopathy 16
  • hypertrophic cardiomyopathy 17
  • hypertrophic cardiomyopathy 18
  • hypertrophic cardiomyopathy 19
  • hypertrophic cardiomyopathy 2
  • hypertrophic cardiomyopathy 20
  • hypertrophic cardiomyopathy 21
  • hypertrophic cardiomyopathy 25
  • hypertrophic cardiomyopathy 26
  • hypertrophic cardiomyopathy 3
  • hypertrophic cardiomyopathy 4
  • hypertrophic cardiomyopathy 6
  • hypertrophic cardiomyopathy 7
  • hypertrophic cardiomyopathy 8
  • hypertrophic cardiomyopathy 9
  • hypertrophic cardiomyopathy due to intensive athletic training
  • juvenile-onset Steinert myotonic dystrophy
  • late-onset Steinert myotonic dystrophy
  • Legius syndrome
  • LEOPARD syndrome 1
  • LEOPARD syndrome 2
  • LEOPARD syndrome 3
  • long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • long chain acyl-CoA dehydrogenase deficiency
  • multiple acyl-CoA dehydrogenase deficiency
  • multiple acyl-CoA dehydrogenase deficiency, mild type
  • multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
  • myotonic dystrophy type 1
  • non-familial hypertrophic cardiomyopathy
  • Noonan syndrome
  • Noonan syndrome 1
  • Noonan syndrome 10
  • Noonan syndrome 11
  • noonan syndrome 12
  • Noonan syndrome 13
  • Noonan syndrome 14
  • Noonan syndrome 2
  • Noonan syndrome 3
  • Noonan syndrome 4
  • Noonan syndrome 5
  • Noonan syndrome 6
  • Noonan syndrome 7
  • Noonan syndrome 8
  • Noonan syndrome 9
  • Noonan syndrome and Noonan-related syndrome
  • Noonan syndrome with multiple lentigines
  • Noonan syndrome-like disorder with loose anagen hair
  • Noonan syndrome-like disorder with loose anagen hair 1
  • Noonan syndrome-like disorder with loose anagen hair 2
  • primary localized amyloidosis
  • primary systemic amyloidosis
  • progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
  • very long chain acyl-CoA dehydrogenase deficiency
MONDO:0005045Orphanet 217569MedGen 2881

Why whole genome sequencing

Standard HCM panels cover 8-15 sarcomere genes but find mutations in only 30-60% of patients. Up to 70% remain genetically unresolved.

The responsible mutation may be in a gene the panel doesn't cover

Standard HCM panels typically include 8-15 sarcomere genes including MYH7, MYBPC3, ACTC1, TNNT2, TPM1, and others. However, a definitive genetic diagnosis is found in only 30-60% of clinically diagnosed HCM patients, leaving 40-70% with no identified genetic cause. This low yield reflects incomplete coverage (some newer disease genes), difficulty detecting deep intronic variants and regulatory changes, and the reality that some HCM cases involve copy number variants not detected by standard sequencing. Additionally, variant interpretation remains challenging: pathogenic variants in under-represented populations may be misclassified as variants of uncertain significance.

A finding enables family screening and disease management before symptoms

When a pathogenic sarcomere mutation is identified, it triggers cascade screening of first-degree relatives, identifying asymptomatic carriers who may harbor the same variant. Genetic information informs clinical management: carriers undergo serial echocardiographic surveillance, avoid intense competitive sports during childhood and adolescence, and are offered medical therapy if hypertrophy develops. Genetic counseling addresses family planning, prenatal testing options, and preimplantation genetic diagnosis (PGD) for couples seeking to avoid transmission. For families with a prior sudden death, identifying the mutation in relatives enables preventive intervention before a potentially fatal arrhythmia.

Other cardiovascular conditions

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