Hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a type of cardiomyopathy and is the leading cause of sudden death (from arrhythmias) in infants, teenagers and young adults. 

There is no gender predilection and has a prevalence of around 0.3-0.5% in the general population 4.

Hypertrophic cardiomyopathy is characterised by left ventricular hypertrophy (wall thickness >12-15 mm; normal wall thickness is 12 mm or less, measured during diastole) without obvious aetiology. Associated right ventricular hypertrophy may be seen in 15-17% of cases.

Genetics

Hypertrophic cardiomyopathy is a genetic disorder involving the cardiac sarcomere. Mutations in a group of related genes that make up the cardiac sarcomere are found in up to 60% of individuals with a family history of HCM and 30% of those without a family history. Commonly affected genes include 12:

  • MYBPC3 (myosin binding protein): 30%-40%, chromosome 11
  • MYH7 (myosin heavy chain): 20%-30%, chromosome 14
  • TNNT2 (cardiac muscle troponin): ~10%, chromosome 1
  • TNNI3 (troponin I type 3): ~7%, chromosome 19
  • MYL2 (myosin light chain 2): ~4%, chromosome 12
  • MYL3 (myosin light chain 3): ~2%, chromosome 3
  • TPM1 (tropomysin 1): ~1%, chromosome 15
Sub types

Morphologically there are several recognised sub types or phenotypes of hypertrophic cardiomyopathy. It may be classified as 4,12:

  • asymmetric HCM
    • most common morphologic variant (accounts for up to 60%-70% of cases)
    • disproportionately enlarged ventricular septum, with the anteroseptal myocardium most commonly involved
    • septal hypertrophy can be limited to the subaortic, midventricular, or apical regions
    • in adults, septal wall thickness is greater than or equal to 15 mm or when the ratio of the septal thickness to the thickness of the inferior wall at the midventricular level is greater than 1.5
    • in children, septal wall thickness is greater than or equal to two standard deviations above the mean for age, sex, or body size (z score ≥ 2)
  • symmetrical or concentric HCM
    • second most common
    • characterised by diffuse left ventricular wall thickening with associated decrease in left ventricular cavity size
    • diagnosis should be made in the absence of a secondary cause like hypertension, aortic stenosis, or the patient being an endurance athlete
  • apical HCM
    • left ventricular wall thickening is predominantly confined to the apex
    • apical thickness ≥15 mm
    • ratio of apical wall thicknesses to basal wall thicknesses of 1.3-1.5
  • mid ventricular HCM
    • rare
    • characterised by left ventricular hypertrophy predominantly localised in the midmyocardial segment
    • gives a characteristic hourglass or dumbbell shape to the left ventricle at cardiac CT and MRI
    • can lead to midcavity obstruction
  • mass-like HCM 4,12 / tumefactive HCM 8
    • there is exuberant focal thickening of a segment of the left ventricular wall, simulating a cardiac mass
    • cardiac CT and MRI play a crucial role in differentiating this form of HCM from a cardiac tumor. The following features of mass-like HCM can be useful in differentiation from a suspected cardiac mass:
      • presence of contractility
      • isointense to myocardium on T1- and T2-weighted images
      • first-pass enhancement
      • patchy and midventricular type of delayed enhancement
      • absence of calcification on CT 

Another method is a four-pattern model 10:

  • septal hypertrophy alone ~45% 
  • septal and other segments hypertrophy but sparing the apex : ~ 16%
  • apical segments along with any other segment hypertrophy: ~ 27%
  • apical hypertrophy alone: ~ 13% 
Associations
  • left ventricular outflow tract (LVOT) obstruction is present in 70% of cases 12. It is defined as a gradient greater than 30 mmHg
  • can be associated with SAM (systolic anterior motion) of the anterior mitral leaflet, which can increase LVOT obstruction and decreased coronary and systemic outflow. 
  • Other secondary signs include: 
    • mitral regurgitation
    • left auricle dilation
Plain radiograph

Chest radiographic findings can vary from a normal to enlarged heart. Chest radiographs are more useful in identifying complications of cardiomyopathy, such as pulmonary oedema.

Echocardiography

Echocardiography is the initial and most common imaging modality used in the evaluation of HCM due to its practical utility, availability, and high temporal resolution 12. It is used for evaluation of LVOT gradients and obstruction abnormalities, especially during physiologic provocation.

Cardiac MRI

Cardiac MRI, with its capabilities in evaluating cardiac morphology and function, has emerged as a technique particularly well suited to HCM diagnosis and phenotypic characterisation. It is superior to echocardiography in identifying areas of segmental hypertrophy not reliably visualised or underestimated by echocardiography (i.e. anterolateral and apical segments). MRI is useful in evaluating HCM patients with thin-walled scarred left ventricular apical aneurysms, end-stage systolic dysfunction, massive left ventricular wall hypertrophy, associated thickening of the right ventricular wall as well as substantial morphologic diversity with regard to papillary muscles and mitral valve. 

MRI can also demonstrate systolic anterior motion (SAM) of mitral valve, which along with basal septal hypertrophy, results in LVOT obstruction. Mitral regurgitation may also be noted.

Cardiac MRI plays a key role in risk stratification 12. Negative prognostic indicators in high-risk patients include:

  • left ventricular wall thickness ≥30 mm
  • gradient across LVOT ≥30 mmHg
  • delayed wall enhancement which represent fibrosis
  • decreased ejection fraction to <50% (burned-out phase)
  • presence of left ventricular apical aneurysms

Cardiac MRI has a role in asymptomatic HCM mutation carriers by identifying phenotypic markers of HCM in the absence of left ventricular hypertrophy including:

  • myocardial crypts 12
  • elongated mitral valve leaflets
  • late gadolinium enhancement
Cardiac CT

ECG-gated cardiac CT is not routinely performed for HCM. It does not provide information on fibrosis and the flow dynamics. However, cardiac CT offers excellent spatial resolution and serves as an alternative modality in patients in whom MRI is contraindicated 12.

Treatment depends on the severity of the disease. The goal is to relieve symptoms and prevent sudden cardiac death in high-risk patients. Base of treatment is to control heart rate by avoiding extreme physical effort and by giving medications (e.g. beta-blockers). Other treatment options include septal myectomy, septal ablation (alcohol arterial embolisation), and placement of implantable cardioverter-defibrillator device.

  • systemic hypertension: commonest cause of concentric LV hypertrophy

  • athlete's heart: maximal wall thickness usually 13-15 mm. normal diastolic function. detraining can regress the hypertrophy

  • infiltrative cardiomyopathy: can cause systolic and diastolic dysfunction. fabry disease, hemochromatosis (abnormal T2*), amyloidosis, glycogen storage diseases...

  • aortic stenosis: mri demonstrates restricted aortic leaflet excursion with elevated transvalvular gradients

Hypertrophic cardiomyopathy was first described and originally termed idiopathic hypertrophic subaortic stenosis (IHSS) by Brent et al in 1960 11,12. The term hypertrophic cardiomyopathy (HCM) came into common use in the latter half of the 1980s replacing IHSS, which was considered an inappropriate characterisation.

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Article Information

rID: 6638
System: Cardiac
Synonyms or Alternate Spellings:
  • HOCM
  • Hypertrophic obstructive cardiomyopathy (HOCM)
  • Hypertrophic cardiomyopathy (HCM)
  • Hypertrophic non-obstructive cardiomyopathy (HNCM)
  • HCM
  • Idiopathic hypertrophic subaortic stenosis (IHSS)
  • Familial hypertrophic cardiomyopathy

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