Hypertrophic cardiomyopathy diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Soroush Seifirad, M.D.[2]

Diagnostic Study of Choice

Schematic summarizing the general approach to the diagnosis of hypertrophic cardiomyopathy: ESC 2014: Authors' reproduction of the schematic based on the European Society of Cardiology (ESC) Guidelines on the diagnosis and management of hypertrophic cardiomyopathy (European Heart Journal (2014) 35, 2733–2779 - doi 10.1093/eurheartj/ehu284)

There is no single study of choice in the diagnosis and management of patients with HCM. In fact a series of studies are indicated the time of diagnosing HCM among them are Echocardiograhy and ECG.

ESC Recommended tests in patients with definite or suspected HCM

• Standard 12-lead electrocardiography.
• Trans-thoracic 2-D and Doppler echocardiography (including assessment of left ventricular outflow tract obstruction at rest and during Valsalva manoeuvre in the sitting and semi-supine positions).
• Upright exercise testing
• 48-hour ambulatory ECG monitoring.
• Cardiac magnetic resonance imaging should be considered if local resources and expertise permit.

The followings are fundamentals of diagnostic studies:

• Diagnosing HCM
• To study the presence or severity of left ventricular outflow tract (LVOT) obstruction
• Tostudy the presence or severity of mitral regurgitation
• To evaluate the risk of developing arrhythmia (either SVT or VT)
• To examine LV function

Study of choice

There is no single diagnostic study of choice for the diagnosis of hypertrophic cardiomyopathy, but hypertrophic cardiomyopathy can be diagnosed based on clinical examination, imaging, ECG, and and genetic testing .In fact a series of studies are indicated the time of diagnosing HCM among them are Echocardiograhy and ECG. Echocardiography is the imaging study of choice for the diagnosis of hypertrophic cardiomyopathy. However, MRI might detect HCM sooner, and as mentioned above genetic tests are also helpful.

The following result of Echocardiography/MRI is confirmatory of hypertrophic cardiomyopathy:

• LVH
• Systolic anterior motion of the mitral valve
• Asymmetric thickening of the intervertricular wall.
• Out follow obstruction, Pseudo sub-aortic stenosis
• LVOT obstruction
• LA enlargement (increase adverse effects of HCM including development of AF)(>48 mm transverse dimension or ≥118 mL chamber volume)

Investigations:

• Among the patients who present with clinical signs of Hypertrophic cardiomyopathy, the [investigation name] is the most specific test for the diagnosis.
• Among the patients who present with clinical signs of Hypertrophic cardiomyopathy, the [investigation name] is the most sensitive test for diagnosis.
• Among the patients who present with clinical signs of Hypertrophic cardiomyopathy, the [investigation name] is the most efficient test for diagnosis.

The comparison of various diagnostic studies for Hypertrophic cardiomyopathy

Test	Sensitivity	Specificity
Test 1	...%	...%
Test 2	...%	...%

[Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity

Diagnostic results

The following finding(s) on performing [investigation name] is(are) confirmatory for Hypertrophic cardiomyopathy:

• [Finding 1]
• [Finding 2]

Sequence of Diagnostic Studies

The [name of investigation] must be performed when:

• The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
• A positive [test] is detected in the patient, to confirm the diagnosis.

OR

The various investigations must be performed in the following order:

• [Initial investigation]
• [2nd investigation]

Name of Diagnostic Criteria

It is recommended that you include the criteria in a table. Make sure you always cite the source of the content and whether the table has been adapted from another source.

Hypertrophic cardiomyopathy is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of Hypertrophic cardiomyopathy.

OR

There is no single diagnostic study of choice for Hypertrophic cardiomyopathy, though Hypertrophic cardiomyopathy may be diagnosed based on [name of criteria] established by [...].

OR

The diagnosis of Hypertrophic cardiomyopathy is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].

OR

The diagnosis of Hypertrophic cardiomyopathy is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].

OR

Hypertrophic cardiomyopathy may be diagnosed at any time if one or more of the following criteria are met:

• Criteria 1
• Criteria 2
• Criteria 3

OR

IF there are clear, established diagnostic criteria

The diagnosis of Hypertrophic cardiomyopathy is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].

OR

The diagnosis of Hypertrophic cardiomyopathy is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].

OR

The diagnosis of Hypertrophic cardiomyopathy is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].

OR

IF there are no established diagnostic criteria

There are no established criteria for the diagnosis of Hypertrophic cardiomyopathy.