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]
Overview
Diagnostic Study of Choice
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[1]
- 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.[1]
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 genetic testing.In fact, a series of studies are indicated the time of diagnosing HCM among them are Echocardiography 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 interventricular wall.
- Out follow obstruction, Pseudo sub-aortic stenosis
- LVOT obstruction
- LA enlargement (increase adverse effects of HCM including the development of AF)(>48 mm transverse dimension or ≥118 mL chamber volume)[2]
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 result of Echocardiography/MRI is confirmatory of hypertrophic cardiomyopathy:
- LVH
- Systolic anterior motion of the mitral valve
- Asymmetric thickening of the interventricular wall.
- Out follow obstruction, Pseudo sub-aortic stenosis
- LVOT obstruction
- LA enlargement (increase adverse effects of HCM including the development of AF)(>48 mm transverse dimension or ≥118 mL chamber volume)[2]
There are lots of unknown genetic abnormalities in patients with HCM but the followings are among known mutations:
Sequence of Diagnostic Studies
The diagnosis of HCM should be suspected if one of the followings exist:
- Family history of HCM
- Unexplained symptoms (ie, dyspnea, chest pain, fatigue, palpitations)
- Systolic ejection murmur
- Abnormal 12-lead electrocardiogram
- Syncope (or presyncope).
The presence of one or more of these clinical findings should prompt further testing with imaging (echocardiography and/or cardiac MRI) to confirm the diagnosis. Please not that the presence of increased left ventricular (LV) wall thickening ≥15 mm anywhere in the LV wall in the absence of any other identifiable cause such as hypertension or valve disease is consistent with a diagnosis of HCM, but the other common findings such as mitral valve systolic anterior motion (SAM) or hyperdynamic LV are not obligatory for an HCM diagnosis.
References
- ↑ 1.0 1.1 Authors/Task Force members. Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F; et al. (2014). "2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC)". Eur Heart J. 35 (39): 2733–79. doi:10.1093/eurheartj/ehu284. PMID 25173338.
- ↑ 2.0 2.1 Maron BJ, Haas TS, Maron MS, Lesser JR, Browning JA, Chan RH; et al. (2014). "Left atrial remodeling in hypertrophic cardiomyopathy and susceptibility markers for atrial fibrillation identified by cardiovascular magnetic resonance". Am J Cardiol. 113 (8): 1394–400. doi:10.1016/j.amjcard.2013.12.045. PMID 24589281.