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

There is no single study of choice in the diagnosis and management of patients with HCM. 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.

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[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]
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. Laboratory findings consistent with the diagnosis of hypertrophic cardiomyopathy may include but not limited to mutations in the genes involved in Beta-myosin heavy chain, Myosin binding protein C, and Cardiac troponin T. Genes involved in the pathogenesis of hypertrophic cardiomyopathy include:



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. 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.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  2. 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.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  3. Maron BJ, Moller JH, Seidman CE et al. Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases. Hypertrophic cardiomyopathy, long-QT syndrome, and Marfan syndrome. [A statement for healthcare professionals from the Councils on Clinical Cardiology, Cardiovascular Disease in the Young, and Basic Science, American Heart Association]. Circulation 1998;98:1460–71.
  4. Schwartz K, Carrier L, Guicheney P, Komajda M. Molecular basis of familial cardiomyopathies. Circulation 1995;91:532–40.
  5. Niimura H, Bachinski LL, Sangwatanaroj S et al. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 1998;338:1248–57.
  6. Thierfelder L, Watkins H, MacRae C et al. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy. A disease of the sarcomere. Cell 1994;77:701–12.
  7. Watkins H, McKenna WJ, Thierfelder L et al. Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 1995;332:1058–64.
  8. Charron P, Dubourg O, Desnos M et al. Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. Circulation 1998;97: 2230–6.
  9. Maron BJ, Niimura H, Casey SA et al. Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. J Am Coll Cardiol 2001;38:315–21.
  10. Anan R, Greve G, Thierfelder L et al. Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest 1994;93:280–5.
  11. Coviello DA, Maron BJ, Spirito P et al. Clinical features of hypertrophic cardiomyopathy caused by mutation of a “hot spot” in the alpha-tropomyosin gene. J Am Coll Cardiol 1997;29:635–40.
  12. Blair E, Redwood C, Ashrafian H et al. Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy. Evidence for the central role of energy compromise in disease pathogenesis. Hum Mol Genet 2001;10:1215–20.
  13. Erdmann J, Raible J, Maki-Abadi J et al. Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. J Am Coll Cardiol 2001;38:322–30.
  14. Gruver EJ, Fatkin D, Dodds GA et al. Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. Am J Cardiol 1999;83:13H–8H.
  15. Kimura A, Harada H, Park JE et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet 1997;16:379–82.
  16. Marian AJ, Roberts R. Recent advances in the molecular genetics of hypertrophic cardiomyopathy. Circulation 1995;92:1336–47.
  17. Niimura H, Patton KK, McKenna WJ et al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation 2002;105:446–51.

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