Hypertrophic cardiomyopathy risk factors: Difference between revisions
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{{CMG}}; {{AE}} {{Soroush}} | {{CMG}}; {{AE}} {{Soroush}} | ||
==Overview== | ==Overview== | ||
Obstructive hypertrophic cardiomyopathy (HCOM) is known as a familial genetic disorder. The most potent risk factor in the development of hypertrophic cardiomyopathy aregenetic [[mutations]] in [[Myosin|Beta-myosin heavy chain]], [[Myosin]] binding protein C, [[Cardiac troponin|and Cardiac troponin T]]. Genes involved in the [[pathogenesis]] of [[hypertrophic cardiomyopathy]] include but not limited to [[MYH7]], [[TNNT2]], [[TPM1]]. However, [[hypertension]], [[thyroid disease]], [[Diabetes mellitus|diabetes]], and [[obesity]] also play a role in non obstructive forms of hypertrophic cardiomyopathy. This is in response to chronic effects of abnormal pressure and volumes on the [[myocardium]] and is different from apical hypertrophy (Yamaguchi syndrome). | |||
The most potent risk factor in the development of | |||
==Risk Factors== | ==Risk Factors== | ||
Obstructive hypertrophic cardiomyopathy (HCOM) is known as a familial genetic disorder. The most potent [[risk factor]] in the development of hypertrophic cardiomyopathy aregenetic mutations in [[Myosin|Beta-myosin heavy chain]], [[Myosin]] binding protein C, [[Cardiac troponin|and Cardiac troponin T]]. [[Genes]] involved in the [[pathogenesis]] of [[hypertrophic cardiomyopathy]] include but not limited to [[MYH7]], [[TNNT2]], [[TPM1]]. However, [[hypertension]], thyroid disease, [[Diabetes mellitus|diabetes]], and [[obesity]] also play a role in non obstructive forms of hypertrophic cardiomyopathy. This is in response to chronic effects of abnormal pressure and volumes on the [[myocardium]] and is different from apical hypertrophy (Yamaguchi syndrome). | |||
<br /> | |||
===Common Risk Factors=== | |||
*Common risk factors in the development of hypertrophic cardiomyopathy are genetic mutations in [[Myosin|Beta-myosin heavy chain]], [[Myosin]] binding protein C, [[Cardiac troponin|and Cardiac troponin T]]. | |||
*[[Genes]] involved in the [[pathogenesis]] of [[hypertrophic cardiomyopathy]] include: | |||
**[[MYH7]] | |||
**[[TNNT2]] | |||
**[[TPM1]] | |||
===Less Common Risk Factors (risk factors for non obstructive/non genetic forms of disease)=== | |||
*Less common risk factors in the development of non obstructive/non genetic hypertrophic cardiomyopathy include: | |||
**[[Hypertension]] | |||
**[[Thyroid disease]] | |||
**[[Diabetes mellitus|Diabetes]] | |||
===Common Risk Factors=== | **[[Obesity]] | ||
* | |||
**[ | |||
**[ | |||
**[ | |||
<br /> | |||
==Risk Factors for Sudden Cardiac Death== | ==Risk Factors for Sudden Cardiac Death== | ||
Patients with hypertrophic cardiomyopathy are increased risk of [[sudden cardiac death]]. Identification of those patients at an increased risk can facilitate early treatment with an [[automatic implantable cardiac defibrillator]]. | Patients with hypertrophic cardiomyopathy are increased risk of [[sudden cardiac death]]. Identification of those patients at an increased risk can facilitate early treatment with an [[automatic implantable cardiac defibrillator]]. | ||
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*An episode of aborted [[sudden death]] | *An episode of aborted [[sudden death]] | ||
*A family history of HCM with [[sudden death]] of relatives | *A family history of HCM with [[sudden death]] of relatives | ||
*Specific mutations in the genes encoding for [[troponin T]] and [[myosin]] | *Specific mutations in the [[genes]] encoding for [[troponin T]] and [[myosin]] | ||
*Sustained [[supraventricular tachycardia|supraventricular]] or [[ventricular tachycardia]] | *Sustained [[supraventricular tachycardia|supraventricular]] or [[ventricular tachycardia]] | ||
*Ventricular septal wall thickness over 3 cm | *Ventricular septal wall thickness over 3 cm | ||
Latest revision as of 18:52, 5 February 2020
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Risk calculators and risk factors for Hypertrophic cardiomyopathy risk factors |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Soroush Seifirad, M.D.[2]
Overview
Obstructive hypertrophic cardiomyopathy (HCOM) is known as a familial genetic disorder. The most potent risk factor in the development of hypertrophic cardiomyopathy aregenetic mutations in Beta-myosin heavy chain, Myosin binding protein C, and Cardiac troponin T. Genes involved in the pathogenesis of hypertrophic cardiomyopathy include but not limited to MYH7, TNNT2, TPM1. However, hypertension, thyroid disease, diabetes, and obesity also play a role in non obstructive forms of hypertrophic cardiomyopathy. This is in response to chronic effects of abnormal pressure and volumes on the myocardium and is different from apical hypertrophy (Yamaguchi syndrome).
Risk Factors
Obstructive hypertrophic cardiomyopathy (HCOM) is known as a familial genetic disorder. The most potent risk factor in the development of hypertrophic cardiomyopathy aregenetic mutations in Beta-myosin heavy chain, Myosin binding protein C, and Cardiac troponin T. Genes involved in the pathogenesis of hypertrophic cardiomyopathy include but not limited to MYH7, TNNT2, TPM1. However, hypertension, thyroid disease, diabetes, and obesity also play a role in non obstructive forms of hypertrophic cardiomyopathy. This is in response to chronic effects of abnormal pressure and volumes on the myocardium and is different from apical hypertrophy (Yamaguchi syndrome).
Common Risk Factors
- Common risk factors in the development of hypertrophic cardiomyopathy are genetic mutations in Beta-myosin heavy chain, Myosin binding protein C, and Cardiac troponin T.
- Genes involved in the pathogenesis of hypertrophic cardiomyopathy include:
Less Common Risk Factors (risk factors for non obstructive/non genetic forms of disease)
- Less common risk factors in the development of non obstructive/non genetic hypertrophic cardiomyopathy include:
Risk Factors for Sudden Cardiac Death
Patients with hypertrophic cardiomyopathy are increased risk of sudden cardiac death. Identification of those patients at an increased risk can facilitate early treatment with an automatic implantable cardiac defibrillator.
Risk Factors for Sudden Cardiac Death in Patients with Hypertrophic Cardiomyopathy
Risk factors for sudden death in individuals with HCM include:[1]
- A young age at first diagnosis (age < 30 years)
- An episode of aborted sudden death
- A family history of HCM with sudden death of relatives
- Specific mutations in the genes encoding for troponin T and myosin
- Sustained supraventricular or ventricular tachycardia
- Ventricular septal wall thickness over 3 cm
- A hypotensive response to exercise
- Recurrent syncope (especially in children)
- Bradyarrhythmias (slow rhythms of the heart).
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy (DO NOT EDIT)[2]
SCD Risk Stratification (DO NOT EDIT)[2]
| Class I |
| "1. All patients with HCM should undergo comprehensive SCD risk stratification at initial evaluation to determine the presence of the following:[3][4][5][6][7][8][9][10][11][12][13][14] (Level of Evidence: B)" a. A personal history for ventricular fibrillation, sustained VT, or SCD events, including appropriate ICD therapy for ventricular tachyarrhythmias b. A family history for SCD events, including appropriate ICD therapy for ventricular tachyarrhythmias. c. Unexplained syncope. d. Documented NSVT defined as 3 or more beats at greater than or equal to 120 bpm on ambulatory (Holter) ECG. e. Maximal LV wall thickness greater than or equal to 30 mm. |
| Class IIa |
| "1. It is reasonable to assess blood pressure response during exercise as part of SCD risk stratification in patients with HCM[3][15][11]. (Level of Evidence: B)" |
| "2. SCD risk stratification is reasonable on a periodic basis (every 12 to 24 months) for patients with HCM who have not undergone ICD implantation but would otherwise be eligible in the event that risk factors are identified (12 to 24 months). (Level of Evidence: C)" |
| Class IIb |
| "1. The usefulness of the following potential SCD risk modifiers is unclear but might be considered in selected patients with HCM for whom risk remains borderline after documentation of conventional risk factors:" |
| "a. CMR imaging with LGE[16][17]. (Level of Evidence: C)" |
| "b. Double and compound mutations (ie, >1). (Level of Evidence: C)" |
| "c. Marked LVOT obstruction[3][18][19][11]. (Level of Evidence: B)" |
| Class III |
| "1. Invasive electrophysiologic testing as routine SCD risk stratification for patients with HCM should not be performed. (Level of Evidence: C)" |
References
- ↑ Maron BJ, Cecchi F, McKenna WJ (1994). "Risk factors and stratification for sudden cardiac death in patients with hypertrophic cardiomyopathy". Br Heart J. 72 (6 Suppl): S13–8. doi:10.1136/hrt.72.6_Suppl.S13. PMC 1025670. PMID 7873317. Unknown parameter
|month=ignored (help) and the Task Force on Sudden Cardiac Death of the European Society of Cardiology link Note: Guideline withdraw - ↑ 2.0 2.1 Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW (2011). "2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines Developed in Collaboration With the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons". Journal of the American College of Cardiology. 58 (25): e212–60. doi:10.1016/j.jacc.2011.06.011. PMID 22075469. Retrieved 2011-12-19. Unknown parameter
|month=ignored (help) - ↑ 3.0 3.1 3.2 Elliott PM, Gimeno JR, Tomé MT; et al. (2006). "Left ventricular outflow tract obstruction and sudden death risk in patients with hypertrophic cardiomyopathy". Eur. Heart J. 27 (16): 1933–41. doi:10.1093/eurheartj/ehl041. PMID 16754630. Unknown parameter
|month=ignored (help) - ↑ Maron BJ, Savage DD, Wolfson JK, Epstein SE (1981). "Prognostic significance of 24 hour ambulatory electrocardiographic monitoring in patients with hypertrophic cardiomyopathy: a prospective study". Am. J. Cardiol. 48 (2): 252–7. PMID 7196685. Unknown parameter
|month=ignored (help) - ↑ Maron BJ (2010). "Risk stratification and role of implantable defibrillators for prevention of sudden death in patients with hypertrophic cardiomyopathy". Circ. J. 74 (11): 2271–82. PMID 20962423. Unknown parameter
|month=ignored (help) - ↑ Maron BJ (2010). "Contemporary insights and strategies for risk stratification and prevention of sudden death in hypertrophic cardiomyopathy". Circulation. 121 (3): 445–56. doi:10.1161/CIRCULATIONAHA.109.878579. PMID 20100987. Unknown parameter
|month=ignored (help) - ↑ Cecchi F, Maron BJ, Epstein SE (1989). "Long-term outcome of patients with hypertrophic cardiomyopathy successfully resuscitated after cardiac arrest". J. Am. Coll. Cardiol. 13 (6): 1283–8. PMID 2703610. Unknown parameter
|month=ignored (help) - ↑ Elliott PM, Sharma S, Varnava A, Poloniecki J, Rowland E, McKenna WJ (1999). "Survival after cardiac arrest or sustained ventricular tachycardia in patients with hypertrophic cardiomyopathy". J. Am. Coll. Cardiol. 33 (6): 1596–601. PMID 10334430. Unknown parameter
|month=ignored (help) - ↑ Elliott PM, Poloniecki J, Dickie S; et al. (2000). "Sudden death in hypertrophic cardiomyopathy: identification of high risk patients". J. Am. Coll. Cardiol. 36 (7): 2212–8. PMID 11127463. Unknown parameter
|month=ignored (help) - ↑ Fananapazir L, Chang AC, Epstein SE, McAreavey D (1992). "Prognostic determinants in hypertrophic cardiomyopathy. Prospective evaluation of a therapeutic strategy based on clinical, Holter, hemodynamic, and electrophysiological findings". Circulation. 86 (3): 730–40. PMID 1516184. Unknown parameter
|month=ignored (help) - ↑ 11.0 11.1 11.2 Maki S, Ikeda H, Muro A; et al. (1998). "Predictors of sudden cardiac death in hypertrophic cardiomyopathy". Am. J. Cardiol. 82 (6): 774–8. PMID 9761089. Unknown parameter
|month=ignored (help) - ↑ Maron BJ, Spirito P, Shen WK; et al. (2007). "Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy". JAMA. 298 (4): 405–12. doi:10.1001/jama.298.4.405. PMID 17652294. Unknown parameter
|month=ignored (help) - ↑ McKenna W, Deanfield J, Faruqui A, England D, Oakley C, Goodwin J (1981). "Prognosis in hypertrophic cardiomyopathy: role of age and clinical, electrocardiographic and hemodynamic features". Am. J. Cardiol. 47 (3): 532–8. PMID 7193406. Unknown parameter
|month=ignored (help) - ↑ Spirito P, Autore C, Rapezzi C; et al. (2009). "Syncope and risk of sudden death in hypertrophic cardiomyopathy". Circulation. 119 (13): 1703–10. doi:10.1161/CIRCULATIONAHA.108.798314. PMID 19307481. Unknown parameter
|month=ignored (help) - ↑ Sadoul N, Prasad K, Elliott PM, Bannerjee S, Frenneaux MP, McKenna WJ (1997). "Prospective prognostic assessment of blood pressure response during exercise in patients with hypertrophic cardiomyopathy". Circulation. 96 (9): 2987–91. PMID 9386166. Unknown parameter
|month=ignored (help) - ↑ Adabag AS, Maron BJ, Appelbaum E; et al. (2008). "Occurrence and frequency of arrhythmias in hypertrophic cardiomyopathy in relation to delayed enhancement on cardiovascular magnetic resonance". J. Am. Coll. Cardiol. 51 (14): 1369–74. doi:10.1016/j.jacc.2007.11.071. PMID 18387438. Unknown parameter
|month=ignored (help) - ↑ Moon JC, McKenna WJ, McCrohon JA, Elliott PM, Smith GC, Pennell DJ (2003). "Toward clinical risk assessment in hypertrophic cardiomyopathy with gadolinium cardiovascular magnetic resonance". J. Am. Coll. Cardiol. 41 (9): 1561–7. PMID 12742298. Unknown parameter
|month=ignored (help) - ↑ Efthimiadis GK, Parcharidou DG, Giannakoulas G; et al. (2009). "Left ventricular outflow tract obstruction as a risk factor for sudden cardiac death in hypertrophic cardiomyopathy". Am. J. Cardiol. 104 (5): 695–9. doi:10.1016/j.amjcard.2009.04.039. PMID 19699347. Unknown parameter
|month=ignored (help) - ↑ Maron MS, Olivotto I, Betocchi S; et al. (2003). "Effect of left ventricular outflow tract obstruction on clinical outcome in hypertrophic cardiomyopathy". N. Engl. J. Med. 348 (4): 295–303. doi:10.1056/NEJMoa021332. PMID 12540642. Unknown parameter
|month=ignored (help)