MIOCARDIOPATÍA HIPERTRÓFICA · Functional obstruction of the left ventricle (acquired aortic...
Transcript of MIOCARDIOPATÍA HIPERTRÓFICA · Functional obstruction of the left ventricle (acquired aortic...
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Dr Alberto Cecconi MIR - Cardiología
MIOCARDIOPATÍA HIPERTRÓFICA
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“Hypertrophic Cardiomyopathy is characterized by a thickened but nondilated left ventricle in absence of other cardiac or systemic conditions capable of producing the magnitude of left ventricular hypertrophy evident.” Barry J. Maron Braunwald's Heart Disease (9th Ed)
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HISTORIA
MORFOLOGIA
PATOGENESIS
PRONOSTICO
ECG
TRATAMIENTO
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Functional obstruction of the left ventricle (acquired aortic subvalvar stenosis). Russell Claude Brock Guys Hosp Rep, 106 (1957), p. 221
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Timeline summarizes major events that comprise the history of left ventricular outflow tract obstruction in hypertrophic cardiomyopathy.
The 50-Year History, Controversy, and Clinical Implications of Left Ventricular Outflow Tract Obstruction in Hypertrophic Cardiomyopathy : From Idiopathic Hypertrophic Subaortic Stenosis to Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology Volume 54, Issue 3 2009 191 - 200
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PREVALENCIA → 1:500, 0.2% Maron BJ, Gardin JM, Flack JM, et al. Prevalence of hypertrophic cardiomyopathy in a general population of young adults: echocardiographic analysis of 4111 subjects in the CARDIA Study Coronary Artery Risk Development in (Young) Adults. Circulation. 1995;92: 785–9.
La causa más frecuente de muerte subita en el joven
La enfermedad cardiovascular genetica más frecuente
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MORFOLOGIA:
Echocardiography:
- typically asymetric, sharp transition - 50% diffuse, 50% confined to segmental areas - dissimilar phenotypes in relatives - diminished E' velocity may precede LV hypertrophy
No specific pattern related to outcome Phenotype is incomplete until adolescence
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Martin S Maron. J Cardiovasc Magn Reson. 2012; 14(1): 13.
CMR end-diastolic images demonstrating diverse patterns of LVH in HCM.
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CMR can identify segmental LV hypertrophy that may not be reliably visualized by two-dimensional echocardiography.
Martin S Maron. J Cardiovasc Magn Reson. 2012; 14(1): 13.
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Martin S Maron. J Cardiovasc Magn Reson. 2012; 14(1): 13.
CMR end-diastolic images demonstrating diversity of the phenotypic expression within HCM
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The spectrum of mitral leaflet abnormalities
Maron M S et al. Circulation 2011;124:40-47
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Maron M S et al. Circulation 2011;124:40-47
Contrast-enhanced CMR images in 6 different HCM patients demonstrating the diverse pattern and extent of late gadolinium enhancement in this disease.
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Adabag AS. J Am Coll Cardiol. 2008;51:1369–74
Occurrence and frequency of arrhythmias in hypertrophic cardiomyopathy in relation to delayed enhancement on cardiovascular magnetic resonance
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Wheeler. J Cardiovasc Transl Res. 2009; 2:381-91.
Cardiac sarcomere showing the location of known disease-causing genes for HCM
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GENETICA EN EL DIAGNOSTICO DIFERENCIAL:
G2 regulatory subunit of adenosine monophosphateactivated protein kinase (PRKAG2)
Lysosome associated membrane protein (LAMP2)
Fabry disease caused by mutations in the gene a-galactosidase (GLA).
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Maron B J Circulation 2010;121:445-456
ANATOMIA PATOLOGICA:
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Physiopathology of myocardial ischaemia in hypertrophic cardiomyopathy.
Spoladore R et al. Eur Heart J 2012;33:1724-1733
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SYMPTOMS:
Heart failure
Chest pain
Syncope
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PHYSICAL EXAMINATION:
Medium-pitch systolic ejection murmur at the lower left sternal border and apex
Murmur increases with Valsava maneuver or standing
Bisferiens contour
Double apical impulses
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Probability of Hypertrophic Cardiomyopathy (HCM)–Related Death among 273 Patients with a Left Ventricular Outflow Gradient of at Least 30 mm Hg under Basal Conditions and 828 Patients
without Obstruction at Entry.
Maron MS et al. N Engl J Med 2003;348:295-303.
Relative risk, 2.0; CI 1.3 to 3.0; P=0.001
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Maron MS et al. N Engl J Med 2003;348:295-303.
Probability of Progression to Severe Heart Failure (NYHA Class III or IV) or Death from Heart Failure or Stroke among 224 Patients with Left Ventricular Outflow Tract Obstruction and 770 Patients
without Obstruction.
relative risk, 4.4; CI 3.3 to 5.9; P<0.001
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Maron MS et al. N Engl J Med 2003;348:295-303.
Probability of Sudden Death among 224 Patients with a Left Ventricular Ouflow Tract Gradient of at Least 30 mm Hg and 770 Patients without Obstruction.
RR 2.1; CI 1.1 to 3.7; P=0.02
1.5 percent vs 0.9 percent per year
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Maron MS et al. N Engl J Med 2003;348:295-303.
Relation of the Magnitude of Left Ventricular Outflow Tract Gradient or the Absence of a Gradient to the Probability of Progression to Severe Heart Failure (NYHA Class III or IV) or Death from Heart
Failure or Stroke.
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Apical 5-chamber long-axis view at rest showing mitral valve at end diastole and in the same patient, immediately after exercise
Maron M S et al. Circulation 2006;114:2232-2239
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Changes in LV outflow tract gradient from basal (rest) conditions to immediately after exercise in 201 HCM patients.
Maron M S et al. Circulation 2006;114:2232-2239
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Prevalence of LV outflow tract obstruction in the overall study group of 320 HCM patients.
Maron M S et al. Circulation 2006;114:2232-2239
*Includes 30 patients with modest exercise gradients of 30 to 49 mm Hg and 76 patients with gradients ≥50 mm Hg.
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Role of ECG
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JV Montgomery. Relation of Electrocardiographic Patterns to Phenotypic Expression and Clinical Outcome in Hypertrophic Cardiomyopathy. The American Journal of Cardiology. 2005
ECG voltages and wall thickness
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JV Montgomery. Relation of Electrocardiographic Patterns to Phenotypic Expression and Clinical Outcome in Hypertrophic Cardiomyopathy. Am J Cardiol. 2005
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JV Montgomery. Relation of Electrocardiographic Patterns to Phenotypic Expression and Clinical Outcome in Hypertrophic Cardiomyopathy. Am J Cardiol. 2005
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JV Montgomery. Relation of Electrocardiographic Patterns to Phenotypic Expression and Clinical Outcome in Hypertrophic Cardiomyopathy. Am J Cardiol. 2005
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McLeod CJ. Outcome of patients with hypertrophic cardiomyopathy and a normal electrocardiogram. Am J Cardiol. 2009
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2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
TRATAMIENTO::
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2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
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Survival free from all-cause mortality in three hypertrophic cardiomyopathy patient subgroups
Ommen SR. Long-Term Effects of Surgical Septal Myectomy on Survival in Patients With Obstructive Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology. 2005
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Survival free from all-cause mortality after surgical myectomy for obstructive hypertrophic cardiomyopathy
Ommen SR. Long-Term Effects of Surgical Septal Myectomy on Survival in Patients With Obstructive Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology. 2005
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Maron B J Circulation 2010;121:445-456
Sudden Death and Age
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Clinical criteria used to distinguish nonobstructive HCM from athlete’s heart when maximal LV wall thickness is within shaded gray area of overlap, consistent
with both diagnoses.
Maron B J , Pelliccia A Circulation 2006;114:1633-1644
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Sudden Death risk stratification.
Maron B J Circulation 2010;121:445-456
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Maron B J Circulation 2010;121:445-456
Number of risk factors.
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FAMILY SCREENING STRATEGIES:
Ecocardiography y ECG beginning at age of 12 years till 21 years
Since 21 years Ecocardiography every 5 years.
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MUCHAS GRACIAS