Dr Alberto Cecconi MIR - Cardiología

MIOCARDIOPATÍA HIPERTRÓFICA

“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)

HISTORIA

MORFOLOGIA

PATOGENESIS

PRONOSTICO

ECG

TRATAMIENTO

Functional obstruction of the left ventricle (acquired aortic subvalvar stenosis). Russell Claude Brock Guys Hosp Rep, 106 (1957), p. 221

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

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

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

Martin S Maron. J Cardiovasc Magn Reson. 2012; 14(1): 13.

CMR end-diastolic images demonstrating diverse patterns of LVH in HCM.

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.

Martin S Maron. J Cardiovasc Magn Reson. 2012; 14(1): 13.

CMR end-diastolic images demonstrating diversity of the phenotypic expression within HCM

The spectrum of mitral leaflet abnormalities

Maron M S et al. Circulation 2011;124:40-47

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.

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

Wheeler. J Cardiovasc Transl Res. 2009; 2:381-91.

Cardiac sarcomere showing the location of known disease-causing genes for HCM

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).

Maron B J Circulation 2010;121:445-456

ANATOMIA PATOLOGICA:

Physiopathology of myocardial ischaemia in hypertrophic cardiomyopathy.

Spoladore R et al. Eur Heart J 2012;33:1724-1733

SYMPTOMS:

Heart failure

Chest pain

Syncope

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

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

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

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

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.

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

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

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.

Role of ECG

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

JV Montgomery. Relation of Electrocardiographic Patterns to Phenotypic Expression and Clinical Outcome in Hypertrophic Cardiomyopathy. Am J Cardiol. 2005

JV Montgomery. Relation of Electrocardiographic Patterns to Phenotypic Expression and Clinical Outcome in Hypertrophic Cardiomyopathy. Am J Cardiol. 2005

JV Montgomery. Relation of Electrocardiographic Patterns to Phenotypic Expression and Clinical Outcome in Hypertrophic Cardiomyopathy. Am J Cardiol. 2005

McLeod CJ. Outcome of patients with hypertrophic cardiomyopathy and a normal electrocardiogram. Am J Cardiol. 2009

2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy

TRATAMIENTO::

2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy

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

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

Maron B J Circulation 2010;121:445-456

Sudden Death and Age

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

Sudden Death risk stratification.

Maron B J Circulation 2010;121:445-456

Maron B J Circulation 2010;121:445-456

Number of risk factors.

FAMILY SCREENING STRATEGIES:

Ecocardiography y ECG beginning at age of 12 years till 21 years

Since 21 years Ecocardiography every 5 years.

MUCHAS GRACIAS