the cardiomyopathies

April 2007April 2007 Esayas K.G Jimma UniversityEsayas K.G Jimma University 11

The Cardiomyopathies


Dilated cardiomyopathyDilated cardiomyopathy

It is characterized by unexplained dilatation and It is characterized by unexplained dilatation and impaired contractile performance of one or both impaired contractile performance of one or both ventricles.ventricles.

DCM causes about third of cases of CHF.DCM causes about third of cases of CHF.

Left &/or right ventricular systolic pumping function Left &/or right ventricular systolic pumping function is impaired, leading to progressive cardiac is impaired, leading to progressive cardiac enlargement and hypertrophy by remodeling.enlargement and hypertrophy by remodeling.

Symptoms of CHF typically appear only after Symptoms of CHF typically appear only after remodeling has been ongoing for months or even remodeling has been ongoing for months or even years. There is however, no correlation between the years. There is however, no correlation between the degree of contractile dysfunction & severity of the degree of contractile dysfunction & severity of the symptoms.symptoms.


Etiology:-Etiology:- No cause is apparently known.No cause is apparently known. Thought to be the end result of myocardial damage produced by a variety of Thought to be the end result of myocardial damage produced by a variety of

toxic, metabolic, or infectious agents.toxic, metabolic, or infectious agents. It may be the late sequellae of acute viral myocarditis, possibly mediated by an It may be the late sequellae of acute viral myocarditis, possibly mediated by an

autoimmune mechanism.autoimmune mechanism. Reversible forms of DCM occur in:Reversible forms of DCM occur in:

Alcohol abuseAlcohol abuse PregnancyPregnancy Thyroid diseaseThyroid disease Cocaine abuseCocaine abuse Chronic uncontrolled tachycardialChronic uncontrolled tachycardial

20-40% of patients have familial forms of disease with mutations of genes 20-40% of patients have familial forms of disease with mutations of genes encoding cytoskeletal, contractile, and nuclear membrane proteins. encoding cytoskeletal, contractile, and nuclear membrane proteins.

It is typically heterogeneous but most commonly autosomal dominant It is typically heterogeneous but most commonly autosomal dominant transmission;autosomal recesive, mitochondrial, and x-linked inheritance may transmission;autosomal recesive, mitochondrial, and x-linked inheritance may also be seen.also be seen.

Right ventricular dyplasiaRight ventricular dyplasia is a unique familial cardiomyopathy marked is a unique familial cardiomyopathy marked by progressive replacement of the right ventricular wall with adipose tissue. It is by progressive replacement of the right ventricular wall with adipose tissue. It is often associated with ventricular arrhythmias & sudden death.often associated with ventricular arrhythmias & sudden death.


EpidemiologyEpidemiology:-:-occurs worldwideoccurs worldwide Is commonly a disease of middle age menIs commonly a disease of middle age men Prevalence is increasing currentlyPrevalence is increasing currently

Clinical featuresClinical features:-:- SxsSxs. . of biventricular failure develop gradually in most of biventricular failure develop gradually in most

patients.patients. Some pts have LV dilatation for months or even years Some pts have LV dilatation for months or even years

before becoming symptomatic.before becoming symptomatic. ۞۞

Syncope due to arrhythmiaSyncope due to arrhythmia Thromboembolism(ventricular thrombus)Thromboembolism(ventricular thrombus) Non-specific chest painNon-specific chest pain

NoteNote:-presence of typical angina pectoris is unusual & :-presence of typical angina pectoris is unusual & suggests the presence of concomitant ischemic heart suggests the presence of concomitant ischemic heart disease.disease.


Physical examination:-Physical examination:- Shifted PMI→ cardiac enlargementShifted PMI→ cardiac enlargement Signs of CHFSigns of CHF Third and 4Third and 4thth heart sounds are commonly found heart sounds are commonly found MR/TR may occurMR/TR may occur In advanced diseaseIn advanced disease

Narrow pulse pressureNarrow pulse pressureRaised JVPRaised JVP


InvestigationsInvestigations CXR:- cardiomegaly, significantly LVCXR:- cardiomegaly, significantly LV

↑↑ed vascular markingsed vascular markings Signs of interstial or alveolar edemaSigns of interstial or alveolar edema

ECG:-sinus tachycardiaECG:-sinus tachycardia AFAF Ventricular arrhythmiaVentricular arrhythmia LA abnormalitiesLA abnormalities Diffuse non-specific ST-T wave abnormalitiesDiffuse non-specific ST-T wave abnormalities Sometimes interventricular conduction defects & low voltageSometimes interventricular conduction defects & low voltage..

Echo.:-LV dilatation with normal, minimally thickened, or thinned Echo.:-LV dilatation with normal, minimally thickened, or thinned wall.wall.

Systolic dysfunction (↓ed EF)Systolic dysfunction (↓ed EF) Cardiac catheterization & coronary angiography are often Cardiac catheterization & coronary angiography are often

performed to exclude IHD.performed to exclude IHD. Angiography shows dilated, diffusely hypokinetic LV with some Angiography shows dilated, diffusely hypokinetic LV with some

degree of MR.degree of MR.


ManagementManagement Standard therapy of heart failure with:Standard therapy of heart failure with:

Salt restrictionSalt restriction ACEi/ARBACEi/ARB Diuretics produce symptomatic improvement Diuretics produce symptomatic improvement digitalisdigitalis β-blockersβ-blockers spironolactone for patients with recent or current advanced HFspironolactone for patients with recent or current advanced HF

Avoid: - alcoholAvoid: - alcoholCalcium channel blockersCalcium channel blockersNSADsNSADs

Systemic embolization is a concern→consider chronic anticoagulationSystemic embolization is a concern→consider chronic anticoagulation Antiarrhythmic are best avoided for fear of proarrhythmia, unless Antiarrhythmic are best avoided for fear of proarrhythmia, unless

they are needed to treat symptomatic or serious arrhythmias.they are needed to treat symptomatic or serious arrhythmias. ICD- is useful for patients with symptomatic ventricular arrhythmiasICD- is useful for patients with symptomatic ventricular arrhythmias cardiac transplantation!-cardiac transplantation!-In patients with advanced disease who In patients with advanced disease who

are refractory to medical therapy.are refractory to medical therapy.


Prognosis Prognosis Most patients have a downhill course Most patients have a downhill course Majority particularly those > 55 yrs die within 3 Majority particularly those > 55 yrs die within 3

yrs of Sx.yrs of Sx. Death is usually due to either CHF or ventricular Death is usually due to either CHF or ventricular

tachy−or bradyarrhythmiacardia.tachy−or bradyarrhythmiacardia. Sudden death is a constant threat.Sudden death is a constant threat. Spontaneous improvement or stabilization occurs Spontaneous improvement or stabilization occurs

in about a quarter of patients.in about a quarter of patients.


Restrictive cardiomyopathyRestrictive cardiomyopathy It is the rarest of the three types of CMP. It is more common in It is the rarest of the three types of CMP. It is more common in

countries such as equatorial Africa where it is acquired 2countries such as equatorial Africa where it is acquired 2o o to to endomyocardial disease.endomyocardial disease.

RCMs arise from loss of ventricular distensibility as a result of RCMs arise from loss of ventricular distensibility as a result of either myocardial or endomyocardial disease.either myocardial or endomyocardial disease.

The pathologic hallmark is myocardial fibrosis, hypertrophy, or The pathologic hallmark is myocardial fibrosis, hypertrophy, or inflammation due to variety of causes.inflammation due to variety of causes.

The most common cause is endomyocardial fibrosis (EMF), The most common cause is endomyocardial fibrosis (EMF), which often occurs in association with eosinophilia which often occurs in association with eosinophilia ( hypereosinophilic syndrome).( hypereosinophilic syndrome).

Other causes are:Other causes are:AmyloidosisAmyloidosisHemochromatosisHemochromatosisGlycogen depositionGlycogen depositionSarcoidosisSarcoidosisFabry’s diseaseFabry’s diseaseSclerodermaSclerodermaMediastinal radiationMediastinal radiationNeoplastic infiltration Neoplastic infiltration


……continuedcontinued The hemodynamic hallmark of RCM is abnormal The hemodynamic hallmark of RCM is abnormal

diastolic function; the ventricular walls are diastolic function; the ventricular walls are excessively rigid and impede ventricular filling. excessively rigid and impede ventricular filling.

There is partial obliteration of the ventricular cavity There is partial obliteration of the ventricular cavity by fibrous tissue and thrombus: -by fibrous tissue and thrombus: -

Abnormally ↑ed resistance to ventricular fillingAbnormally ↑ed resistance to ventricular filling Thromboembolic complications in 1/3rd of patients Thromboembolic complications in 1/3rd of patients

The inability of ventricles to fill limits cardiac The inability of ventricles to fill limits cardiac output and raises filling pressure.output and raises filling pressure.


Clinical featuresClinical features Exercise intolerance & dyspnea are usually the most Exercise intolerance & dyspnea are usually the most

prominent symptoms.prominent symptoms. Dependent edema, ascites, & hepatomegalyDependent edema, ascites, & hepatomegaly Raised JVP with Kussmaul’s signRaised JVP with Kussmaul’s sign Heart sounds may be distant & 3Heart sounds may be distant & 3rdrd & 4 & 4thth heart sounds heart sounds

are commonare common RCM resembles constrictive Pericarditis in most RCM resembles constrictive Pericarditis in most

cases, in RCM apical impulse is usually easily cases, in RCM apical impulse is usually easily palpable, & MR is more common.palpable, & MR is more common.


Investigation: -Investigation: - ECGECG: - low voltage, non-specific ST-T wave changes & : - low voltage, non-specific ST-T wave changes &

various arrhythmias.various arrhythmias. ECHOECHO: -: -

symmetrically thickened left ventricular walls & normal or symmetrically thickened left ventricular walls & normal or slightly reduced ventricular volume & systolic functionslightly reduced ventricular volume & systolic function

Doppler recordings demonstrate accentuated early diastolic filling.Doppler recordings demonstrate accentuated early diastolic filling.

Cardiac cathetherizatiion: -Cardiac cathetherizatiion: - ↓ ↓ed cardiac outputed cardiac output Elevation of the right and left ventricular end-diastolic pressure Elevation of the right and left ventricular end-diastolic pressure

& plateau configuration of the diastolic portion of the ventricular & plateau configuration of the diastolic portion of the ventricular pressure pulsepressure pulse

Endomyocardial Bx differentiate RCM fromEndomyocardial Bx differentiate RCM from

CT/MRI constrictive pericarditisCT/MRI constrictive pericarditis


Treatment: -Treatment: - The treatment is as for any cardiac failure-but The treatment is as for any cardiac failure-but

usually disappointing.usually disappointing. Chronic anticoagulation is often recommendedChronic anticoagulation is often recommended Cardiac transplantationCardiac transplantation


Hypertrophic CardiomyopathyHypertrophic Cardiomyopathy Hypertrophic cardiomyopathy (HCM) is a complex but a common Hypertrophic cardiomyopathy (HCM) is a complex but a common

form of genetic heart disease typically inherited in an autosomal form of genetic heart disease typically inherited in an autosomal dominant fashion with variable penetrance and expressivity.dominant fashion with variable penetrance and expressivity.

HCM is the leading cause of sudden cardiac death in people under 30 HCM is the leading cause of sudden cardiac death in people under 30 years and responsible for exercise disability at almost any age.years and responsible for exercise disability at almost any age.

It is characterized by a hypertrophied and non dilated left and/or right It is characterized by a hypertrophied and non dilated left and/or right ventricles in the absence of obvious causes like AS or HTN. ventricles in the absence of obvious causes like AS or HTN.

Prevalence: Prevalence: is 0.2% of the general populationis 0.2% of the general population: : Sex: Sex: HCM is identified slightly more commonly in males than in females. HCM is identified slightly more commonly in males than in females.

However, the genetic inheritance pattern is autosomal dominant, without However, the genetic inheritance pattern is autosomal dominant, without gender predilection. gender predilection.

HCM usually presents at an earlier age in females than in males. Females HCM usually presents at an earlier age in females than in males. Females with HCM tend to be more symptomatic and are more likely to be disabled with HCM tend to be more symptomatic and are more likely to be disabled by their symptoms. by their symptoms.

Age: Age: HCM may occur at any age from newborn to elderly. HCM may occur at any age from newborn to elderly. HCM is a progressive condition that worsens over time if left untreated. HCM is a progressive condition that worsens over time if left untreated. Its most common presentation is in the third decade of life. Its most common presentation is in the third decade of life.


Causes:Causes: The actual cause of HCM is defects in the genes encoding for several of the The actual cause of HCM is defects in the genes encoding for several of the sarcomeric proteins.sarcomeric proteins.

Genetic causesGenetic causes: -: - About 50% of all patients with HCM have positive family history About 50% of all patients with HCM have positive family history

compatible with autosomal dominant transmission..compatible with autosomal dominant transmission.. Familial HCM is a genetically heterogeneous disease because it is Familial HCM is a genetically heterogeneous disease because it is

caused by defects at multiple genetic loci. caused by defects at multiple genetic loci. At least 12 different genes on at least 6 chromosomes are associated At least 12 different genes on at least 6 chromosomes are associated

with HCM, and more than 200 different mutations have been with HCM, and more than 200 different mutations have been discovered. discovered. 40% of these are associated with mutations of the cardiac β-40% of these are associated with mutations of the cardiac β-

myocin heavy chain gene on chromosome-1myocin heavy chain gene on chromosome-1 15%-mutation of cardiac troponin T gene on chromosome-115%-mutation of cardiac troponin T gene on chromosome-1 20%-mutations of myosin binding protein c (chromosome 11)20%-mutations of myosin binding protein c (chromosome 11) 5%-mutation of α-tropomyosin gene5%-mutation of α-tropomyosin gene


Echocardiographic studies have confirmed that Echocardiographic studies have confirmed that about 1/3about 1/3rdrd of the 1 of the 1st st degree relatives of patients degree relatives of patients with HCM have evidence of the disease.with HCM have evidence of the disease.

Other suggested causes of HCM areOther suggested causes of HCM are::Abnormal calcium kinetics:Abnormal calcium kinetics:↑↑ed intracellular calcium concentration as a result of ↑ed ed intracellular calcium concentration as a result of ↑ed

no. of calcium channels→ myocardial hypertrophy & no. of calcium channels→ myocardial hypertrophy & disarray.disarray.

Abnormal sympathetic stimulationAbnormal sympathetic stimulation↑↑ed responsiveness of heart to catecholaminesed responsiveness of heart to catecholaminesExcessive production of cathecholaminesExcessive production of cathecholamines↓↓ed neuronal uptake of catecholamines ed neuronal uptake of catecholamines

Cardiac structural abnormalitiesCardiac structural abnormalities


Pathology:Pathology: The right, the left, or both ventricles may be The right, the left, or both ventricles may be

involved.involved. RVH is :RVH is :

usually symmetricusually symmetricSeen in over 30% of patientsSeen in over 30% of patientsIsolated RVH is rare Isolated RVH is rare

• Hypertrophy on the left is usually asymmetric, Hypertrophy on the left is usually asymmetric, involving the interventricular septum & the free wall involving the interventricular septum & the free wall than the posterior wall.than the posterior wall.


LVHLVHOver 60% of patients will have structural abnormalities Over 60% of patients will have structural abnormalities of MV(↑leaflet area, elongation of leaflets, or anomalous of MV(↑leaflet area, elongation of leaflets, or anomalous papillary muscle insertion into the anterior MV).papillary muscle insertion into the anterior MV).


The two important features of LVHThe two important features of LVH: -: -

1.1. Heterogeneous hypertrophy, often with Heterogeneous hypertrophy, often with preferential hypertrophy of the interventricular preferential hypertrophy of the interventricular septum resulting in asymmetric septal septum resulting in asymmetric septal hypertrophy (ASH).hypertrophy (ASH).

2.2. A dynamic left ventricular outflow tract pressure A dynamic left ventricular outflow tract pressure gradient, related to a narrowing of the subaortic gradient, related to a narrowing of the subaortic areas as a consequence of SAM of the MV.areas as a consequence of SAM of the MV.

The pathophysiologic abnormality is diastolic The pathophysiologic abnormality is diastolic dysfunction characterized by increased stiffness dysfunction characterized by increased stiffness of the hypertrophied muscle →↑diastolic filling of the hypertrophied muscle →↑diastolic filling pressure & is present despite a hyperdynamic LV.pressure & is present despite a hyperdynamic LV.


HemodynamicsHemodynamics: -: - Many individuals with HCM demonstrate left ventricular Many individuals with HCM demonstrate left ventricular

dynamic out flow obstruction.dynamic out flow obstruction. The degree of obstruction is variable and is dependent on the The degree of obstruction is variable and is dependent on the

amount of blood in the ventricles immediately before ventricular amount of blood in the ventricles immediately before ventricular systole.systole.

Dynamic outflow obstruction is always due to SAM of MV Dynamic outflow obstruction is always due to SAM of MV against the hypertrophied septum.against the hypertrophied septum.

The three basic mechanisms of dynamic changes resulting The three basic mechanisms of dynamic changes resulting in pressure gradient are:-in pressure gradient are:-

1.1. Increased left ventricular contractilityIncreased left ventricular contractility2.2. Decreased ventricular volume (Preload)Decreased ventricular volume (Preload)3.3. Decreased aortic impedance & pressure (After load)Decreased aortic impedance & pressure (After load)

♣♣ Conditions that increase myocardial contractility (exercise, Conditions that increase myocardial contractility (exercise, sympathomimetics, & digitalis glycosides) and those that sympathomimetics, & digitalis glycosides) and those that decrease ventricular volume (valsalva maneuver, decrease ventricular volume (valsalva maneuver, nitroglycerine, amyl nitrates & tachycardia) aggravate it.nitroglycerine, amyl nitrates & tachycardia) aggravate it.


C/FC/F Clinical feature is highly variable:Clinical feature is highly variable: Many are asymptomatic or mildly symptomatic & Many are asymptomatic or mildly symptomatic &

may be relatives of patients with known disease.may be relatives of patients with known disease. The first manifestation of the disease may be sudden The first manifestation of the disease may be sudden

cardiac death, in childhood or adolescents, often cardiac death, in childhood or adolescents, often during or after physical exertion. during or after physical exertion.

The arrhythmia that causes sudden death is The arrhythmia that causes sudden death is ventricular fibrillation in more than 80% of ventricular fibrillation in more than 80% of individuals with HCM. individuals with HCM.


In symptomatic patients, common symptoms areIn symptomatic patients, common symptoms are:: DyspneaDyspnea

It is the most common presenting symptom of HCM occuring in It is the most common presenting symptom of HCM occuring in as many as 90% of symptomatic patients. as many as 90% of symptomatic patients.

SyncopeSyncope Syncope is a common symptom of HCM, resulting from Syncope is a common symptom of HCM, resulting from

inadequate cardiac output on exertion or from cardiac inadequate cardiac output on exertion or from cardiac arrhythmia. arrhythmia.

Presyncope( near syncope= "graying out" spells)Presyncope( near syncope= "graying out" spells) AnginaAngina PalpitationsPalpitations Orthopnea and paroxysmal nocturnal dyspneaOrthopnea and paroxysmal nocturnal dyspnea Symptoms of Congestive heart failureSymptoms of Congestive heart failure DizzinessDizziness NoteNote:-:-symptoms are not closely related to the symptoms are not closely related to the

presence or severity of an outflow pressure presence or severity of an outflow pressure gradient.gradient.


Physical Examination: -Physical Examination: - Most patients with gradients demonstrate a double or triple Most patients with gradients demonstrate a double or triple

apical precordial impulse, a rapidly rising carotid arterial apical precordial impulse, a rapidly rising carotid arterial pulse, & 4pulse, & 4thth heart sound. heart sound.

The hallmark of obstructive HCM is a systolic crescendo-The hallmark of obstructive HCM is a systolic crescendo-decrescendo murmur is heard best between the apex and left decrescendo murmur is heard best between the apex and left sternal border; it radiates to the suprasternal notch but not to sternal border; it radiates to the suprasternal notch but not to the carotid arteries or neck. the carotid arteries or neck. The murmur and the gradient across the LV outflow tract diminish The murmur and the gradient across the LV outflow tract diminish

with any increase in preload or increase in afterload and increase with any increase in preload or increase in afterload and increase with any decrease in preload or afterload with any decrease in preload or afterload

Holosystolic murmur of mitral regurgitation is heard in Holosystolic murmur of mitral regurgitation is heard in patients with SAM of the MV and significant LV outflow patients with SAM of the MV and significant LV outflow gradients.gradients.


InvestigationsInvestigations CXRCXR- usually normal ( occasionally increased cardiac - usually normal ( occasionally increased cardiac

silhouette)silhouette) ElectrocardiographyElectrocardiography

ECG is normal in 5% of symptomatic & 25% of asymptomatic ECG is normal in 5% of symptomatic & 25% of asymptomatic patients.patients.

At the time of diagnosis, 10% are in AFAt the time of diagnosis, 10% are in AF Majority of them have an interventricular conduction delay.Majority of them have an interventricular conduction delay.

ST segment depression and T-wave changes are the most common ST segment depression and T-wave changes are the most common abnormalities associated with voltage changes of LVH.abnormalities associated with voltage changes of LVH.

Wide speared, deep , broad Q waves in the inferior leads that suggest an Wide speared, deep , broad Q waves in the inferior leads that suggest an old MIold MI

Left axis deviationLeft axis deviation Arrhythmia-SVT, AF, VTArrhythmia-SVT, AF, VT conduction abnormalities (i.e., PR prolongation, bundle branch block, conduction abnormalities (i.e., PR prolongation, bundle branch block,

Wolff-Parkinson-White syndrome ), Wolff-Parkinson-White syndrome ), P-wave abnormalities of left &/or right atrial overload (atrial P-wave abnormalities of left &/or right atrial overload (atrial

enlargement). .enlargement). .


Echocardiography-Echocardiography- mainstay of diagnosis for HCM. mainstay of diagnosis for HCM. LVH > 13 mm (usually >15mm),septum often 1-3 or LVH > 13 mm (usually >15mm),septum often 1-3 or

more times thicker than the high posterior free wall and more times thicker than the high posterior free wall and at least 4-6 mm thicker than normal for each age group.at least 4-6 mm thicker than normal for each age group.

Echocardiography also typically reveals diastolic Echocardiography also typically reveals diastolic dysfunction with reduced LV compliance.dysfunction with reduced LV compliance.

The hallmarks of the obstructive type of HCM consist of SAM The hallmarks of the obstructive type of HCM consist of SAM of the anterior MV and ASH, with a septal wall thickness-to-of the anterior MV and ASH, with a septal wall thickness-to-posterior wall thickness ratio greater than 1.4:1. posterior wall thickness ratio greater than 1.4:1.

Other echocardiographic findings in individuals with Other echocardiographic findings in individuals with HCM may include the following: HCM may include the following:

Small LV cavity. Small LV cavity. Reduced septal motion and thickening during systole, Reduced septal motion and thickening during systole, Normal or increased motion of the posterior wall Normal or increased motion of the posterior wall Left atrial enlargement Left atrial enlargement mitral regurgitationmitral regurgitation


Exercise testing:Exercise testing: About third of pts. Will have an abnormal BP responseAbout third of pts. Will have an abnormal BP response ST segment changes associated with symptoms of ST segment changes associated with symptoms of

angina, are found in 25% of pts.angina, are found in 25% of pts.

Radionuclide imagingRadionuclide imaging with thallium or technetium with thallium or technetium may demonstrate reversible defects.may demonstrate reversible defects.

Cardiac catheterizationCardiac catheterization

Histologic Findings: Histologic Findings: bizarre and disorganized bizarre and disorganized arrangements of cardiac muscle cellsarrangements of cardiac muscle cells ( ( cell-to-cell cell-to-cell

disarray) and myocardial fibrosis of the septum.disarray) and myocardial fibrosis of the septum.

April 2007 Esayas K.G Jimma University 27

Differentiating hypertrophic cardiomyopathy and valvular aortic stenosis

Aortic stenosis Hypertrophic cardiomyopathy

Echocardiography

Aortic valve calcification

Common No

Dilated ascending aorta

Common Rare

Ventricular hypertrophy

Concentric Asymmetric, often involving the septum

Physical examination

Murmur of AI Common No

Pulse pressure after PVC

Increased Decreased

Valsalva maneuverDecreased intensity of

murmurIncreased intensity of murmur

Carotid pulsation Normal Brisk, jerky, or bisferiens pulse (a collapse of

the pulse followed by a secondary rise)


HCM Athlete’s Heart ( PhysiologicLVH)

Distribution of hypertrophy

Mostly asymmetrical

Substantially symmetrical

Max. LV wall thickness (mm)

>16 <16

LV cavity dimension(mm)

Normal or ↓ed(< 45)

Normal or ↑ed (≥55)

LV filling and relaxation

Usually abnormal

Normal

Regression of LVH with detraining

Absent or marginal

Present

Marked ECG abnormalities

common uncommon

Familial evidence of HCM

usually present Absent

Peak O2 consumption

( Vo2 max.)

Normal or ↓ed >5o ml/kg/min

Criteria to differentiate b/n HCM and Athlete’s heart


ManagementManagement Treatment of HCM is directed towards decreasing Treatment of HCM is directed towards decreasing

the LV outflow tract gradient and symptoms of the LV outflow tract gradient and symptoms of dyspnea, chest pain & syncope.dyspnea, chest pain & syncope.

Treatment options for pts with HCM depend upon Treatment options for pts with HCM depend upon the heart condition & severity of symptoms, and are the heart condition & severity of symptoms, and are intended to decrease the stress on the heart and intended to decrease the stress on the heart and relieve symptoms. relieve symptoms.


1.1. Medical TherapyMedical Therapy: : It is successful in majority of pts.It is successful in majority of pts.Medications help relax the heart & reduce the degree of obstruction.Medications help relax the heart & reduce the degree of obstruction.

a.a. β-blockers (metoprolol, atenolol, bisoprolol, propranolol)β-blockers (metoprolol, atenolol, bisoprolol, propranolol) ↓↓outflow obstruction & ↑ventricular complianceoutflow obstruction & ↑ventricular compliance

b.b. Calcium channel blockers (verapamil, deltiazem) Calcium channel blockers (verapamil, deltiazem) Are alternative to β-blockersAre alternative to β-blockers Improve diastolic filling by improving diastolic relaxation & decreasing Improve diastolic filling by improving diastolic relaxation & decreasing

outflow gradient due to depression of cardiac contractility.outflow gradient due to depression of cardiac contractility.Note:-Note:-Nifedipine should be avoided!Nifedipine should be avoided!

β-blockers + calcium channel blockers should used cautiously.β-blockers + calcium channel blockers should used cautiously.

c.c. Amiodarone (class III antiarrhythmic agent)Amiodarone (class III antiarrhythmic agent) Its use is generally reserved for potentially life-threatening ventricular Its use is generally reserved for potentially life-threatening ventricular

arrhythmiasarrhythmias Reduces risk of SCDReduces risk of SCD

d.d. Disopyramide (class-I antiarrrhytmic agent) Disopyramide (class-I antiarrrhytmic agent) Pharmacologic therapy is primarily intended to alleviate the symptoms associated with Pharmacologic therapy is primarily intended to alleviate the symptoms associated with

HCM, HCM, no drug has been shown to alter the natural history of the disease in either symptomatic no drug has been shown to alter the natural history of the disease in either symptomatic

or asymptomatic patients. or asymptomatic patients.


2. Transvenous dual-chamber permanent pacing↓ LV outflow obstruction by altering the pattern of ventricular depolarization and contraction.Doesn’t reduce risk of ventricular arrhythmias & sudden deathUsed as adjunct with medical therapy

3. Septal Alcohol ablation


4.4. Implantable cardioverter defibrillator (ICDImplantable cardioverter defibrillator (ICD) ) Indicated in patients:Indicated in patients:

Who survive cardiac arrestWho survive cardiac arrest With high risk ventricular arrhythmiasWith high risk ventricular arrhythmias

↓↓SCDSCD Superior to antiarrhytmiac drug therapySuperior to antiarrhytmiac drug therapy


Surgical Mgt.( MyectomySurgical Mgt.( Myectomy): ): IndicationsIndications::

Severe symptoms refractory to medical therapySevere symptoms refractory to medical therapy Outflow gradient of >50mmHg either provocation or at restOutflow gradient of >50mmHg either provocation or at rest

Cardiac transplantation!Cardiac transplantation!


GENERAL MANGEMENT OF PATIENTS WITH HCMGENERAL MANGEMENT OF PATIENTS WITH HCM Advise individuals with HCM to avoid strenuous activity, anaerobic Advise individuals with HCM to avoid strenuous activity, anaerobic

exercise such as weight lifting. Don’t permit competitive level sports exercise such as weight lifting. Don’t permit competitive level sports if any of the following are present:if any of the following are present: Significant outflow gradientSignificant outflow gradient Significant ventricular or supraventricular arrhythmiaSignificant ventricular or supraventricular arrhythmia Marked LVHMarked LVH Hx. of sudden death in relatives with HCMHx. of sudden death in relatives with HCM Confirmed malignant genotypeConfirmed malignant genotype

Avoid administration of inotropic agentsAvoid administration of inotropic agents Avoid nitrates & sympathomimetic amines except in pts. with HCM Avoid nitrates & sympathomimetic amines except in pts. with HCM

& concomitant coronary artery disease.& concomitant coronary artery disease. Cardiac glycosides are contraindicated except in pts. with Cardiac glycosides are contraindicated except in pts. with

uncontrolled AF.uncontrolled AF. ACEi and ARB are better avoided.ACEi and ARB are better avoided. Avoid diuretics because of their effect on Left ventricular volume.Avoid diuretics because of their effect on Left ventricular volume. Alcohol ingestion should be avoided; even social alcohol ingestion Alcohol ingestion should be avoided; even social alcohol ingestion

may induce sufficient VD to exacerbate an outflow pressure gradient.may induce sufficient VD to exacerbate an outflow pressure gradient. First degree relatives of patients with HCM should be screened by First degree relatives of patients with HCM should be screened by

echocardiography.echocardiography.


Complications of HCMComplications of HCM::1.1. Congestive heart failureCongestive heart failure

observed in individuals with severe cases of HCM. observed in individuals with severe cases of HCM. It may occur as a result of a combination of impaired diastolic It may occur as a result of a combination of impaired diastolic

function and subendocardial ischemia. function and subendocardial ischemia. Patients with CHF have a high likelihood of recurrent heart Patients with CHF have a high likelihood of recurrent heart

failure due to both mitral regurgitation and profound diastolic failure due to both mitral regurgitation and profound diastolic dysfunction.dysfunction.

2.2. Atrial fibrillation with mural thrombosis formationAtrial fibrillation with mural thrombosis formation Common late in the course of the diseaseCommon late in the course of the disease Anticoagulation is necessary in patients with chronic AFAnticoagulation is necessary in patients with chronic AF

3.3. Other types of arrhythmia (ventricular fibrillation, Other types of arrhythmia (ventricular fibrillation, supraventricular tachycardia associated with Wolff-supraventricular tachycardia associated with Wolff-Parkinson-White syndrome, ventricular tachycardia), Parkinson-White syndrome, ventricular tachycardia),

4.4. Infective endocarditis-occurs in 10% of patientsInfective endocarditis-occurs in 10% of patients → →Prophylaxis is indicated in patients with resting Prophylaxis is indicated in patients with resting

obstruction and MR obstruction and MR


5.5. Myocardial ischemia:-Myocardial ischemia:-despite normal epicardial despite normal epicardial coronary arteries,myocardial ischemia is common coronary arteries,myocardial ischemia is common in HCM. in HCM.

Potential causes of the ischemia are:Potential causes of the ischemia are: Increased muscle massIncreased muscle mass Elevated diastolic filling pressuresElevated diastolic filling pressures Enhanced myocardial O2 demand (increased wall stress)Enhanced myocardial O2 demand (increased wall stress) Systolic compression of arteriesSystolic compression of arteries Impaired vasodilator reserveImpaired vasodilator reserve

6.6. Sudden deathSudden death


PrognosisPrognosis: : Natural history is variableNatural history is variable HCM frequently causes no or only mild disability HCM frequently causes no or only mild disability

over a life time, and many patients achieve normal over a life time, and many patients achieve normal life expectance.life expectance.

In symptomatic ones it is a chronic illness with In symptomatic ones it is a chronic illness with lifestyle restrictions.lifestyle restrictions.

Mortality rate in individuals with HCM is 4% per Mortality rate in individuals with HCM is 4% per year. year.

The major cause of death in HCM is sudden cardiac The major cause of death in HCM is sudden cardiac death that may occur in asymptomatic patients.death that may occur in asymptomatic patients.


Predictors of SCD are:Predictors of SCD are:1.1. Age < 30yrs.Age < 30yrs.2.2. Patients with prior cardiac arrestPatients with prior cardiac arrest3.3. Patients with family Hx of sudden death due to Patients with family Hx of sudden death due to

HCMHCM4.4. Recurrent syncope or any Hx of syncope during Recurrent syncope or any Hx of syncope during

childhoodchildhood5.5. Marked ventricular hypertrophy ( >30mm)Marked ventricular hypertrophy ( >30mm)6.6. Sustained supraventricular or ventricular Sustained supraventricular or ventricular

tachycardiatachycardia7.7. Hypotensive response to exercise testing Hypotensive response to exercise testing 8.8. Specific mutations in genes encoding for troponin Specific mutations in genes encoding for troponin

T & myosin.T & myosin.


Identifiable & treatable mechanisms of SCD in Identifiable & treatable mechanisms of SCD in HCMHCM

Paroxysmal AF-amiodaronParoxysmal AF-amiodaron

Sustained monomorphic VT- amiodaron Sustained monomorphic VT- amiodaron ++ ICD ICD

Ischemia-high dose verapamil Ischemia-high dose verapamil

Conduction disease-pacemakerConduction disease-pacemaker

Accessory pathway -ablationAccessory pathway -ablation


There is no correlation between the risk There is no correlation between the risk of sudden death & the severity of of sudden death & the severity of symptoms or the presence or severity of symptoms or the presence or severity of the outflow tract pressure gradient!the outflow tract pressure gradient!


ReferencesReferences

1.1. Harrison’s principles of Internal Medicine, 16Harrison’s principles of Internal Medicine, 16 th th

edition, 2005.USAedition, 2005.USA

2.2. Concise Oxford Text Book of Medicine, 2000. UKConcise Oxford Text Book of Medicine, 2000. UK

3.3. European Journal of Cardiovascular prevention European Journal of Cardiovascular prevention and Rehabilitationand Rehabilitation

4.4. UpToDate online, 15.1, Feb.2007UpToDate online, 15.1, Feb.2007

5.5. Online References Online References

the cardiomyopathies

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