Hypertrophic cardiomyopathy

Define

• In adults• HCM is defined by a wall thickness ≥ 15 mm(>13 mm in first-degree

relatives) in one or more left ventricular (LV) myocardial segments, whatever the imaging technique (echocardiography, cardiac magnetic resonance[CMR] or computed tomography), without any explained loading conditions

• In children• Diagnosis of HCM requires an LV wall thickness more than two standard

deviations greater than the predicted mean

Aetiology

• Sarcomeric HCM (by mutations in cardiac sarcomere protein genes):40–60% • Unknown :25–30%• Genetic or non-genetic causes:5–10%• Metabolic disorders• Mitochondrial cardiomyopathies• Neuromuscular disease• Malformation syndromes• Infiltrative disease, endocrine disorders, heart disease and chronic use of

drugs [anabolic steroids and hydroxychloroquine

Assessment by ECHO

• The presence or absence of a left ventricular outflow tract(LVOT) obstruction must be assessed at rest and during physiological provocation, such as the Valsalva manoeuvre. The threshold remains at 30 mmHg for the instantaneous peak Doppler LV outflow tract pressure gradient at rest, and exercise echocardiography is not recommended in asymptomatic patients with a gradient > 50 mmHg at rest.

Syncope evaluation

• ECG• Upright exercise test• 48-hour ambulatory ECG monitoring• Recurrent episodes of unexplained syncope: implantable loop

recorder• Palpitations :48-hour Holter ECG• Electrophysiological testing :Not recommended for risk stratification

or for the exploration of syncope; testing is indicated for the assessment of persistent or recurrent supraventricular tachycardia, for ventricular pre-excitation or for sustained monomorphic ventricular tachycardia.

Genetic counselling

• The relations of proband• Post-mortem for deceased Proband• If no causative mutation was characterised in the proband with HCM,

then family screening is solely based on cardiac screening with ECG and echocardiography, which should be considered in first-degree relatives aged ≥ 10years, and should be repeated every 1 or 2 years between 10—20 years of age and every 2 or 5 years thereafter, as delayed cardiac expression of HCM is observed quite often, even in adults• Mutation carrier without cardiac expression (preclinical phase of

HCM), the guidelines mention that sporting activity may be allowed, taken into account the type of sport, the underlying mutated gene and the results of regular and repeated cardiac examinations.

Symptomatic

• Still high-dose beta-blockers• verapamil if does not Beta blocker• Disopyramide maybe combined with beta-blockers to reduce the

gradient in symptomatic

Symptomatic

• Septal reduction• NYHA III—IV despite maximum-tolerated medical Rx and with a gradient > 50 mmHg;• Unexplained recurrent syncope with < 50 mmHg LOVT gradient

• Morrow procedure in young with septal hypertrophy ≥ 17 mm• In case of indication for ICD, a dual-chamber ICD may be considered

in patients with LVOT obstruction ≥ 50 mmHg, NSR and drug-refractory symptoms• Rx CHF• Rx for Afib

7 risk of sudden death

• Age• family history of sudden cardiac death at a young age• maximum LV wall thickness• left atrial diameter• LVOT obstruction• non-sustained ventricular tachycardia• unexplained syncope.

5 Year risk of SCD for primary prevention using 7 risk factors

• low risk (< 4%)-No ICD

• intermediate risk (4—6%)-May be ICD

• high risk (> 6%)-ICD

1. Age2. Family history of sudden

cardiac death at a young age3. Maximum LV wall thickness4. Left atrial diameter 5. LVOT obstruction6. Non-sustained ventricular

tachycardia7. Unexplained syncope

• http://www.doc2do.com/hcm/webHCM.html

Routine follow-up

• 12-lead ECG and ECH every 12—24 months • Close F/U of symptomatic • A 48-hourambulatory ECG is recommended every 12—24 months in

stable patients, every 6—12 months in patients in sinus rhythm with left atrial dimension ≥ 45 mm and whenever patients complain of new palpitations• CMR may be considered systematically every 5 years in clinically

stable patients and every 2—3 years in patients with progressive disease• Exercise testing may be considered every 2—3 years in stable

patients and every year in case of progressive symptoms

Reproduction

• No gradient or mild gradient are low risk • Significant gradient across the LVOT posses risk and should be on

Beta blocker with fetal monitoring

Lifestyle

Competitive sports activities are contraindicated Watch on weight , dehydration and excess alcohol Sexual activity

Normal PDE-5 inhibitors avoided in LVOT obstruction

Close watch on Rx and side effects Eligible for an ordinary driving licence With ICD, follow EHRA and local recommendations Except for heavy manual jobs with strenuous activity Life insurance for children of the patients

Naked truth

Epidemiology

•  Genetic disorder•  1:500 in the general adult population• Men= women • Heterogeneous Geno and phenotypes

Spectrum

• Myocardial disease• Genetic origin(acquired or inherited)• Asymptomatic  to heart failure arrhythmias and sudden death.

HCM vs. HOCM

• HCM No gradient at rest or at exercise

• HOCMOutflow gradients are common in HCM, present in 70% of patients at rest or with physiological exercise

Risk

• Annual mortality rate in obstructive HCM is ~ 4 % • High risk 

• Onset of  age• frequent unstained VT•  syncope•  resuscitated sudden death• Family history of sudden death• Effort angina• Effort dyspnea

ACC/ESC Consensus-2003

1. Cardiac arrest (ventricular fibrillation)

2.   spontaneous sustained VT

3. family history of premature sudden death

4. Unexplained syncope

5. LV thickness ≥ 30mm

6. Abnormal exercise blood pressure

7. Non-sustained ventricular tachycardia (on Holter monitoring)

Goal of Medical treatment

• Reduce HR• Reduce contractility• Reduce oxygen consumption• Reduce filling pressure

• Beta blocker• Verapamil• Disopyramide

Therapeutic options

Without Obstruction

With obstructionAfter medical Rx exhausted

Dyspnoea-Beta blocker and diuretic

ASA Myomectomy 

1st ALCOHOL SEPTAL ABALATION[ASA]

• Nonsurgical • Professor Ulrich Sigwart•  Royal Brompton Hospital• 1994• Injection of 1 to 4 mL of 96% ethanol into the first septal perforator

branch of the left anterior descending coronary artery to produce a basal septal myocardial infarction and ultimately remodeling of the LV outflow tract

Map before ASA

• Inject  Levovist and map the hypertrophy topology using TTE 

ASA in cath Lab

Pig tail catheter in the LV   ATW angioplasty guide in the first septal artery OTW 1.5-20 mm balloon into 1st  septal artery  Injecting two boluses of  1-4 ml of 96%  into septal artery distal to 

the balloon, 0.5 to 1.0 mL aliquots at 1 mL/min .  Assess for 

Chest pain Cardiac enzymes RBBB Gradient reduction VSD

Ablation Cath: Septal Perforator

Septal abalation

Alcohol septal ablation

• Pre-ablation

• Post-ablation

Advantages of ASA

1. No chest opening

2. No CPB

3. Myomectomy is contra indicated

Eligibility criteria for ASA

1. Symptomatic even with optimum MM

2. Dynamic LVOT obstruction caused by systolic anterior motion of the mitral valve (gradient 30 mm Hg at rest or 50 mm Hg with provocation)

3. ventricular septal thickness > 15 mm but <25 mm

4. the absence of significant intrinsic mitral valve disease;

Complications of ASA

1. Mortality -1-4%

2.Conduction abnormalities are relatively common complications of PTSMA, with permanent right bundle branch block and transitory heart block in about 50% and high-gradeAV block requiring permanent pacemakers in 5% to 20%.

1.complete heart block - monitoring for 4 to 5 days.

1.AWMMI due to ethanol reflux

Procedural success

• 50% reduction in the peak LVOT gradient observed at rest or, after provocation with a final residual resting gradient of <20 mm Hg in the absence of death or need for emergency surgery up to 3 months

Risk factors for CHB

1. Rapid administration, large volumes of ethanol.

2. Smaller doses of ethanol (1 to 2 ml) over longer time periods (5 to 10 min) has decreased the incidence of CHB

3. Risk factors for CHB• LBBB• first-degree atrioventricular block• female • volume of alcohol• number of septal perforators treated

Different mechanisms

ASA Myectomy

• Scar less• SCAR

Morrow procedure-30% of LV or 10% IVS

• Cut 30% IVS or 10% LV mass

Bad days of myomectomy

In the early 1990s, a time when myectomy was associated with relatively high mortality (up to 8%), dual-chamber pacing with short

A-V delay was promoted as a surgical alternative for gradient

and symptom relief

Survival benefit

Myectomy also promotes long-term survival. Operated patients experience enhanced longevity indistinguishable from that expected in the general population and superior to that of non operated patients with obstruction

After Myectomy, survival free from all-cause mortality is 98%, 96%, and 83% at 1, 5, and 10 years, and survival free from HCM-related mortality (heart failure and sudden death) is 99%, 98%, and 95%, respectively. Therefore, surgical septal myectomy favorably alters the natural course of HCM, providing a reasonable expectation for normal or nearly normal life expectancy

Surgical Myectomy

0.5

0.6

0.7

0.8

0.9

1.0

0 2 4 6 8 10

I 1 30

II 2 24

III 48 7

IV 14 0

NYHA Pre PostNYHA Pre Post

ObstructiveObstructive

Obstructive Post-myectomyObstructive Post-myectomy

Operative mortality 0.8%

Ommen S et al. J Am Coll Cardiol 2005

Operative mortality 0.8%

Gradient reduction 67.3%

Post-op NYHA 1-2 94%

Myectomy for severely symptomatic Myectomy for severely symptomatic HOCM is safe and effectiveHOCM is safe and effective

Ommen S et al. J Am Coll Cardiol 2005

Ablation vs. Myectomy

4 Comparison Studies - 279 patients

Procedural Mortality (%)

0.9

1.3

0

0.2

0.4

0.6

0.8

1

1.2

1.4

Myectomy Ablation Nagueh et al. Nagueh et al. JACCJACC 2001 38(6) 2001 38(6)Qin et al. Qin et al. JACCJACC 2001 38(7) 2001 38(7)Firoozi et al. Firoozi et al. Eur Heart JEur Heart J 2002 23(20) 2002 23(20)Ralph-Edward et al. Ralph-Edward et al. Circ Circ 20052005

Ablation vs. Myectomy

4 Comparison Studies - 279 patients

Gradient reduction

71

7

75

15

0

10

20

30

40

50

60

70

80

Myectomy Ablation

Nagueh et al. Nagueh et al. JACCJACC 2001 38(6) 2001 38(6)Qin et al. Qin et al. JACCJACC 2001 38(7) 2001 38(7)Firoozi et al. Firoozi et al. Eur Heart JEur Heart J 2002 23(20) 2002 23(20)Ralph-Edward et al. Ralph-Edward et al. Circ Circ 20052005

Ablation vs. Myectomy

4 Comparison Studies - 279 patients

Symptom Improvement

2.97

1.31

3.17

1.55

0

1

2

3

4

Myectomy Ablation Nagueh et al. Nagueh et al. JACCJACC 2001 38(6) 2001 38(6)Qin et al. Qin et al. JACCJACC 2001 38(7) 2001 38(7)Firoozi et al. Firoozi et al. Eur Heart JEur Heart J 2002 23(20) 2002 23(20)Ralph-Edward et al. Ralph-Edward et al. Circ Circ 20052005

Ablation vs. Myectomy4 Comparison Studies - 279 patients

Procedural Mortality (%)

0.9

1.3

0

0.2

0.4

0.6

0.8

1

1.2

1.4

Myectomy Ablation

Ablation vs. Myectomy

4 Comparison Studies - 279 patients

Non-fatal Complications (%)

2

13

0

2

4

6

8

10

12

14

Myectomy Ablation

At least 5 VFarrests

Nagueh et al. Nagueh et al. JACCJACC 2001 38(6) 2001 38(6)Qin et al. Qin et al. JACCJACC 2001 38(7) 2001 38(7)Firoozi et al. Firoozi et al. Eur Heart JEur Heart J 2002 23(20) 2002 23(20)Ralph-Edward et al. Ralph-Edward et al. Circ Circ 20052005

Dynamic ObstructionDynamic Obstruction

MoreMoreDiffuseDiffuse

Valvular anatomyValvular anatomy

AbnormalAbnormal NormalNormal

BasalBasalLVOTO onlyLVOTO only

MyectomyMyectomy MyectomyMyectomySeptal ablationSeptal ablation

MyectomyMyectomy

What makes an ideal alcohol septal ablation candidate?

1. Basal septal bulge

2. SAM3. Posterior MR4. Moderate labile

gradient5. Comorbidities

Radiofrequency catheter septal ablation

• Alternative

Coil embolization

• Few number

Conclusion

• Myomectomy for persistent LVOT obstruction is gold Standard care for HOCM when symptoms persist after optimal medical management to further improve in the quality of life and symptom and consistent reduction in left ventricular outflow tract gradient

• ASA is an alternative treatment

Laugh loudly if you already know