Hypertrophic cardiomyopathy (HCM) is a genetic heart condition characterized by abnormal thickening of the heart muscle. It was first described in 1900 and occurs in 0.02-0.2% of the population. HCM is caused by mutations in genes coding for sarcomere proteins and is usually inherited in an autosomal dominant pattern. Treatment focuses on reducing risks of complications like heart failure and sudden cardiac death through medications, implantable cardioverter-defibrillators, or invasive procedures like septal reduction therapy.

1. By M.elkhatib CIN

2.  First described by the French and Germans
around 1900
 a hypertrophied and non-dilated left ventricle
in the absence of another disease
 uncommon with occurrence of 0.02 to 0.2%
 small LV cavity, septal hypertrophy (ASH),
systolic anterior motion of the mitral valve
leaflet (SAM)

3. • First reported by Seidman et al in 1989
 HCM is a genetic condition which occurs as
autosomal dominant in 50%
 5 different genes on at least 4 chromosome with
over 3 dozen mutations
◦ chromosome 14 (myosin)
◦ chromosome 1 (troponin T)
◦ chromosome 15 (tropomyosin)
◦ chromosome 11 (?)

4.  The sarcomeres in the heart replicate causing
heart muscle cells to increase in size and the
heart muscle to thicken
 Causing myocardial disarray

6.  75-90% of HCM patients have abnormal ECG
 Some abnormalities due to LVH include voltage
abnormalities - prominent Q waves, and signs of
LA enlargement
 Giant inverted T waves in the precordial leads
characteristic of apical HCM

8.  Classic findings
 Asymetrical septal hypertrophy
 Small LV cavity
 Enlarged LA
 For LVOTO - systolic anterior motion (SAM) of the
anterior or posterior mitral leaflet

9.  Used when Hypertrophy is confined to the apex
which may be difficult to image with echo
 Contrast agents such as gadolinium may be used
to identify regions of fibrosis and scarring

10.  Cardiac cath helps exclude coronary disease as
the cause of angina in patients who have risk
factors for IHD.
 It can also measure LV outflow tract gradient.

11.  HCM can mimic other diseases such as
hypertensive heart disease and amyloidosis
 So many tests are conducted to diagnose

12.  Differentiating hypertensive heart disease from
HCM
 A wall thickness of greater than 20mm
 Assymetrical septal hypertrophy
 More concentric in in hypertensive heart disease
 Sam can occur in both diseases - however in the
presence of LVOT and assymetry HCM more
likely.

13.  Differentiate between athletes heart and HCM
 Family History
 ECG patterns
 Assymetric Hypertrophy
 Small left ventricular cavity size
 LA enlargement
 Abnormal LV filling pattern

15.  Annual mortality 3% in referral centers
probably closer to 1% for all patients
 risk of SCD higher in children
may be as high as 6% per year
majority have progressive hypertrophy
 clinical deterioration usually is slow

16.  Young age (<30 years)
 “Malignant” family history of sudden death
 Gene mutations prone to SCD
 Sustained VT or SVT
 Recurrent syncope in the young
 Nonsustained VT (Holter Monitoring)
 Brady arrhythmias

17.  Older adults with HCM have lower risk of SCD
 LV cavity of younger patients slightly different
shape
 Upper septal bulge and obstructive outflow tract
(older pts)
 Genetic sarcomere mutations are not the same in
children as adults

18.  beta-adrenergic blockers
 amiodarone, sotolol
 ICD
 myectomy
 Alcohol Septal Ablation

20.  The surgeon performs the operation by making an
incision in the aorta and looking down at the
septum through the aortic valve
 The amount of septal heart muscle removed is
variable depending on the patient.

21.  Aortic regurgitation
 LBBB
 Stroke
 VSD
 Mortality 1.5% to 3.2%

22.  HCM patients with defibrilators number of ICD
discharges for ventricular arrhythmias.
 Non-myectomy - 4.3%
 Myectomy 0.24%
 Mayo Clinic between 1992-2005.

23.  Electrolyte monitoring
 Hydration - dehydration decreases pre-load and
increases HR this can increase the outflow tract
gradient and obstruction
 Vigilent monitoring for arrhythmias
 Emotional Support
 Dental Hygiene
 GTN/inotropes not mainstay treatment for HCM
so should be questioned.

24.  Previous
sudden death
 High risk of
sudden death

25.  Relatively new technique
 Performed during cardiac catheterisation
 First performed at the Royal Brompton
Hospital by Ulrich Sigwart in 1994
 It is a minimally invasive procedure which
avoids general aneasthesia and its
associated complications
 The long term benefits over Myectomy are
still being debated

26. Alcohol solution
Injected into an artery
Supplying the
thickened
Heart muscle
Resulting in a
Controlled MI

27.  Patients generally experience a small amount of
pain lasting about 30 Mins.
 Length of stay in hospital is currently 2 days
 Analgesics and mild sedatives can be given for
alleviation of pain and anxiety

28.  Relief of obstruction is noted immediately in the
majority of cases
 Clinical success is defined a 50% or more
reduction in peak gradient and cardiac
remodelling across the outflow tract, predicting
continued improvement over 1- 2 yrs
 Over 90% of patients experience a successful
procedure with improvement in outflow gradient
and mitral regurgitation.

29.  Risk of re-entrant arrhythmias due to scarring
 Risk of CHB - Pacing
 RBBB
 Mortality - 1.2% - 1.3%

30.  Avoid most competitive sports (whether or not
symptoms and/or outflow gradient are present)
 Low-risk older patients (>30 yrs) may participate in
athletic activity if all of the following are absent

31.  Low-risk older patients (>30 yrs) may participate in
athletic activity if all of the following are absent
◦ ventricular tachycardia on Holter monitoring
◦ family history of sudden death due to HCM
◦ history of syncope or episode of impaired consciousness
◦ severe hemdynamic abnormalities, gradient ³50 mmHg
◦ exercise induced hypotension
◦ moderate or sever mitral regurgitation
◦ enlarged left atrium (³50 mm)
◦ paroxysmal atrial fibrillation
◦ abnormal myocardial perfusion