hypertrophic cardiomyopathy-a case report

1. HYPERTROPHIC CARDIOMYOPATHY-A CAUSE OF SUDDEN DEATH
-A CASE REPORT
Dr. DEBARSHEE CHAKRABORTY
POST GRADUATE TRAINEE,
DEPARTMENT OF FORENSIC MEDICINE
AND TOXICOLOGY, GAUHATI MEDICAL
COLLEGE, GUWAHATI.
Dr. RITURAJ CHALIHA
PROFESSOR AND HEAD , DEPARTMENT
OF FORENSIC MEDICINE AND
TOXICOLOGY, GAUHATI MEDICAL
COLLEGE, GUWAHATI

3. • Hypertrophic cardiomyopathy (HCM) is a primary disease of the
myocardium (the muscle of the heart) in which a portion of the myocardium
is hypertrophied (thickened) without any obvious cause . It is a leading
cause of sudden cardiac death in young athletes. Younger people are likely to
have a more severe form of hypertrophic cardiomyopathy.
• HCM is frequently asymptomatic until sudden cardiac death, and for this
reason some suggest routinely screening certain populations for this disease.
• A cardiomyopathy is a disease that affects the muscle of the heart. With HCM,
the myocytes (cardiac contractile cells) in the heart increase in size, which
results in the thickening of the heart muscle. In addition, the normal
alignment of muscle cells is disrupted, a phenomenon known as myocardial
disarray.
• HCM also causes disruptions of the electrical functions of the heart.

4. • HCM was initially described by Teare in 1958
• Found massive hypertrophy of ventricular septum in small
cohort of young patients who died suddenly
• Braunwald was the first to diagnose HCM clinically in the 1960s
• Many names for the disease
Idiopathic hypertrophic subaortic stenosis (IHSS)
Muscle subaortic stenosis
Hypertrophic obstructive cardiomyopathy (HOCM)
• Prevalence of HCM: 1:500 to 1:1000 individuals
• This occurrence is higher than previously thought, suggesting a
large number of affected but undiagnosed people
• Men and African-Americans affected by almost 2:1 ratio over
women and Caucasians
• Global disease with most cases reported from USA, Canada,
Western Europe, Israel, & Asia

5. HCM is most commonly due to a
mutation in one of 9 sarcomeric genes
that results in a mutated protein in the
sarcomere, the primary component of
the myocyte (the muscle cell of the
heart).
These are predominantly single-point
missense mutations in the genes for
beta-myosin heavy chain (MHC),
myosin-binding protein C, cardiac
troponinT, or tropomyosin. These
mutations cause myofibril and myocyte
structural abnormalities and possible
deficiencies in force generation.

6. • Familial hypertrophic
cardiomyopathy is inherited as an
autosomal dominant trait
• In individuals without a family
history of HCM, the most common
cause of the disease is a de novo
mutation of the gene that produces
the β-myosin heavy chain.
• An insertion/deletion
polymorphism in the gene
encoding for angiotensin
converting enzyme (ACE) alters the
clinical phenotype of the disease.
• The D/D (deletion/deletion)
genotype of ACE is associated with
more marked hypertrophy of the
left ventricle and may be
associated with higher risk of
adverse outcome

7. ASYMTOMATIC
HYPERTROPHIC CARDIOMYOPATHY
MILDLY SYMPTOMATIC
Dyspnea (shortness of breath)
Chest pain (angina)
Palpitations
Lightheadedness, fatigue, fainting (called
syncope)
Sudden cardiac death
“jerky” rapidly rising pulse, an apical systolic murmur which increases with the
Valsalva manoeuvre , a fourth heart sound.
ECG) may show abnormalities including voltage criteria for left ventricular
hypertrophy, T-wave inversion and Q waves

8. Risk Stratification for Sudden Cardiac Death in HCM
Major Risk Factors • Left ventricular wall thickness ≥ 30 mm
• Family history of premature sudden cardiac
death
• Previous cardiac arrest/ventricular tachycardia
• Previous episodes of documented NSVT (≥ 3
beats, rate ≥ 120 bpm)
• Unexplained syncope
Other Risk Factors • Abnormal blood pressure response to
exercise*
• Evidence of myocardial ischaemia
• Left ventricular outflow tract obstruction (≥ 30
mmHg at rest, or with
• provocation
* Abnormal blood pressure response to exercise is defined as an increase in systolic BP <
20mmHg, no rise, or a fall in BP > 20mmHg during exercise, or a disproportionate fall in
blood pressure immediately post-exercise. NSVT = nonsustained ventricular tachycardia,
bpm = beats per minute.

9. • Can be asymmetric
• Wall thickness >15 mm
• Left atrium >40 mm
• Left ventricular end diastolic diameter
(LVEDD) <45 mm
• Diastolic function – Always abnormal

10. * Significant amount of
infiltration
* Myocardial
* Myocardial
Echocardiography,
Cardiac catheterization
Cardiac MRI
ECG and genetic test
Cardiac biopsy

13. On external examination, the
dead body was found to be of
Heavy built and brown
complexion with eyes and
mouth closed. No external
injuries were found.
Rigor mortis was found to be
fully developed over whole
body and Postmortem
hypostasis was present and
fixed and Body was cold on
touch.

14. On internal examination, all the organs were found to be
congested.
Lungs:

15. Liver and GB :
Kidney:: Brain:

17. The heart was found
massively enlarged weighing
790 grams.
Left ventricular wall
thickness: 4.6 cm
Right ventricular wall
thickness: 4.1 cm
Left atrial thickness: 2 cm
Right atrial thickness: 1.6 cm

18. 12 to 24 hours
Opinion regarding the cause of death has been kept
pending till the receipt of Histo-Pathological Examination
report from the Deptt. Of Pathology GMCH.

19. THANK
YOU