journal reading

-mardhatillah marsa-
Cardiomyopathies-Misdiagnosed as Sudden
Infant Death Syndrome (SIDS)
-R.B Dettmeyer, R. kandolf-
Institute of Forensic Medicine, Frankfurt,
Germany
2009
 journal reading
-mardhatillah marsa-
Cardiomyopathies-Misdiagnosed as Sudden
Infant Death Syndrome (SIDS)
-R.B Dettmeyer, R. kandolf-
Institute of Forensic Medicine, Frankfurt,
Germany
2009
INTRODUCTION
Suddent Infant Death Syndrome
Kematian mendadak pada bayi berusia kurang dari 1
tahun yang tidak dapat dijelaskan penyebab kematiannya
baik setelah dilakukan otopsi menyeluruh, pemeriksaan
tempat kematian, dan pemeriksaan riwayat medis bayi
serta keluarganya.
Insiden terjadinya SIDS di negara-negara Asia sebesar
0.04 per 1000 kelahiran hidup.
SIDS lebih sering terjadi pada anak laki-laki (60-
70%).
Penyebab pasti hingga kini tidak diketahui
Hipotesis utama terjadi keterlambatan perkembangan
inti sel dan sel saraf di otak yang berperanan penting
pada fungsi jantung dan paru.
 Kardiomiopati

Kardiomiopati adalah sekelompok kelainan

jantung akibat abnormalitas struktur jantung
yang terbatas pada miokardium (otot jantung)
Leonard S. Lilly
Tipe Kardiomiopati
Kardiomiopati
Dilatasi
Kardiomiopati
Hipertrofik
Kardiomiopati
Restrikrtif
Epidemiologi
Insidensi 2 8 kasus per 100.000 anak,
dengan prevalensi 36 per 100.000 penduduk
(2005)
Prevalensi sulit dideteksi secara akurat
karena sulitnya diagnosa dan sering mendadak
muncul sebagai sudden cardiac death
Etiologi
 Familial, autosomal dominant
Gen yang berpengaruh adalah -myosin heavy
chain (-MHC), troponin jantung, dan myosin
binding protein
Gabungan peptida yang termutasi ini diduga
mengakibatkan kerusakan fungsi kontraksi
Hal ini menyebabkan stress pada miosit yang
diduga mengakibatkan kompensasi yaitu
hipertrofi dan proliferasi fibroblas
Contoh: mutasi -MHC yang menyebabkan
kelainan kelistrikan jantung
Patologi

Sebagian miofibril hilang

Normal

Fibrosis (biru)
Patologi
The Aim of this research

To improve Histological and

Immunohistochemical findings so can point to
a cardiomyopathy as underlying disease
Previous microscopical investigations of
different parts of the myocardium to
explaining the causation of death
Find out different forms cardiomyopathy in
cases of suspected SIDS
How to do this research?
3 Cases of suspected SIDS without
macroscopic abnormalities
obtained 8 postmortem tissue samples of
myocardium from defined location
doing the routine histology and
immunohistochemical investigation
All samples had been fixed in neutral
buffered formaldehyde (pH 7.0) for a maximum
of 48 h.
Case no 1
A 4-month-old male baby was found lifeless in his bed
after a longer sleeping period
Autopsy just revealed some petechiae subpleural and
subepicardial and under the capsule of the thymus
Histological investigations showed a severe inter-
stitial and especially perivascular fibrosis
There were regions with infiltrations of CD68+-
macrophages including sub-epicardial fat tissue and the
myocardium
The immunohistochemical investigation could demonstrate
an infection with enteroviruses, here coxsackievirus type
B3 (CVB3), a virus type which is known to be
cardiotropic.
Therefore a cardiomyopathy inflammatory type was
diagnosable as cause of death.
a.Diffuse severe
perivascular
fibrosis in the
myocardium

b.Edema and
moderate increase
of myocardial
interstitial cells

c.Diffuse and
focal infiltration
of CD68+-
macrophages in
subepicardial fat
tissue and the
myocardium
Case no 2
An 11-month-old female baby was found lifeless by
her mother on the back seat of the car, shortly
after having started to sleep
Histological investigations showed deep trabe-
culations with a spongiform myocardium and partly
an irregular arrangement of myocardial fibers in
left ventricular anterior wall
These typical findings lead to the diagnosis of a
left ventricular non-compaction cardiomyopathy
(LVNC) as cause of sudden death
A genetic basis is suggested to LVNC with mutation
of genes G4.5, located on Xq28, FRKBP12, and 11p15
a.Deep trabeculation

b.Spongy myocardium
with CD34+-endothelium
in the left ventricular
anterior wall.
Case no 3
A 6-month-old male baby was found lifeless in a prone position
in the early morning
Autopsy already presenting livores and rigor and revealed no
pathological findings
Histological investigations demonstrate an irregular
arrangement of myocardial fibers in parts of the left
ventricular anterior wall
The myocardial fibers present y-like formations and differences
in the size of the myocardial fibers and nuclei (myocyte
hypertrophy), partly a moderate increased interstitial fibrosis
was found
Therefore, the initial phase of a developing primary
Hypertrophic cardiomyopathy was diagnosed, although there were
other regions in the myocar- dium devoid of these changes.
Case No. 3irregular arrangement of
myocardial fibers in the left ventricular
anterior wall
Discussion
5-10% Cardiomyopathy affected indivudals are
young and apparently healthy
Sudden cardiac death is one of the most
common causes of death
In cases of suspected SIDS, these
cardiomyopathy cannot be identified
macroscopically by konvensional autopsy
Additional histological and
immunohistochemical investigation can lead
to the right diagnosis
More effort should be taken into further
research to find out the incidence of
cardiomyopathies
Thank You..