Journal Reading

Sudden cardiac death in forensic

medicine – Swiss recommendations
for a multidisciplinary approach

By:
Mohd Fauzan Arif Bin Mat Nudin

Supervisor:
dr. Kunthi Yulianti, Sp.KF
SUMMARY
• Sudden cardiac death (SCD)  unexpected and cardiac in
nature the investigation is almost invariably performed by a
forensic pathologist
• The Swiss Society of Legal Medicine created a
multidisciplinary working group (clinical and molecular geneticists
+ cardiologists)  harmonising the approach to investigate SCD.
• The aim of this paper is to close the gap between the Swiss
recommendations for routine forensic post-mortem cardiac
examination and clinical recommendations for genetic testing of
inherited cardiac diseases; this is in order to optimise the
diagnostic procedures and preventive measures for living family
members.

Key words: sudden cardiac death; forensic autopsy; postmortem genetic testing;
genetic counselling
INTRODUCTION
SUDDEN
CARDIAC DEATH
(SCD)
major public health issue
worldwide
Incidence of SCD in the young
(aged 5–39 years) is
1.71/100,000 person-years
• 2.73 for men
• 0.69 for women
It might be higher
The autopsy rate (47.5%) =
lower than other countries
Middle age (IHD)
In Switzerland
Children and young
recommendations adults (genetically
on genetic testing cardiac pathologies)
The availability, or lack, of proband DNA
was identified as the flow-limiting step
The current international
recommendations on genetic testing do not
address practical aspects for our Swiss
practice
Recommendations on the
interdisciplinary collaboration
AETIOLOGY
>35 YEARS
coronary artery disease
(CAD)
 80% of SCD cases are
attributed to CAD
remaining 5–10%:
• structurally abnormal
congenital cardia condition, or
• to arrhythmias without any
structural changes
<35 YEARS
cardiomyopathies or a
morphologically normal heart
• 10–15% SCD result from
cardiomyopathies with a
morphological substrate
hypertrophic cardiomyopathy
(HCM), dilated cardiomyopathy
(DCM), arrhythmogenic right
ventricular cardiomyopathy
(ARVC), non-compaction
cardiomyopathy (NCCM), or
myocardial infiltrative diseases
AETIOLOGY
1. the autopsy failed to identify the cause of death and
Autopsy-
2. non-cardiac aetiologies were excluded (e.g., drug
negative SCD
overdose by toxicological analyses).

Morphological observed at autopsy and/or upon histopathological

Alterations examination, for example, HCM, DCM, ARVC or NCCM

can be diagnosed only
after molecular
genetic analyses!
Related to cardiac
channelopathies:
 congenital long QT syndrome
(LQTS)
 Brugada syndrome (BrS)
 catecholaminergic polymorphic
ventricular tachycardia (CPVT)
AETIOLOGY
SDC MANAGEMENT IN SWITZERLAND
SCD seizes the corpse to determine
district attorney’s
and initiates an the manner of
(DA’s) office
SUD inquiry death

• Preliminary forensic examination : scene investigation, performed by specially

trained physicians who evaluate the findings at the scene and the medical history.
• If third-party involvement is excluded, the DA will often refrain from
commissioning further examinations, such as an autopsy.
• As younger individuals often do not have a medical history  the DA usually
commissions a forensic autopsy

Genetic testing during the course of autopsy is rarely performed as:

1. medical diagnostics are not a priority for the DA,
2. costs of genetic analysis would be supported by the DA, and
3. the feedback of results to the next-of-kin raises several ethical issues.
SDC MANAGEMENT IN SWITZERLAND
AUTOPSY
The post-mortem heart examination should be performed
for all cases of SCD under 40 years of age
forensic pathologist could
no morphological cause “undetermined” or not find any
no toxicological cause “functional death” structural/morphological
Biochemical analysis clear can be postulated substrate as the cause of
death.
In the autopsy report of SUD
genetic testing should be
cases and where a genetically
mentioned and the appropriate
determined cardiomyopathy is
samples should be collected
diagnosed

• additional samples will be stored for 5 years.

• should be stored at least at –20 °C (ideally at –80 °C), initially in the
laboratory of forensic medicine.
• The samples can then be sent for genetic analysis with the agreement of the DA
MULTIDISCIPLINARY CARDIOGENETIC
COUNSELING AND INFORMATION
 If the relatives contact the forensic pathologist
multidisciplinary counselling should be organised if an inherited
cardiac disorder is suspected, and if wished for, initiated by the forensic
pathologist.

 The forensic pathologist is encouraged to attend this

multidisciplinary cardiogenetic counselling (at least a cardiologist and a
clinical geneticist)

 The information concerning the autopsy results, the risk of a genetic

disease and further examinations, such as a post-mortem genetic testing
of the deceased should be discussed during this multidisciplinary
counselling.
MULTIDISCIPLINARY CARDIOGENETIC
COUNSELING AND INFORMATION
the proposed course of action

the clinical recommendations

Existing Swiss should allow
(HRS/EHRA Expert Consensus
recommendations the gap to be
Statement on the State of Genetic
for routine forensic closed between
Testing for the Channelopathies
cardiac examination
and Cardiomyopathies)

Synchronisation of autopsy standards with multidisciplinary

cardiogenetic counselling  ↑ the management of these rare but
complex cases and the diagnostic and potential therapeutic procedures for
the living family members.
KEY POINTS

The autopsy of sudden death victims under 40 years of age is strongly recommended

Frozen (at least –20 °C, ideally –80 °C) post-mortem material for possible genetic
testing (EDTA blood and/ or tissue) should be collected and stored for at least 5 years
upon permission from the DA

The family should be informed about the autopsy results.

Multidisciplinarycardiogeneticcounsellingfor the family of a SCD victim with a

suspected inheritable cardiac disorder is recommended

The recommended time to perform post-mortem genetic testing is after a cardiogenetic

counselling of the family.
CRITICAL APPRAISAL
TITLE:
Sudden cardiac death in forensic medicine – Swiss
recommendations for a multidisciplinary approach

Author and Co-authors:

Matthias Wilhelma Stephan A Bolligerb, Christine Bartschb, Siv Fokstuenc,
Christoph Gränia, Viktor Martosb, Argelia Medeiros Domingod, Antonio
Osculatie, Claudine Rieublandf, Sara Sabatassog, Ardan Sagunerh, Christian
Schymai, Joelle Tschuii, Daniel Wylerj, Zahurul A. Bhuiyank, Florence
Fellmannk, Katarzyna Michaudl
VALIDITY
1. Did the review address a clearly focused question
Yes,

The aim of this article review is to close the gap between the Swiss
recommendations for routine forensic post-mortem cardiac examination
and clinical recommendations for genetic testing of inherited cardiac
diseases.

2. Did the authors look for the right type of paper?

Yes,

The author cited articles which appropriate with the topic of review, such
as cardiac disease, post-mortem genetic and molecular testing, genetic
counseling, forensic autopsy, and also ethical and legal problems of those
VALIDITY
3. Had all important and relevant study been included?

Yes,
This review used enough amount of study (32) from validated journal,
which were important and relevant with the focus of review. The authors
use valid sources from the last 10 years.

4. Did the review’s authors do enough to assess the quality of

the included studies?
Not sure,

The author did not explain the inclusion and exclusion criteria, keyword,
or search engine which were used to get the studies, meanwhile this
article is article review so this condition was acceptable
VALIDITY

conclusion:

This journal is VALID

IMPORTANCE

1. Do review of the study really give important information?

This article review give an important information in the form of

flowchart of recommended action after a sudden cardiac death (SCD) and
forensic autopsy. It also point out several key points, such as:

• The autopsy of sudden death victims under 40 years of age is strongly

recommended.
• Frozen (at least –20 °C, ideally –80 °C) post-mortem material for possible
genetic testing should be collected and stored for at least 5 years upon
permission from the DA.
• The family should be informed about the autopsy results.
• Multidisciplinary cardiogenetic counselling for the family of a SCD
victim with a suspected inheritable cardiac disorder is recommended.
• The recommended time to perform post-mortem genetic testing is after a
cardiogenetic counselling of the family.
IMPORTANCE
2. How precise are the results?

This article is literature review, so the author had not done any statistical
calculation to determine the precision of the result.

The result in this article is based on individual review on several study which
were relevant with its focus and be explained in narration and tables

conclusion:

This journal is IMPORTANT

APPLICABILITY

1. Can the results be applied to the local population?

Yes,

This article reviewed etiology of SDC, autopsy in SDC, and the importance of
multidisciplinary approach in SDC cases which have similar urgency and issues
in Indonesia. This article also gave the recommended course of action in Swiss
forensic practice for sudden death in flowchart which could be adapted to local
framework.
APPLICABILITY

2. Is all the needed source, facility, and cost available?

We have source and facility to do forensic autopsy, post-mortem genetic testing,

and multidisciplinary team to give genetic counseling for sudden cardiac death
cases. The obstacle come from the cost that will be spent for those procedure
and now those just should be done with special indication.

conclusion:

This journal is APPLICABLE

CONCLUSION OF JOURNAL

VALID, IMPORTANT, AND

APPLICABLE
THANK YOU