Download 25.9.2015 Sudden Cardiac Death - EMGO Institute for Health and

Sudden Cardiac Death:
A personal perspective
25.9.2015
Sudden Cardiac Death - a Decade of Cardiogenetics,
Lund, Sweden.
Martina Cornel,
professor of Community Genetics & Public Health Genomics, Amsterdam, NL
John, my oldest brother
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July 2010
• Holiday season
• John was with his wife and youngest son on a camping site
• He went swimming in the morning
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Not well? At side of pool – he did not answer
Cardiac problems – ventricular fibrillation
“Found” in the swimming pool
Ambulance, cardiopulmonary resuscitation 35 min, defibrillation
Wife and son arrived at swimming pool
• Brought to emergency care in regional hospital
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At emergency care
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Ultrasound heart: Septum and posterior wall >20 mm
Hypertrophic cardiomyopathy
Ventricular fibrillation
Resuscitation not succesfull
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Wife & children were present
“When asked, patient was not aware of HCM”
“No cardial symptoms”
“Family history negative”
• Letter of intervention cardiologist: If family accepts, advisable to
investigate his children
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Meanwhile in USA
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Holiday season for Martina and family
At Indian Village, Cherokee, North Carolina
Someone tried to call me…
Phone back home please (to my mother)
To hotel
• John has passed away
• Swimming, sudden death, enlarged heart at ultrasound
• I remembered that a sister of my mother died when swimming
after lunch… that’s why we were told not to swim after lunch
• Flight back a.s.a.p.
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One month later
• Wife & children had no news about John’s cause of death
• Their primary care physician just returned from holidays
• Martina calls GP: He’s not the GP of John!
• Martina calls army GP: Indeed letter from one week after death!
• Holiday season… nobody had paid attention to it as yet
• Not allowed to inform you…
• Martina ask: hypertrophic cardiomyopathy?
• Army GP: yes indeed!
• Martina: Did you realize that you just now informed me of my
50% risk?
• Army GP: no, the letter only mentions children…
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From clinical diagnosis to DNA
• Referral to department of clinical genetics AMC
• Pathologist had not frozen any tissue
• John was donor!
• Bones for transplant – one sent to clinical genetics department
• DNA test: one of the most frequent HCM mutations in Northern
Netherlands identified!
• Several family members also have mutation
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No symptoms before?
• In dossier army GP: already 1983 (25y): symptoms of
lightheadedness, dizziness, cardiologic assessment
• septal hypertrophy
• 1999 (41y) cardiology: ECG abnormalities, septum 20 mm
• No complaints, no follow up..
• We spoke to the latter cardiologist in 2011: he would act
different today. At that time, waited for symptoms and then
would see patient back, no follow up appointments.
• He said he informed John of the diagnosis…
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More to learn for future?
• Army health service now has protocol to inform family members
of post mortem results,
• even in holiday season
• Army organized symposium on sudden cardiac death
(his son & sister present)
• Pathology department now has protocol to freeze tissue in case
of suspicion of genetic diagnosis
• At that time: control region for cardiogenetic research, now
more awareness
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Other family members
• One had cardiac syptoms at 45y: GP advice to take
paracetamol since he was too young for “real CVD”
– Now medication & surveillance by cardiologist
• One is healthy, athletic (58y): now candidate for atrial flutter
ablation
• Several family members including some young athletic cousins
& nieces & nephews: no mutation, therefore no increased risk,
no follow up needed
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Oncogenetics vs. cardiogenetics
• National TV Netherlands:
Niet weten dat je erfelijke borstkanker hebt
Nieuwsuur: Opsporing erfelijke borstkanker moet beter |
NOS, NTR, 27 aug 2015
Je hoort op 35-jarige leeftijd dat je uitgezaaide borstkanker
hebt. Vervolgens blijkt dat je geen kanker had hoeven krijgen
als je eerder had geweten dat je erfelijk belast was. Die
informatie is ergens bekend, maar niet bij jou.
• Call to become more active in informing family members at risk,
especially if preventive interventions are available
• From right-not-to-know to right-to-know in genetics
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Take home message
• Doctors treat individual patients, but genetic conditions affect
families
• Sisters are first degree relatives
• Post mortem results must be communicated to family
• Freeze tissue (or secure DNA for future DNA test) when
considering genetic disease
• Develop multidisciplinary teams & protocols for care of sudden
cardiac death patients and their families –
AS YOU DID 10 YEARS AGO – CONGRATULATIONS!
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