[SCD-FORUM] EXPERTS ASK, EXPERTS ANSWER

[SCD Symposium]

Dr. Leonid Makarov, from Russia asks

- Is in necessary to perform diagnostic studies in family members of  
a victim of sudden death by noncoronary origin, if this victim is  
young (up to 45 years old) and had no background of cardiological  
disease? If there was such need, what 3 first diagnostic studies  
should be made? Both in nonspecialized external offices, and in a  
specialized cardiological high-complexity center?

Dr. Silvia Priori, from Italy answers

- In any case of unexplained sudden cardiac death especially at young  
age an evaluation of family members is reasonable.
First important thing in my view is to perform a careful collection  
of family history with construction of a family tree. Questioning  
family members for occurrences of sudden death (especially death  
associated with stress, exercise and emotion or death during sleep);  
questioning of familial occurrence of for syncope and arrhythmias.  
Useful to keep in mind that epilepsy is often a diagnosis in pts with  
repeated syncope and seizure like manifestation: therefore it may be  
useful to distinguish between typical epilepsy responsive to therapy  
versus atypical epilepsy non responsive to therapy. The latter may in  
fact be a misdiagnosis for an arrhythmogenic syndrome).
In term of investigation of family members first step is an ECG/ 
holter searching for diagnosis such as Brugada, long QT, and ECG  
signs of cardiomyopathies. An echo is indicated for identification of  
right ventricular cardiomyopathy, hypertrophic cardiomyopathy and  
dilated cardiomyopathy.
If SCD occurred during physical exercise and/or if any family member  
experienced syncope during physical activity an exercise stress test  
may also be performed.
To summarize: careful collection of family history plus a full non  
invasive evaluation of close relatives of the SCD victim (brother and  
sisters and offspring) is the approach used at our clinic for  
inherited arrhythmogenic diseases. Based on results of the clinical  
evaluation above the need/value of genetic analysis will be defined.
Silvia G Priori
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