ABNORMALITIES IN HIGHLY TRAINED ATHLETES IN RELATION TO THE GENETIC
STUDY RELATED TO CAUSES OF UNEXPECTED SUDDEN CARDIAC DEATH
Macarie C, Dermengiu
D, Ioana Stoian, Ligia Barbarii, Ileana Tepes Piser, Ghioncel O,
Carp A, Stoian. I
Electrocardiograms in elite endurance athletes shows sometimes bizarre
patterns suggestive of inherited channelopathies and cardiomyopathies
responsable for unexpected sudden cardiac death. Among other methods,
genetic analyses are required for correct diagnosis.
correlate 12-lead electrocardiographic patterns suggestive of inherited
channelopathies and cardiomyopathies to specific genetic analyses.
study (2004-2006) of screening 12-lead ECG tracings in standard
position and higher intercostal spaces V1 to V3 precordial leads,
performed in athletes and normal sedentary subjects aged match. Genetic
analyses of subjects with ECG abnormalities suggesive of inherited
channelopathies and cardiomyopathies. Setting: All cardiologic exams
and electrocardiograms were performed at National Institute of
Cardiovascular Diseases „Prof Dr CC
Iliescu”(Bucharest,Romania).Genetic study were done at
National Institute of Forensic Medicine ”Mina
Minovici” (Bucharest,Romania). Participants: 347 elite
endurance athletes (seniors190,juniors157), mean age of 20; 200
subjects mean age of 21, belonging to the control group of 505 normal
Seniors. RSR’(V1 to V3) pattern, in 45, 5 of them with
questionable Brugada signs.Tipically Brugada1 sign in one. 3 epsilon
waves, arrhythmic right ventricular cardiomypathy MRI confirmed in one.
ST-segment elevation myocardial injury like in V1 to V3 precordial
leads in 34 athletes.Genetic analyses - no gene mutations. Juniors. 5
athletes with abnormal T waves (bifid, n=4; inverted>2 mm ,n=1)
and prolonged QTc (0.48”- 0.56”) had mutations on
KCN genes. 2 athletes with questionable Brugada signs had mutations on
KCN and SCN5A genes respectevly.
QRS, ST-T patterns suggestive of abnormal impulse conduction in the
right ventricle, including the right outflow tract, associated in some
cases to prolonged QTc interval were observed in highly trained
endurance athletes.The genetic analyses, negative in most athletes,
identified surprising mutations in SCN5A and KCN genes in some.