Unexpected genetic mutations in highly trained athletes with electrocardiographic patterns effort related

(Unerwartete genetische Mutationen bei hochtrainierten Athleten mit auffälligen belastungsbezogenen elektrokardiographischen Mustern)

Introduction: Electrocardiograms (ECG) in elite endurance athletes show sometime bizarre patterns suggestive of inherited channelopathies (Brugada syndrome, long QT syndromes) responsible for unexpected sudden cardiac death (SCD).Apparently effort related, these abnormalities could be true manifestations of electrical heart disease.The athletes, most of them without symptoms, have normal physical exams and no history of dramatic cardiac events. Other diagnostic tests are required, including specific genetic analysis. Method: Preparticipation screening.Endurance sports (canoeing, rowing)-347 athletes (190Seniors-101 M, 89 F;157Juniors -111M, 46F mean age 20y.o). Group (control)-505 normal aged-matched sedentary subjects (280M, 225F, mean age 21y.o).Standard ECG with high right precordial leads (V1-V3). ECG patterns in highly trained endurance athletes were classified.(1,2).Echocardiography: Two-dimensional, Doppler/ TDI. Genetic:227 athletes (114 Seniors, 113 Juniors), 35 normals selected. The ECG inclusion criteria for genetic study: Distinctly abnormal (inverted Twaves>2mm). Bifid T waves with distinct peaks and prolonged QTc. Brugada type 2/borderline Brugada. Long QT. Genomic DNA(200ìl blood).SCN5A, KCN mutations studies(MLPA,MRC Holland).SALSA P108 for SCN5A; SALSA P114 for KCNQ1, KCNH2, KCNE1, KCNE2. Results: Seniors:RSR`(V1-V3) in 45(23.68%), 5 of them with Brugada type 2. V1-V3 ST convexity and negative T wave, 34 (17.89%). Brugada type 1, 1(0.52%) with no SCN5A abnormalities. Epsilon waves 3(1.57%) and no gene mutations in specific tests.Juniors:Precordial V1-V3 with ST elevation 39(24.84%), 9(5.73%) of which with borderline Brugada sign; gene duplications: KCN (n=1),SCN5A (n=1). Bifid T wave, 39(24.84%),5 of which with QTc(0.48`-0.56`) and KCN gene mutations so, 7 athletes with gene abnormalities. Discusion: Asymptomatic endurance athletes have sometime uncommon and training-unrelated ECG patterns, suggestive for electrical heart diseases responsable of SCD.The confirmation of these diseases,through specific tests including the genetic analysis is mandatory. In this study, the majority of athletes have ECG abnormalities confirmed to be training related.In few athletes the ECG abnormalities were associated with gene mutations. The preparticipation screening and follow-up are mandatory for the identification of athletes with SCD risk diseases.
© Copyright 2014 19th Annual Congress of the European College of Sport Science (ECSS), Amsterdam, 2. - 5. July 2014. Veröffentlicht von VU University Amsterdam. Alle Rechte vorbehalten.

Bibliographische Detailangaben
Schlagworte:
Notationen:Biowissenschaften und Sportmedizin
Veröffentlicht in:19th Annual Congress of the European College of Sport Science (ECSS), Amsterdam, 2. - 5. July 2014
Sprache:Englisch
Veröffentlicht: Amsterdam VU University Amsterdam 2014
Seiten:687
Dokumentenarten:Kongressband, Tagungsbericht
Level:hoch