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Genetic pre-participation screening in selected athletes: a new tool for the prevention of sudden cardiac death?

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EuroMEdLab 2013

W060

GENETIC PRE-PARTICIPATION SCREENING IN SELECTED ATHLETES: A NEW TOOL FOR THE PREVENTION OF SUDDEN CARDIAC DEATH?

G. Frisso(1), N. Detta(2), C. Mazzaccara(1), A. Cordella(1), G. Limongelli(3), S. Romano(4), M. Penco(4), A. Pelliccia(5), R.

Calabro(3), F. Salvatore(6)

1Department of Biochemistry and Medical Biotechnologies, University of Naples Federico II, Naples, Italy and CEINGEB2

iotecnologie Avanzate, Naples, Italy 3CEINGE-Biotecnologie Avanzate, Naples, Italy Cardiomyopathy and Inherited Heart Disease Clinic, UOC C4 ardiology, Second University of Naples, Naples, Italy Cardiology, Department of Internal Medicine and Public

H5 ealth, University of L’Aquila, Italy 6Institute of Sport Medicine and Science, CONI, Rome, Italy CEINGE-Biotecnologie Avanzate, Naples, Italy

and IRCCSFondazione SDN, Naples, Italy

Background: Sudden cardiac death (SCD) of athletes is a topical issue. “Borderline cardiac abnormalities”, which occur in ~2% of elite male athletes, may result in SCD, which may have a genetic base. Genetic analysis may help identify pathological cardiac abnormalities. We performed phenotype-guided genetic analysis in athletes who, pre-participation, showed ECG and/or echo “borderline” abnormalities, to discriminate subjects at a greater risk of SCD.

Methods: We studied 24 elite athletes referred by the National Federation of Olympic sports; and 25 subjects seeking eligibility to practice agonistic sport referred by the Osservatorio Epidemiologico della Medicina dello Sport della Regione Campania. Inclusion criteria: a) ECG repolarization borderline abnormalities; b) benign ventricular arrhythmias; c) left ventricular wall thickness in the grey zone of physiology versus pathology (max wall thickness 12-15 mm in females; 13-16 mm in males). Based on the suspected phenotype, we screened subjects for the LMNA gene, for 8 sarcomeric genes, 5 desmosomal genes, and cardiac calcium, sodium and potassium channel disease genes.

Results: Genetic analysis was completed in 37/49 athletes, 22 competitive and 27 non-competitive athletes, showing “borderline” clinical markers suggestive of hypertrophic cardiomyopathy (HCM,n. 24), dilated cardiomyopathy (n. 4), arrhythmogenic right ventricular dysplasia/cathecholaminergic polymorphic ventricular tachycardia (ARVD/CPVT, n. 11), long QT syndrome (LQTS, n. 4), sick sinus syndrome (SSS, n. 5), Brugada syndrome (BrS, n. 1). We identifyed 11 mutations in 9 athletes (an ARVD athlete was compound heterozygote for the PKP2 gene and an HCM athlete was double heterozygote for the MYBPC3 and TNNT2 genes): 3 known mutations related to LQTS, HCM and ARVD, respectively, and 8 novel mutations, located in the SCN5A, RyR2, PKP2, MYBPC3 and ACTC1 genes. The new mutations were absent in ~800 normal chromosomes and were predicted “probably damaging” by in silico analysis. Patch clamp analysis in channelopathies indicated for some mutation abnormal biophysical behavior of the corresponding mutant protein.

Conclusion: Genetic analysis may help distinguish between physiology and pathology in athletes with clinically suspected heart disease.

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