Arrhythmogenic cardiomyopathy – double mutation identified in a young athlete

Introduction: Electrocardiographical (EKG) periodic evaluation of athletes is necessary in order to detect pathological changes which can lead to early diagnosis of diseases at risk of developing sudden cardiac death (SCD), arrhythmogenic right ventricular cardiomyo-pathy (ARVC) being one of those instances. Moreover, pediatric patients exhibit certain prognostic and debut features of the disease, which need to be taken into account.

Case presentation: Sixteen year old male athlete is re-ferred for evaluation in our Clinic as multiple modi-fied EKG tracings have been observed during the past few months. Electric abnormalities are characterized by negative T waves in leads V1-V4 and Epsilon wa-ves in V1-V3. 24h-ECG Holter monitoring identifies 1900 ventricular ectopic beats. Transthoracic 2D echo-cardiography reveals right ventricle (RV) with upper-limit diameters, and free wall longitudinal strain curves have slightly reduced amplitude. Cardiac magnetic resonance (CMR) diagnoses wall motion abnormali-ties in the RV free and diaphragmatic walls, alongside ejection fraction of 44%. EKG abnormalities raise the suspicion of ARVC in a young athlete, echocardiography reveals supplementary elements and CMR confirms the structural and functional alterations of the RV, thus establishing the final diagnosis based on the 2010 Task Force Criteria. Genetic testing of index case is performed and the result shows presence of 2 mutations in desmosomal genes – pathogenic mutation c.1034+1G>C in plakophilin 2 (PKP2) structure and a variant of unknown significance in desmoplakin (DSP). Afterwards, cascade familiy genetic testing was performed. Father and sister of the index case were also positive for the same pathogenic variant in PKP2, while the mother was positive for the variant of unknown sig-nificance (all without pathological abnormalities both on EKG and echocardiography). Of note, pedigree re-veals SCD of 2 paternal cousins.

Conclusions: Performing regular EKG in the screening of athletes is essential for early detection of certain diseases with SCD potential. The association of 2 genetic mutations in the index case is particular, and may explain the early electric and structural manifestations of ARVC which was not confirmed in the father and sister of the patient, given the fact that they are as well carriers of the same mutation.

ISSN – online: 2734 – 6382
ISSN-L 1220-658X
ISSN – print: 1220-658X
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CODE: 379
CME Credits: 10 (Romanian College of Physicians)