| Popis: |
Arrhythmogenic cardiomyopathy (arrhythmogenic right ventricular dysplasia) is a hereditary heart muscle disease characterized pathologically by dystrophy and fibrofatty replacement of the right ventricular myocardium, consequently causing ventricle dysfunction and life-threatening cardiac arrhythmias. The right ventricle is predominately affected, but approximately 70% of hearts studied during autopsy reveal left ventricle involvement. Positive family history is seen in 30% cases. Autosomal dominant or autosomal recessive pattern of inheritance are known, latter as part of cardiocutaneous syndromes. The mean age of diagnosis is 30 years, clinical manifestation is rare before puberty. Following hypertrophic cardiomyopathy, it is considered to be the leading cause of sudden cardiac death in adolescency, especially among athletes. Palpitations, dizziness and syncope can be symptoms of the disease, though sudden cardiac arrest may be the first clinical presentation. Diagnosis is made by combining medical history, ECG, morphological abnormalites (echocardiography and/or cardiac MRI), endomyocardial biopsy and genetic tests. Standardized diagnostic criteria (major and minor), revised in 2010 were made to increase sensitivity and specificity. Treatment options are combination of life-style modification, antiarrhythmic drugs, catheter ablation and ICD implantation. Here we are illustrating a 15-year old boy who presented with dizziness and syncope. Cardiac diagnostic workup was performed, revealing arrhythmogenic cardiomyopathy. Inverted T waves in V1-V4 leads with epsilon waves and premature ventricular contractions with LBBB were noted in standard ECG. During the 24-hours holter ECG sustained ventricular tachycardia was registered. Echocardiography and cardiac MRI revealed hypertrabeculated right ventricle with regional dyskinesia and akinesia, dyssynchronous right ventricle contractions and additionally fibrous replacement of the right myocardial free wall. ICD was implanted after inadequate antiarrhythmic drugs response. Conclusion: cardiac diagnostic workup should be performed as a severe and progressive heart muscle disease can be the underlying cause od dizziness and syncope. |
