Long Term Follow-Up in a Patient with Arrhythmogenic Right Ventricular Dysplasia

This case report describes eight years of follow-up in a young adult with arrhythmogenic right ventricular dysplasia (ARVD). He presented with exertional palpitations, symmetric T wave inversions and possible epsilon waves in the right precordial leads on electrocardiogram (EKG), raising suspicion for ARVD. Transthoracic echocardiography revealed a dilated and excessively trabeculated right ventricle (RV), and cardiac magnetic resonance imaging showed fatty infiltration of the RV myocardium. These findings established the diagnosis of ARVD, and given his palpitations, a defibrillator was implanted. Over the next years, he had several episodes of ventricular tachycardia requiring therapy from his device, despite escalating medical therapy. He therefore underwent radiofrequency catheter ablation for the VT, which successfully controlled the VT.

A clinical case of arrhythmogenic right ventricular dysplasia

Arhythmogenic right ventricular dysplasia (ADP) refers to hereditary myocardial diseases, in which there are structural and functional disorders in the right ventricular myocardium, causing rhythm and conduction disorders, including fatal ventricular arrhythmias. ADP is considered one of the most common causes of sudden cardiac death in young people and people who are engaged in sports. However, in practice, there are cases of this disease in people of an older age category. Diagnosis of ADP is still difficult due to the possible long-term asymptomatic course of the disease. The article describes a clinical case of ADP in a 48-year-old man.

Combination of Arrhythmogenic Right Ventricular Dysplasia with Left Ventricular Non-Compaction as a Special Form of Cardiomyopathy: Clinic, Diagnostics, Genetic, Natural Course

Background. A few cases of combination of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC) with left ventricular noncompaction (LVNC) have been described. Aims to study the genetics, diagnostical features and clinical course of the combination of ARVC with LVNC. Methods. 58 patients with ARVC diagnosis (26 men; mean age 39.1 14.2 years; mean follow-up period 21.5 [6; 60] months) and 125 patients with LVNC (74 men; mean age 46.4 15.1 years; mean follow-up period 14 [3; 40] months). All patients underwent electrocardiogram (ECG), echocardiography, 24-h ECG monitoring. Heart MRI was performed in 53 (91.4%) patients with ARVC and 60 (48%) with LVNC, heart CT in 18 (31%) patients with ARVC and 89 (71.2%) with LVNC. For all patients with combination of ARVC and LVNC DNA-diagnostic was performed using both ARVC (PKP2, DSG2, DSP, DSC2, JUP, TMEM43, TGFB3, PLN, LMNA, DES, CTTNA3, EMD, SCN5A, LDB3, CRYAB, FLNC) and LVNC (MYH7, MYBPC3, TAZ, TPM1, LDB3, MYL2, MYL3, ACTC1, TNNT2, TNI3) gene panels. Results. Combination of ARVC and LVNC was found in 9 patients (15.5% of patients form ARVC cohort and 7.2% from LVNC cohort). These patients were distinguished from patients with isolated ARVC or LVNC by aggressive ventricular arrhythmias (frequent premature ventricular beats, sustained ventricular tachycardia, significantly worse antiarrhythmic therapy effect, appropriate shocks of implanted cardioverter-defibrillators (ICD) in all patients with ICD). Patients with combination of ARVC + LVNC were also distinguished from patients with isolated LVNC by the dilatation of RV, low QRS voltage on ECG, presence of AV block, absence of signs of LV hypertrophy on ECG. LV dilatation with reduction of its ejection fraction distinguished patients with mixed cardiomyopathy from patients with isolated ARVC. Potentially pathogenic variants (IVV classes of pathogenicity) and variants of unclear clinical significance (III class of pathogenicity) were found in both desmosomal and non-desmosomal genes in 78% of patients, including 3 (33%) in DSP gene. Conclusions. The combination of ARVC and LVNC can be caused by mutations in both desmosomal and non-desmosomal genes and has typical features: aggressive, resistant ventricular rhythm abnormalities leading to appropriate ICD shocks and a high risk of sudden cardiac death.