Case report patient B
This otherwise healthy female patient underwent RFA at the age of 39 years for atrial tachycardia from the right atrial free wall. At the time she had a normal echocardiogram with normale EF, morphology and size of both ventricles and mild biatrial enlargement and mitral regurgitation. At the age of 46 years a pacemaker was implanted for second and third degree Atrioventricular (AV) Block. One year later she had atrial flutter and underwent successful RFA. At the time prolonged atrial conduction times were noted with a transisthmus interval of 320msec and a split potential of 188msec. At the age of 48 the patient presented with incessant pacemaker mediated tachycardia in the presence of complete anterograde AV Block. Therefore, the retrogradly conducting slow pathway had to be ablated.
At the age of 51years the patient had a TIA. Because of symptomatic atypical atrial flutter an EP procedure with AcQmap® Acutus Medical was performed. During contrast injection into the left superior pulmonary vein (LSPV) and abnormal connection to the brachiocephalic vein was found (Figure 3), which was closed later with an Amplatzer cardiac plug.
The pulmonary veins had no activity during an irregular atrial flutter of varying cycle length between 230 and 260ms (figure 3 A). Beat to beat atrial mapping with the Acutus system showed a trigger of about 0.5cm diameter at the anteroseptal left atrium (Figure 3 upper panel). During RFA conversion to sinus rhythm was observed (Figure 3B). No further atrial arrhythmia could be induced with pacing down to 250ms cycle length (Figure 3C). During follow up of 1.5 years the patient remained free of relevant atrial arrhythmia (Atrial fibrillation burden <0.7% in the pacemaker interrogation). An upgrade to an ICD was done in 2021 after pacemaker battery depletion, because the Lamin Mutation hat been diagnosed.
Genetic Testing .
Because of the positive family history genetic testing was performed, which revealed a heterozygotous mutation in the Exon 6 of the LMNA gene c.1129C>T(p.Arg377Cys) rs397517889 in the sisters and in the two cousins with DCM. The same mutation was found in an asymptomatic 18-year-old son of Patient A with nonsustained VT. For primary prevention he underwent prophylactic ICD implantation.