A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study.

BACKGROUND: Homozygous truncating mutations located in the C-terminal region of the desmoplakin gene (DSP) are known to mainly cause Carvajal syndrome, an autosomal recessive syndromic form of arrhythmogenic cardiomyopathy with an extra-cardiac cutaneous phenotype. CASE PRESENTATION: Here we describe a female proband with a documented arrhythmogenic left ventricular cardiomyopathy and a syncopal episode at the age of 13, who was found homozygous for the novel DSP variant: NM_004415.4:c.8586delC, p.(Ser2863Hisfs*20) at the extreme C-terminal region of the protein, just 8 amino acids upstream the stop codon. She did not have any of the typical dermatological symptoms that characterize Carvajal syndrome. Her brother had died suddenly at the age of 18 during exercise and was found homozygous for the same variant at the post-mortem, while their parents were heterozygous. The region of origin of both parents was the same geographic area of Greece, but they were not aware of any common ancestor. Detailed clinical examination revealed that the mother displayed a mild arrhythmic phenotype, while the father was asymptomatic. CONCLUSION: These observations pinpoint to a significant functional role of the extreme C-terminal tail of the protein.

Catheter ablation vs electrophysiologically guided thoracoscopic surgical ablation in long-standing persistent atrial fibrillation: The CASA-AF Study.

BACKGROUND: Catheter ablation (CA) outcomes for long-standing persistent atrial fibrillation (LSPAF) remain suboptimal. Thoracoscopic surgical ablation (SA) provides an alternative approach in this difficult to treat cohort. OBJECTIVE: To compare electrophysiological (EP) guided thoracoscopic SA with percutaneous CA as the first-line strategy in the treatment of LSPAF. METHODS: Fifty-one patients with de novo symptomatic LSPAF were recruited. Twenty-six patients underwent electrophysiologically guided thoracoscopic SA. Conduction block was tested for all lesions intraoperatively by an independent electrophysiologist. In the CA group, 25 consecutive patients underwent stepwise left atrial (LA) ablation. The primary end point was single-procedure freedom from atrial fibrillation (AF) and atrial tachycardia (AT) lasting >30 seconds without antiarrhythmic drugs at 12 months. RESULTS: Single- and multiprocedure freedom from AF/AT was higher in the SA group than in the CA group: 19 of 26 patients (73%) vs 8 of 25 patients (32%) (P = .003) and 20 of 26 patients (77%) vs 15 of 25 patients (60%) (P = .19), respectively. Testing of the SA lesion set by an electrophysiologist increased the success rate in achieving acute conduction block by 19%. In the SA group, complications were experienced by 7 of 26 patients (27%) vs 2 of 25 patients (8%) in the CA group (P = .07). CONCLUSION: In LSPAF, meticulous electrophysiologically guided thoracoscopic SA as a first-line strategy may provide excellent single-procedure success rates as compared with those of CA, but there is an increased up-front risk of nonfatal complications.

Challenging Occam's Razor: An Unusual Combination of Sarcoidosis and Amyloidosis. The Value of Cardiac Magnetic Resonance Imaging in Infiltrative Cardiomyopathies.

We describe the case of a 66-year old woman with the extremely rare combination of sarcoidosis and amyloidosis (light chain) and the important role of cardiovascular magnetic resonance imaging to differentiate between these 2 infiltrative diseases. Myocardial characterization with T1 mapping can improve disease detection, especially in overlap cases, and possibly obviate the need for cardiac biopsy.

Right atrial myxoma: echocardiographic appearance.

A 67-year-old asymptomatic male was admitted for evaluation of his arterial hypertension. The routine echocardiographic study revealed a large tumour in the dilated right atrium. The mass appeared to arise from the posterior wall of the right atrium. After infusion of a contrast agent, the mass appeared to fill with the contrast agent, ruling out the possibility of the mass being a clot. Transesophageal study revealed a round mass arising from the posterior right atrial wall just adjacent to the extrusion of the superior vena cava. The patient subsequently underwent cardiac surgery and a cardiac tumour was excised that proved to be a cardiac myxoma. In this case we present echocardiographic images and the macro- and microscopic view of the right atrial myxoma.