Double de novo mutations in dilated cardiomyopathy with cardiac arrest.

Here we report the identification of two novel mutations in a previously asymptomatic young man who suffered an out-of-hospital sudden cardiac arrest. During following evaluation, diagnosis of early stage dilated cardiomyopathy was established, while electrocardiogram monitoring showed frequent complex ventricular arrhythmias, incomplete right bundle branch block and prolonged QT duration. No reversible causes explaining the clinical presentation were established and an automatic implantable cardioverter defibrillator was therefore implanted. Heterozygous mutations in human protein coding genes NKX2-5 and RBM20 are associated with a wide array of pathological phenotypes some of which are sudden cardiac death, unexplained syncope and either combined or isolated congenital heart diseases such as dilated cardiomyopathy.

Prolonged QT and myocardium recovery after primary PCI: a cMRI study.

BACKGROUND: The presence of viable stunned myocardium recovering after primary angioplasty is not easy to identify in the early phase of acute myocardial infarction (AMI) by noninvasive bed-side methods. We therefore aimed to assess whether a simple electrocardiogram parameter may be of help in identifying the presence of stunned viable myocardium recovering after reperfusion with primary angioplasty. MATERIALS AND METHODS: A total of 14 consecutive patients with ST-elevation AMI (STEMI) were enrolled in the study and underwent QT duration assessment after admission: the difference between QT corrected (QTc) in the ischaemic areas and QTc values in nonischaemic areas was therefore calculated and compared with the presence and the extension of viable stunned myocardium, assessed by comparing akinetic/dyskinetic areas at admission echocardiography with akinetic/dyskinetic areas and extension of scar at 6-month cardiac magnetic resonance imaging (cMRI). RESULTS: In subjects with viable recovering myocardium, 75% had a QTc max > 440 ms (vs. 17%, P = 0·03); higher differential QTc values and smaller scar areas were found (33 ms vs. -17 ms, 14% vs. 27%, P = 0·03, 0·06 respectively). Differential QTc values > 0 were able to identify the presence of viable myocardium with an odds ratio of 35 (P < 0·05, sensitivity 88%, specificity 83%, positive predictive power 88%, negative predictive power of 83%). Differential QTc values were related to the extension of viable recovering myocardium (P < 0·001). CONCLUSION: Viable myocardium recovering after primary angioplasty in STEMI may be predicted by the presence of increased QTc values in ischaemic areas in comparison with nonischaemic areas.

QT-interval evaluation in primary percutaneous coronary intervention of ST-segment elevation myocardial infarction for prediction of myocardial salvage index.

Assessing the efficacy of revascularization therapy in patients with ST-segment elevation myocardial infarction (STEMI) is extremely important in order to guide subsequent management and assess prognosis. We aimed to determine the relationship between corrected QT-interval (QTc) changes on standard sequential ECG and myocardial salvage index in anterior STEMI patients after successful primary percutaneous coronary intervention. Fifty anterior STEMI patients treated by primary percutaneous coronary intervention underwent quantitative ECG analysis and cardiac magnetic resonance. For each patient the difference (ΔQTc) between the QTc of ischemic myocardium (maximum QTc in anterior leads) versus remote myocardium (minimum QTc in inferior leads) during the first six days after STEMI was measured. The QTc in anterior leads was significantly longer than QTc in inferior leads (p<0.0001). At multivariate analysis, ΔQTC and peak troponin I were the only independent predictors for late gadolium enhancement while ΔQTc and left ventricular ejection fraction were independent predictors of myocardial salvage index <60%. The receiver operative curve of ΔQTc showed an area under the curve of 0.77 to predict a myocardial salvage index <0.6. In conclusion, in a subset of patients with a first occurrence of early revascularized anterior STEMI, ΔQTc is inversely correlated with CMR-derived myocardial salvage index and may represent a useful parameter for assessing efficacy of reperfusion therapy.

Early recurrence of atrial fibrillation after catheter ablation with left atrial fibrosis identified at cardiac magnetic resonance by late gadolinium enhancement.

In patients with atrial fibrillation (AF), extensive atrial tissue fibrosis identified by delayed enhancement magnetic resonance imaging has been associated with early recurrence of AF after catheter ablation. We present a case of a patient with extensive atrial fibrosis and AF recurrence.The study of late gadolinium enhancement with cardiac magnetic resonance imaging in patients with AF could be a valuable noninvasive tool for the selection of patients suitable for successful catheter ablation.