Diagnostic yield and predictive value on left ventricular remodelling of genetic testing in dilated cardiomyopathy.

AIMS: We assessed the diagnostic yield of genetic testing and the relationship of left ventricular (LV) reverse remodelling (LVRR) with the presence of DNA pathogenic (P) or likely pathogenic (LP) variants in patients with dilated cardiomyopathy (DCM). METHODS AND RESULTS: From 680 outpatients followed at the Heart Failure Outpatient Clinic of our institution, we selected subjects with a diagnosis of DCM as defined by LV ejection fraction (LVEF) ≤40% and LV dilatation not explained by coronary artery disease or other causes. All patients were offered genetic investigation of 42 disease-associated DCM genes with next-generation sequencing. Seventy patients fulfilled the definition of DCM and 66 underwent genetic investigation. We identified 18 P/LP variants in 16 patients, with a diagnostic yield of 24%. The most common variants were truncating TTN variants (n = 7), followed by LMNA (n = 3), cytoskeleton Z-disc (n = 3), ion channel (n = 2), motor sarcomeric (n = 2), and desmosomal (n = 1) genes. After a median follow-up of 53 months (inter-quartile range 20-111), patients without P/LP variants exhibited higher systolic and diastolic blood pressure, lower plasma brain natriuretic peptide levels, and a larger extent of LVRR, as reflected by the increase in LVEF (+14% vs. +1%, P = 0.0008) and decrease in indexed LV end-diastolic diameter (-6.5 vs. -2 mm/m2 , P = 0.03) compared with patients with P/LP variants. CONCLUSIONS: Our results confirm the high diagnostic yield of genetic testing in selected DCM patients and suggest that identification of P/LP variants in DCM portends poorer LVRR in response to guideline-directed medical therapy.

Usefulness of transcranial color Doppler ultrasonography in aortic arch surgery.

BACKGROUND: Hypothermia in combination with selective cerebral perfusion is a well-documented technique for cerebral protection during aortic arch surgery. However, such complex surgery is still accompanied by a considerable incidence of neurological events. AIM: This study describes the advantages of transcranial color Doppler ultrasound (TCDU) as a noninvasive real-time method for intraoperative monitoring of cerebral blood flow. METHOD: Between 1 January 2010 and 31 December 2011, 29 consecutive patients underwent transcranial echo color Doppler (TCDU) monitoring during hypothermic circulatory arrest. RESULTS AND CONCLUSIONS: TCDU was easily applied and provided continuous information on cerebral perfusion in all patients studied. Early detection of perfusion abnormalities during selective cerebral perfusion guided surgeon and anesthesiologist to research for causes and correct them, avoiding severe neurological consequences. Moreover, transcranial echo color Doppler allowed us to optimize anterograde and retrograde cerebral perfusion rate, avoiding hyper-perfusion or hypo-perfusion phenomena during cardiac arrest.

Predictors of atrial fibrillation after off-pump coronary artery bypass graft surgery.

OBJECTIVE: Atrial fibrillation is the most common complication after coronary artery bypass graft surgery. This arrhythmia may lead to hemodynamic compromise, prolonged hospitalization, and increased risk for cerebral thromboembolism. Older age is the only variable consistently associated with the development of postoperative atrial fibrillation; however, no strong predictive model exists. The purpose of this study was to identify perioperative characteristics associated with new-onset atrial fibrillation in patients undergoing off-pump coronary artery bypass grafting. DESIGN: Prospective, observational. SETTING: University tertiary care hospital. PARTICIPANTS: One hundred sixty consecutive patients undergoing off-pump coronary artery bypass grafting. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Incidence of postoperative atrial fibrillation was the major outcome. Atrial fibrillation occurred in 33 patients (20.6%). Multivariate analysis identified reintervention (odds ratio 26.8), revascularization of the ramus medianus (odds ratio 3.9), and age (odds ratio 1.069 per year) as the only independent predictors of postoperative atrial fibrillation. All patients were in sinus rhythm at hospital discharge. One hospital death was noted. CONCLUSIONS: Despite the less invasive approach, the incidence of postoperative atrial fibrillation is high after off-pump coronary artery bypass grafting. Older age, grafting of the ramus medianus, and a redo operation were predictors of new-onset postoperative atrial fibrillation. It is possible that left atrial stretching with heart dislocation during revascularization of the lateral wall could lead to postoperative atrial fibrillation.