Long-term prognosis of women with Brugada syndrome and electrophysiological study.

BACKGROUND: A male predominance in Brugada syndrome (BrS) has been widely reported, but scarce information on female patients with BrS is available. OBJECTIVE: The purpose of this study was to investigate the clinical characteristics and long-term prognosis of women with BrS. METHODS: A multicenter retrospective study of patients diagnosed with BrS and previous electrophysiological study (EPS) was performed. RESULTS: Among 770 patients, 177 (23%) were female. At presentation, 150 (84.7%) were asymptomatic. Females presented less frequently with a type 1 electrocardiographic pattern (30.5% vs 55.0%; P <.001), had a higher rate of family history of sudden cardiac death (49.7% vs 29.8%; P <.001), and had less sustained ventricular arrhythmias (VAs) on EPS (8.5% vs 15.1%; P = .009). Genetic testing was performed in 79 females (45% of the sample) and was positive in 34 (19%). An implantable cardioverter-defibrillator was inserted in 48 females (27.1%). During mean (± SD) follow-up of 122.17 ± 57.28 months, 5 females (2.8%) experienced a cardiovascular event compared to 42 males (7.1%; P = .04). On multivariable analysis, a positive genetic test (18.71; 95% confidence interval [CI] 1.82-192.53; P = .01) and atrial fibrillation (odds ratio 21.12; 95% CI 1.27-350.85; P = .03) were predictive of arrhythmic events, whereas VAs on EPS (neither with 1 or 2 extrastimuli nor 3 extrastimuli) were not. CONCLUSION: Women with BrS represent a minor fraction among patients with BrS, and although their rate of events is low, they do not constitute a risk-free group. Neither clinical risk factors nor EPS predicts future arrhythmic events. Only atrial fibrillation and positive genetic test were identified as risk factors for future arrhythmic events.

Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study).

Unexplained cardiac arrest (UCA) can be caused by low-penetrance genetic disorders. The aim of this cross-sectional study is to assess the usefulness of a new diagnostic protocol: Thirty-five patients were recruited from 9 Spanish centers. Electrocardiogram, echocardiogram, and coronary catheterization were used to rule out electrical or structural heart disease in all subjects. Patients underwent pharmacologic tests with epinephrine and flecainide, followed by assessment of family members using electrocardiogram and echocardiogram, and next-generation genetic sequencing to analyze 126 genes if all the other test results were negative. A firm diagnosis of channelopathy required phenotypic proof of the condition in unmasking tests, the presence of a pathogenic variant consistent with the phenotype observed, and/or co-segregation of the mutation found in a family member's phenotype. A firm diagnosis was made in 18 cases. The diagnoses were 7 Brugada syndrome, 5 catecholaminergic polymorphic ventricular tachycardia, 3 long QT syndrome, 2 early repolarization syndrome, and 1 short QT syndrome. Pharmacologic testing was the most frequent method of diagnosis. In 5 cases, the diagnosis was made based on positive genetic testing without phenotypic alterations. In conclusion, this sequential diagnostic protocol allows diagnoses to be made in approximately half of the UCA cases. These diagnoses are low clinical penetrance channelopathies. If interpreted carefully, genetic tests can be a useful tool for diagnosing UCA without a phenotype.

Predictors of renal dysfunction at 1 year in heart transplant patients.

BACKGROUND: Renal dysfunction (RD) is one of the most significant long-term complications of heart transplantation (HT). Although RD is generally attributed to a direct effect of calcineurin inhibitors, it is more probable that multiple factors contribute to its development. The aim of this study was to search for predictor variables of RD at 1 year after HT. METHODS: Three hundred sixteen consecutive HT patients were evaluated. The relationship between RD at 1 year (glomerular filtration rate <60 mL/min/1.73 m2), and pretransplant and 1-year follow-up variables was analyzed. RESULTS: At 1 year following HT, 181 patients (57%) had a glomerular filtration rate of <60 mL/min/1.73 m2. On multivariate analysis, pretransplant serum creatinine values (odds ratio [OR] 5.106, 95% confidence interval [CI]: 2.35-11.09, P=0.0001) and cytomegalovirus (CMV) infection (OR 2.04, 95% CI: 1.08-3.83, P=0.027) were significant predictors of RD, and diabetes mellitus was almost significant (OR 1.65, 95% CI: 0.98-2.76, P=0.055). Variables protective against RD were induction therapy with interleukin-2 receptor antagonists versus muromonab-CD3 (OR 0.389, 95% CI: 0.24-0.61, P=0.0001), maintenance treatment with mycophenolate mofetil versus azathioprine (OR 0.42, 95% CI: 0.26-0.68, P=0.0001), and CMV antiviral prophylaxis (OR 0.38, 95% CI: 0.17-0.68, P=0.021). CONCLUSIONS: Fifty-seven percent of HT patients had RD at 1 year posttransplant. RD was associated with pretransplant serum creatinine values, CMV infection, and diabetes mellitus. Induction with interleukin-2 receptor antagonists, treatment with mycophenolate mofetil, and antiviral prophylaxis for CMV infection all helped maintain renal function in this cohort of HT patients.