Risultati per: Svelato il tallone d’Achille della malattia di Parkinson

Bimbe calabresi di 5 anni. Per una è stato possibile preservare l’udito

Circulation, Volume 148, Issue Suppl_1, Page A12838-A12838, November 6, 2023. Background:Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the most common mitochondrial disorders. Cardiovascular involvement has been reported in up to 30% of MELAS patients with varying clinical presentations from non-specific cardiogenic abnormalities to conduction abnormalities, cardiomyopathies, heart failure, fatal arrhythmias and cardiac death. Although conduction defects are a known complication, the frequency of Wolff-Parkinson-White (WPW) Syndrome among MELAS patients and mutations associated with MELAS is uncertain, and their association with cardiomyopathy and treatment outcomes have rarely been reported.Methods:A retrospective chart review of 50 MELAS patients from January 2007 to December 2022 from the Neuroscience Institute at University of Texas Houston was conducted. Medical histories, genetic testing, electrocardiograms, echocardiograms, and electrophysiology studies were reviewed.Results:43 patients were included (mean age 23.8, median age 18.5, range 2-58). Eight of 43 patients with MELAS (20 %), inclusive of one of 3 patients with m.4317A >G (33.3%) and seven of 40 patients with m.3243A >G variants had electrocardiographic findings consistent with WPW. Other conduction abnormalities were noted in ten of 20 patients (50%) with m.3243A >G with neurological involvement and six of 20 patients (30%) with m.3243A >G mutation without strokes. Four patients required electrophysiology studies with ablation (mean age 8.5, range 7-10), one for inappropriate sinus tachycardia resistant to several medications, and three patients with WPW syndrome all of whom required repeat ablations. Conduction abnormalities had a positive correlation with higher heteroplasmy levels (mean 35 % vs 51%, 95% CI -30.2 to -2.88, p=0.019). Six patients with MELAS had cardiomyopathy of varying severity which were all associated with conduction abnormalities, including two patients with WPW syndrome (p=0.014).Conclusion:The prevalence of WPW in patients with MELAS syndrome and the m.3243A >G variant appears much higher than in the normal population and may require multiple electrophysiology studies ablations to treat. Routine cardiology screening is recommended for early detection.

Circulation, Volume 148, Issue Suppl_1, Page A17249-A17249, November 6, 2023. Introduction:Wolff-Parkinson-White syndrome (WPW) is a congenital heart disease associated with life-threatening arrhythmias. However, little is known about the epidemiology of WPW in the general population.Goals:To describe the frequency, predictors, and management associated with WPW among California residents.Methods:We used Ambulatory Surgery, Emergency Department, and Inpatient data from the California Department of Health Care Access and Information to identify California residents receiving hospital care between January 1, 2005 to December 31, 2020. Demographics were ascertained from the database. Rurality was determined using the CDC Urban-Rural Classification. Diagnoses and procedures were identified using clinical diagnostic codes. Two multivariable logistic regression models were used to 1) assess the association between patient characteristics and WPW in the entire cohort and 2) examine the odds of undergoing an electrophysiology study (EPS)/ablation among those with WPW. All models were adjusted for sex, rurality, race/ethnicity, and median income.Results:Among 31,414,813 individuals (53% female, 53% non-White, 3% rural), 19,866 (0.06%) had WPW. After multivariable adjustment, those who were female, non-White, or residing in a lower income county had lower odds of having a diagnosis of WPW. Among those with WPW, those who were female, Black, Native Hawaiian/Pacific Islander, or residing in a lower income county were less likely to undergo EPS/ablation. Hispanics and Asians with WPW were more likely to undergo an EPS/ablation than non-Hispanic Whites (Figure).Conclusions:There are substantial differences in both the diagnosis and treatment of WPW by patient characteristics. Whether, or to what degree, these are due to biological differences, the clinical presentation, access to care, or willingness to undergo interventions is deserving of future research.

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