22 research outputs found

    Coincidence of paroxysmal supraventricular tachycardia and panic disorder: two case reports

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    Panic disorder (PD) is characterised by sudden attacks of intense fear with somatic symptoms including palpitations and tachycardia. Reciprocally, palpitations caused by paroxysmal supraventricular tachycardia (PSVT) are commonly associated with anxiety and may therefore be misdiagnosed as PD. As demonstrated by two case reports, PSVT and PD can occur comorbidly in a chronological sequence, with PSVT possibly precipitating and maintaining PD via interoceptive processes or, alternatively, with PD increasing the risk for PSVT by elevating stress levels. As both PSVT and PD require different treatments, potentially helpful differential clinical diagnostic criteria are proposed

    Gender Differences in Ventricular Tachyarrhythmia Events in the Raid Trial

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    Background: Women have previously shown to be at a lower risk of ventricular tachyarrhythmia (VT) events in ICD trials, however, more contemporary data on the risk of VT/VF by gender, utilizing uniform, novel ICD programming are lacking. Objective: We aimed to assess gender differences in VT/VF events treated with ATP or treated with shock, and all-cause mortality in the RAID trial. Methods: The RAID trial enrolled high-risk ICD patients with ischemic or non-ischemic cardiomyopathy randomized to ranolazine or placebo. ICD programming was pre-specified with VT zone 190-220 bpm with 1 ATP and shocks and VF zone \u3e220 bpm with shocks. Gender differences in VT/VF requiring ATP or shock were evaluated using Kaplan-Meier analysis and Cox models in an intention to treat analysis. All VT/VF episodes were centrally adjudicated. Results: There were 186 women (18%) out of 1012 subjects enrolled in RAID trial. Women were younger (61 vs. 65 years, p\u3c0.001), more often non-ischemic (71% vs. 40%), p\u3c0.001), they less often had diabetes (25% vs. 35%, p=0.007), and they had a shorter QRS duration (121 vs. 133 ms (p\u3c0.001). Compared to men, women were at a significantly lower risk of VT/VF/Death (HR=0.70, p=0.046), a lower risk of VT/VF (HR=0.60, p=0.016), a lower risk of VT/VF treated with ATP (HR=0.56, p=0.02), and a lower risk of VT/VF treated with shock (HR=0.44, p=0.007) (Figure). The risk of mortality was similar between men and women (HR=0.78, p=0.421). Conclusion: High-risk women implanted with an ICD or a CRT-D in the RAID trial were found to be at a significantly lower risk of VT/VF/death, VT/VF, VT/VF requiring ATP or shock when compared to men. However, both men and women had a similar risk of mortality

    O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.

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    O'Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant neurodevelopmental disorder caused by pathogenic, mostly truncating variants in KMT2E. It was first described by O'Donnell-Luria et al in 2019 in a cohort of 38 patients. Clinical features encompass macrocephaly, mild intellectual disability (ID), autism spectrum disorder (ASD) susceptibility and seizure susceptibility. Affected individuals were ascertained at paediatric and genetic centres in various countries by diagnostic chromosome microarray or exome/genome sequencing. Patients were collected into a case cohort and were systematically phenotyped where possible. We report 18 additional patients from 17 families with genetically confirmed ODLURO. We identified 15 different heterozygous likely pathogenic or pathogenic sequence variants (14 novel) and two partial microdeletions of KMT2E. We confirm and refine the phenotypic spectrum of the KMT2E-related neurodevelopmental disorder, especially concerning cognitive development, with rather mild ID and macrocephaly with subtle facial features in most patients. We observe a high prevalence of ASD in our cohort (41%), while seizures are present in only two patients. We extend the phenotypic spectrum by sleep disturbances. Our study, bringing the total of known patients with ODLURO to more than 60 within 2 years of the first publication, suggests an unexpectedly high relative frequency of this syndrome worldwide. It seems likely that ODLURO, although just recently described, is among the more common single-gene aetiologies of neurodevelopmental delay and ASD. We present the second systematic case series of patients with ODLURO, further refining the mutational and phenotypic spectrum of this not-so-rare syndrome
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