Weill-Marchesani syndrome (WMS) is a rare form of acromelic dysplasia that is characterized by distinctive skeletal, ocular, and cardiovascular abnormalities. Previously described cardiac manifestations of WMS include aortic and pulmonary valve stenosis, mitral valve prolapse, mitral stenosis, and QTc prolongation. Autosomal dominant forms of WMS result from heterozygous pathogenic variants in FBN1, a gene with a well characterized role in the pathogenesis of thoracic aortic aneurysm (TAA) in the context of Marfan syndrome. In contrast, only one patient has been reported with aortic disease in WMS. Although the risk of aortic dissection from preceding TAA remains the leading cause of morbidity for individuals with Marfan syndrome, rare reports of arterial dissection in the peripheral vasculature have been described. Peripheral artery dissection has not been previously reported in other FBN1-related diseases. We describe a three generation family with FBN1-related WMS whose cardiovascular manifestations include TAA and cervical artery dissection, thus expanding the cardiovascular phenotype of WMS. Further research is required to quantify these risks and establish appropriate recommendations for cardiovascular imaging, medical management, and prophylactic surgical intervention in individuals with FBN1--related acromelic dysplasia.

A symptomatic Fabry carrier may experience an otherwise uncomplicated pregnancy in the absence of vital organ involvement.

This report summarizes the results of a randomized, double-blind, parallel group, multicenter study which compared the antiarrhythmic activity and safety of oral disopyramide phosphate and oral quinidine sulfate. A total of 124 outpatients, whose pretreatment rates of ventricular and/or supraventricular arrhythmias were documented by ambulatory ECG recordings, were randomly assigned to receive either oral disopyramide or oral quinidine for the eight-week course of the study. Every two weeks, ten-hour ambulatory ECG recordings were obtained from each patient and blood was drawn to determine serum concentrations of assigned drug.

Purpose of reviewDelirium is a marker of acute brain insufficiency and a harbinger of poor outcomes and increased healthcare costs. Despite success preventing delirium by nonpharmacologic measures, the incidence in the postcardiac surgical ICU population remains high. Dexmedetomidine, a selective alpha-2 agonist, is a plausible preventive agent with sedative, anxiolytic, analgesic, sympatholytic and anti-inflammatory properties, and is the subject of very active study in cardiac surgery populations.Recent findingsRecent trials, including DEXACET (2019), DECADE (2020), LOWDEXDEL (2021), and DIRECT (2022) individually, failed to show a benefit for dexmedetomidine and highlighted associated risks. Meta-analyses have offered conflicting results, highlighting the complexity of delirium, and likely interaction of multiple etiological pathways; those that concluded benefit often were driven by trials at high risk of bias. Meta-analyses excluding biased trials currently suggest no benefit for dexmedetomidine over control in unselected cardiac surgical populations.SummaryAlthough using dexmedetomidine to prevent delirium in unselected cardiac surgical patients is not supported by current evidence, there remains hope that it may offer benefits in highly selected populations, and further trials are ongoing.

Carcinoid crisis is a life-threatening manifestation of carcinoid syndrome characterized by profound autonomic instability in the setting of catecholamine release from stress, tumor manipulation, or anesthesia. Here, we present an unusual case of carcinoid crisis leading to acute systolic heart failure requiring mechanical circulatory support. ( Level of Difficulty: Intermediate. )