Impact of tricuspid valve regurgitation on intermediate outcomes of degenerative mitral valve surgery.

BACKGROUND: In patients undergoing mitral valve surgery, optimal management of less-than-severe concomitant tricuspid valve regurgitation (TR) is unclear, as there are few long-term data. This study examines progression of TR, patient survival, and reoperations in patients undergoing mitral valve surgery. METHODS: There were 1588 patients who underwent degenerative mitral valve surgery and had pre- and postoperative echocardiograms for assessment of TR severity and tricuspid annulus diameter. Analysis used repeated-measures ordinal regression to model the longitudinal trends in TR grade and proportional hazards regression for long-term survival and reoperation outcomes. RESULTS: Concomitant tricuspid valve (TV) surgery was performed in 235 (14.8%) patients. In response to surgery, TR grades improved more in patients with concomitant TV intervention regardless of the severity of preoperative TR, and these early trends were sustained over long-term follow-up. Risk of progression to severe TR was not influenced by tricuspid annulus diameter (P = .226). After we adjusted for underlying health characteristics, survival following mitral valve surgery was similar in patients with and without TV intervention. Late TV reoperation was observed in 22 patients (5-year cumulative risk 1.5%), but among these, only 6 patients had severe TR as the primary indication for reoperation; preoperative TR grade and initial concomitant TV surgery were not associated with incidence of reoperation. CONCLUSIONS: Concomitant TV surgery for moderate TR reduces progression of TR but did not influence survival or incidence of reoperation. Among patients with less-than-severe preoperative TR, tricuspid annular diameter was not associated with progression to severe TR.

Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families.

BACKGROUND: Recessive forms of megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM 604004) is a rare early-onset leukodystrophy that presents with macrocephaly, seizures, slowly progressive gross motor deterioration, and MRI evidence of diffuse symmetric white matter swelling and subcortical cysts in the anterior temporal and frontoparietal regions. Later in the disease course, significant spasticity and ataxia develop, which may be accompanied by intellectual deterioration. This disease is caused mostly by biallelic pathogenic variants in the MLC1 gene. METHODS: In this study, we analysed the clinical and molecular architecture of 6 individuals, belonging to 4 unrelated consanguineous Palestinian families, presenting with consistent MLC features. We sequenced the entire coding and flanking intronic regions of the MLC1 gene. RESULTS: In all recruited individuals, we detected one recurrent homozygous splice donor mutation NM_015166.4: c.423 + 1G > A. All parents were heterozygous carriers. The mutation abolishes a highly conserved splice site in humans and other species. In silico splice predictors suggested the loss of a canonical splice donor site (CADD score 33.0. SpliceAI: 0.980). The c.423 + 1G > A variant is rare; it was detected in only 4 heterozygous carriers in gnomAD. CONCLUSION: In this study, we identified a recurrent MLC1 variant (c.423 + 1G > A) as the cause of MLC among a group of Palestinian patients originating from a particular region of the country. Cost-effective studies should be performed to evaluate the implementation of carrier screening in adults originating from this region. Our findings have the potential to contribute to improved genetic diagnosis and carrier testing for individuals within this population and the wider community.

Association of Cirrhosis and Other Patient and Procedural Characteristics With Postembolization Syndrome After Bland Hepatic Artery Embolization for Hepatic Malignancy.

BACKGROUND. Patients who undergo bland hepatic artery embolization (HAE) for the treatment of hepatic malignancy may undergo routine overnight postprocedure hospitalization to monitor for postembolization syndrome (PES) given the potential for ischemic injury from HAE to lead to rapid onset of PES. In our experience, PES after HAE is more frequent in patients without cirrhosis. OBJECTIVE. The purpose of this study was to investigate the utility of cirrhosis and other patient and procedural characteristics in predicting the development of PES after bland HAE performed for the treatment of hepatic malignancy. METHODS. This retrospective study included 167 patients (122 men and 45 women; mean age, 63.5 ± 13.1 [SD] years) who underwent a total of 248 bland HAE procedures to treat primary or secondary hepatic malignancy. All patients were hospitalized for 24 hours of observation after HAE to monitor for and manage PES symptoms. PES severity was graded using the Southwest Oncology Group's toxicity coding scale. Patient and procedural characteristics were recorded. Associations with the development of PES were explored. A risk model to predict the risk of PES was constructed using independent predictors of PES in multivariable analysis. RESULTS. PES developed after 51.2% (127/248) of procedures; 23 cases were mild, 50 were moderate, and 54 were severe. PES developed in 32.1% (45/140) of patients with cirrhosis versus 75.9% (82/108) of patients without cirrhosis, whereas severe PES developed in 10.0% (14/140) versus 37.0% (40/108) of such patients, respectively. In multivariable analysis (which controlled for primary versus secondary malignancy, comorbidities, pre-procedure laboratory values, size and multiplicity of treated lesions, lobar vs segmental embolization, embolized artery, and embolic material used), independent predictors of lower likelihood of PES were older age (OR = 0.95 [95% CI, 0.92-0.99]), cirrhosis (OR = 0.26 [95% CI, 0.11-0.64]), and primary hepatic malignancy (OR = 0.34 [95% CI, 0.13-0.93]); the only independent predictor of a higher likelihood of PES was embolization of 50% or more of liver volume (OR = 4.29 [95% CI, 1.89-10.18]). A risk model using these factors had sensitivity of 75.6% and specificity of 76.0% for predicting PES. CONCLUSION. Cirrhosis was associated with a decreased risk of PES after bland HAE performed for the treatment of hepatic malignancy. A risk model combining cirrhosis and other factors had good performance in predicting the risk of PES. CLINICAL IMPACT. These findings may be applied to the selection of patients for early discharge after bland HAE, to avoid the need for overnight inpatient monitoring.

Management of Postoperative Complications Following Endovascular Aortic Aneurysm Repair.

Endovascular aneurysm repair (EVAR) is a minimally invasive therapeutic approach to manage abdominal aortic pathologies (eg, aneurysm and dissection). EVAR was first introduced in 1991. In 1994, endovascular technique was also applied for thoracic aorta, thoracic endovascular aortic repair (TEVAR). In recent decades, EVAR has become an acceptable first-line treatment with 50% utilization rate across most practices, especially in high-risk patients. The safety profile of EVAR is comparable to the open approach, with superiority in terms of perioperative mortality and morbidity. This article summarizes the most common complications following EVAR/TEVAR and the most current treatment modalities across practices.