Project description:A 79-year-old man with chest pain and dyspnea underwent emergency percutaneous coronary intervention for acute myocardial infarction. However, he died 17 days later due to refractory heart failure. An autopsy revealed cardiac strangulation caused by herniation of the apical heart through a pericardial defect due to partial absence of the pericardium. (Level of Difficulty: Advanced.).
Project description:Pericardial defects are uncommon, usually congenital, and frequently involve a complete absence of the pericardium. Partial pericardial defects are more likely to result in complications. Iatrogenic pericardial defects are usually partial defects and may present with cardiac strangulation. We present the case of an iatrogenic pericardial defect in an asymptomatic 20-year-old female.
Project description:BackgroundSurgical and perioperative improvements permit earlier repair of partial and transitional atrioventricular septal defects (AVSD). We sought to describe contemporary outcomes in a multicenter cohort.MethodsWe studied 87 patients undergoing primary biventricular repair of partial or transitional AVSD between June 2004 and February 2006 across seven North American centers. One-month and 6-month postoperative data included weight-for-age z-scores, left atrioventricular valve regurgitation (LAVVR) grade, residual shunts, and left ventricular ejection fraction. Paired methods were used to assess 6-month change.ResultsMedian age at surgery was 1.8 years; median weight z-score was -0.88. Median days for ventilation were 1, intensive care 2, and hospitalization 5, all independent of age, with 1 in-hospital death. At 1 month, 27% (16 of 73) had ejection fraction less than 55%; 20% (17 of 87) had significant LAVVR; 2 had residual shunts; 1 each had subaortic stenosis and LAVV stenosis. At 6 months (n = 60), there were no interim deaths, reinterventions, or new development of subaortic or LAVV stenosis. Weight z-score improved by a median 0.4 units (p < 0.001), especially for underweight children less than 18 months old. Left atrioventricular valve regurgitation occurred in 31% (change from baseline, p = 0.13), occurring more frequently in patients repaired at 4 to 7 years (p = 0.01). Three patients had ejection fraction less than 55%, and 1 had a residual atrial shunt.ConclusionsSurgical repair for partial/transitional AVSD is associated with low morbidity and mortality, short hospital stays, and catch-up growth, particularly in underweight children repaired between 3 and 18 months of age. Left atrioventricular valve regurgitation remains the most common residual defect, occurring more frequently in children repaired after 4 years of age.
Project description:BackgroundAlthough chest trauma happens very often, accompanying tricuspid valve injuries occur rarely and may be manifested by scarce symptoms and signs. Pericardial rupture with cardiac herniation is even a bigger rarity. Transthoracic echocardiography plays a key role in the diagnosis of valve injuries but is of limited value in cardiac herniation.Case presentationWe present the case of 58-year-old man who experienced severe chest trauma in a car accident. Symptoms of right heart failure occurred 10 years after the injury, due to the loss of tricuspid leaflet support caused by the rupture of tendinous chords with significant tricuspid regurgitation. Intraoperatively, old posttraumatic pericardial rupture into left pleura was also found, with partial cardiac herniation and pressure of the edge of pericardium on all left-sided coronary arteries simultaneously. The patient was successfully operated and is free of symptoms 4 years later.ConclusionsThis case emphasizes the importance of timely diagnosis and underlines a mechanism that leads to delayed rupture of the tricuspid valve apparatus. Repeated echocardiography in all patients who experienced chest trauma could be of great importance. Also, given the limited value of echocardiography in posttraumatic pericardial rupture and cardiac herniation, cardiac computed tomography should be performed.
Project description:Lymphocyte-specific protein tyrosine kinase (LCK) is essential for T cell antigen receptor (TCR)-mediated signal transduction. Here, we report two siblings homozygous for a novel LCK variant (c.1318C>T; P440S) characterized by T cell lymphopenia with skewed memory phenotype, infant-onset recurrent infections, failure to thrive, and protracted diarrhea. The patients' T cells show residual TCR signal transduction and proliferation following anti-CD3/CD28 and phytohemagglutinin (PHA) stimulation. We demonstrate in mouse models that complete (Lck-/-) versus partial (LckP440S/P440S) loss-of-function LCK causes disease with differing phenotypes. While both Lck-/- and LckP440S/P440S mice exhibit arrested thymic T cell development and profound T cell lymphopenia, only LckP440S/P440S mice show residual T cell proliferation, cytokine production, and intestinal inflammation. Furthermore, the intestinal disease in the LckP440S/P440S mice is prevented by CD4+ T cell depletion or regulatory T cell transfer. These findings demonstrate that P440S LCK spares sufficient T cell function to allow the maturation of some conventional T cells but not regulatory T cells-leading to intestinal inflammation.