3D Printed Personalized External Aortic Root Model in Marfan Syndrome with Isolated Sinus of Valsalva Aneurysm Caused by a Novel Pathogenic FBN1 p.Gly1127Cys Variant.

The major cause of death in Marfan syndrome (MFS) is cardiovascular complications, particularly progressive dilatation of the proximal aorta, rendering these patients at risk of aortic dissection or fatal rupture. We report a 3D printed personalized external aortic root model for MFS with an isolated sinus of Valsalva aneurysm caused by a novel pathogenic FBN1 variant. A 67-year-old female with a history of lens dislocation and retinal detachment in the left eye was admitted for the evaluation of resting dyspnea several months prior. Transesophageal and transthoracic echocardiography revealed severe aortic valve regurgitation and a large left coronary sinus of Valsalva aneurysm in the proband. Sanger sequencing identified a heterozygous p.Gly1127Cys variant in the FBN1 gene; previously, a mutation at this amino acid position was described as pathogenic (p.Gly1127Ser; rs137854468). A 3D printed personalized external aortic root model based on a multidetector computed tomography scan was constructed to illustrate the location of the ostium of the left main coronary artery on the aneurysm of the left coronary artery cusp. Aortic root replacement with the Bentall procedure matched the exact shape of the 3D printed model. Creation of a 3D printed patient-specific model could be useful in facilitating the development of next-generation medical devices and resolving the risks of postoperative complications and aortic root disease.

Integration of gene-expression profiles and pathway analysis in ascending thoracic aortic aneurysms.

BACKGROUND: Despite the increasing incidence of ascending thoracic aortic aneurysms, their pathogenesis and molecular mechanisms remain unknown. The aim of this study was to identify the biological pathways of genes that are expressed differentially in ascending aortic aneurysms. METHODS: Aneurysm wall tissues were obtained from thoracic aortic aneurysms during their repair and normal thoracic aortas from organ transplant patients. The differential expression of genes was analyzed by NimbleGen microarrays. The biological pathways and processes were identified using Kyoto Encyclopedia of Genes and Genome pathway analysis and gene ontology analysis. RESULTS: Among 45,034 genes, 95 were differentially expressed (>two-fold change compared with control). A total of 76 genes were up-regulated and 19 genes were down-regulated in patients with ascending thoracic aneurysm. Analysis of the Kyoto Encyclopedia of Genes and Genomes pathways revealed 26 biologically functional pathways in the following categories: focal adhesion, cell junctions, peroxisome proliferator-activated receptor signaling pathway, extracellular matrix-receptor interaction, T-cell-receptor signaling pathway, B-cell-receptor signaling pathway, and regulation of the actin cytoskeleton. Differentially expressed genes were associated with 123 different gene ontology biological processes: transport, signal transduction, inflammatory response, chemotaxis, and immune response. CONCLUSION: We identified that differentially expressed genes are associated with the pathways that are mainly involved in interactions between cells and the extracellular matrix, and with immune function. The reported data provide useful information on the molecular mechanisms underlying the formation of ascending aortic aneurysms.

Clinical outcome after pulmonary metastasectomy from primary hepatocellular carcinoma: analysis of prognostic factors.

AIM: To review the surgical outcomes in terms of the surgical indications and relevant prognostic factors. METHODS: Sixteen patients underwent therapeutic lung surgery between March 1999 and May 2006. The observation period was terminated on May 31, 2007. The surgical outcomes and the clinicopathological factors were compared. RESULTS: There was no mortality or major morbidity encountered in this study. The mean follow-up period after metastasectomy was 26.7 +/- 28.2 (range: 1-99 mo), and the median survival time was 20 mo. The 1- and 5-year survival rates were 56% and 26%, respectively. At the end of the follow-up, 1 patient died from hepatic failure without recurrence, 6 died from hepatic failure with a recurrent hepatocellular carcinoma (HCC), and 4 died from recurrent HCC with cachexia. Among several clinical factors, Kaplan-Meier analysis revealed that liver transplantation as a treatment for the primary lesion, grade of cell differentiation, and negative evidence HBV infection were independent predictive factors. On Cox's proportional hazard model, there were no significant factors affecting survival after pulmonary metastasectomy in patients with HCC. CONCLUSION: A metastasectomy should be performed before other treatments in selected patients. Although not significant, patients with liver transplantation of a primary HCC survived longer. Liver transplantation might be the most beneficial modality that can offer patients better survival. A multi-institutional and collaborative study would be needed for identifying clinical prognostic factors predicting survival in patients with HCC and lung metastasis.

Costal exostoses as an unusual cause of spontaneous hemothorax.

A 20-year-old male presented with chest pain lasting several days. A radiologic examination revealed pleural effusion in the right hemithorax. Video-assisted thoracoscopic surgery demonstrated a bleeding focus at the diaphragm caused by injury due to a costal exostosis.

Calcified amorphous tumor in left atrium presenting with cerebral infarction.

Calcified amorphous tumor (CAT) of the heart is an extremely rare cardiac mass. We describe a case of cardiac CAT in a 70-year-old Korean female who presented with acute onset dysarthria and right side weakness. Echocardiography and chest computed tomography revealed a left atrial mass that originated from the interatrial septum. The patient underwent surgical resection and pathologic examination demonstrated CAT. Postoperative course was uneventful and she was followed without recurrence.

Primary idiopathic silent chylopericardium.

Chylopericardium usually occurs secondary to trauma, cardiothoracic surgery, radiation therapy, or neoplasm of the mediastinum. Idiopathic chylopericardium is extremely rare. We report a case of primary chylopericardium in a 79-year-old male patient. Although pericardial window and thoracic duct ligation are the treatment of choice, the patient has been doing well for six months since video-assisted thoracoscopic pericardial window.

Reexpansion pulmonary edema after treatment of simultaneous bilateral spontaneous tension pneumothorax.

We report a case of 46-year-old male with simultaneous bilateral spontaneous tension pneumothorax. Severe reexpansion pulmonary edema developed after bilateral tube thoracoscomy, but he was recovered after 2 days ventilator care. After bilateral wedge resection and talc pleurodesis, he was discharged without complications and had remained well and without recurrence during the 8-year follow-up.

A case of three consecutive events of acute myocardial infarctions in three different vessels.

A 51-year-old man was being admitted to the emergency department with chest pains. He had a history of acute myocardial infarction (MI) on two prior occasions and was successfully treated with drug eluting stents. He was diagnosed with 3 consecutive events of acute MI in 3 different vessels. The consecutive events of acute MI in different vessels are a very rare case. He did not have risk factors, such as coagulation abnormality, clopidogrel resistance, patient's compliance and vessel abnormality, except for his cigarette smoking. We reported the first case with 3 consecutive events of acute MI in each 3 vessels during a long-term interval.

Risk factors for the development of reexpansion pulmonary edema in patients with spontaneous pneumothorax.

BACKGROUND: Reexpansion pulmonary edema (REPE) is known as a rare and fatal complication after tube thoracostomy. OBJECTIVES: We investigated the risk factors for the development of REPE in patients with spontaneous pneumothorax. METHODS: We selected patients who were diagnosed with spontaneous pneumothorax and were initially treated with tube thoracostomy between August 1, 2003 and December 31, 2011. The patients' electronic medical records, including operative notes and chest x-ray and computed tomography scans, were reviewed. RESULTS: REPE developed in 49 of the 306 patients (16.0%). REPE was more common in patients with diabetes (14.3% vs 3.9%, P=0.004) or tension pneumothorax (46.8% vs 16.2%, P=0.000). The pneumothorax was larger in patients with REPE than without REPE (57.0±16.0% vs 34.2±17.6%, P=0.000), and the incidence of REPE increased with the size of pneumothorax. On multivariate analysis, diabetes mellitus [(odds ratio (OR)=9.93, P=0.003), and the size of pneumothorax (OR=1.07, P=0.000) were independent risk factors of REPE. CONCLUSIONS: The presence of diabetes increases the risk of REPE development in patients with spontaneous pneumothorax. The risk of REPE also increases significantly with the size of pneumothorax.

Safety of dental extractions in coronary drug-eluting stenting patients without stopping multiple antiplatelet agents.

BACKGROUND: The risk of excessive bleeding prompts physicians to stop multiple antiplatelet agents before minor surgery, which puts coronary stenting patients at risk for adverse thrombotic events. HYPOTHESIS: We hypothesized that most dental extractions can be carried out safely without stopping multiple antiplatelet agents. METHODS: All dental extraction patients who had undergone coronary stenting and who were also on oral multiple antiplatelet agents therapy were enrolled. One hundred patients underwent dental procedures without stopping antiplatelet agents. All wounds were sutured and followed up at 24 hours, 1 week, and 1 month after the procedure. There were 2233 patients who had not taken oral antiplatelet agents from a health promotion center and had teeth extracted by the same method. After performing propensity-score matching for the entire population, a total of 100 matched pairs of patients were created. The primary outcome was a composite of excessive intraextraction blood loss, transfusion, and rehospitalization for bleeding, and the secondary outcome was a composite of death, nonfatal myocardial infarction, target lesion revascularization, and stent thrombosis within 1 month after the procedure. RESULTS: There were 2 excessive intraextraction bleeding cases that continued at the extraction site for 4 and 5 hours, respectively, in the coronary stenting patients, and 1 excessive intraextraction bleeding case that continued for 3 hours in the control patients. There were no cases of transfusion, rehospitalization for bleeding, or major cardiovascular events for the 2 propensity-matched groups. CONCLUSIONS: We found that most dental extractions in coronary stenting patients can be carried out safely without stopping multiple antiplatelet agents.

A case of patent ductus arteriosus with congestive heart failure in a 80-year-old man.

Patent ductus arteriosus (PDA) is a rare clinical finding in adult patients. Considering the increase in cases of PDA discovered incidentally on echocardiograms at young ages, and the life-shortening effect of PDA, it is rare to diagnose PDA in old patients. We report a case of an 80-year-old patient who experienced symptoms of congestive heart failure showed findings suggestive of PDA in echocardiogram and confirmed the diagnosis through a cardiac catheterization and a coronary angiography. After percutaneous occlusion of PDA with an Amplatzer duct occlusion device, symptoms related to congestive heart failure improved.

Identification of genomic aberrations by array comparative genomic hybridization in patients with aortic dissections.

BACKGROUND: The aim of the present study was to identify chromosomal loci that contribute to the pathogenesis of aortic dissection (AD) in a Korean population using array comparative genomic hybridization (CGH) and to confirm the results using real-time polymerase chain reaction (PCR). MATERIALS AND METHODS: Eighteen patients with ADs were enrolled in this study. Genomic DNA was extracted from individual blood samples, and array CGH analyses were performed. Four corresponding genes with obvious genomic changes were analyzed using real-time PCR in order to assess the level of genomic imbalance identified by array CGH. RESULTS: Genomic gains were most frequently detected at 8q24.3 (56%), followed by regions 7q35, 11q12.2, and 15q25.2 (50%). Genomic losses were most frequently observed at 4q35.2 (56%). Real-time PCR confirmed the results of the array CGH studies of the COL6A2, DGCR14, PCSK6, and SDHA genes. CONCLUSION: This is the first study to identify candidate regions by array CGH in patients with ADs. The identification of genes that may predispose an individual to AD may lead to a better understanding of the mechanism of AD formation. Further multicenter studies comparing cohorts of patients of different ethnicities are warranted.