• Journal of Chest Surgery
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• v.40 no.2 s.271
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• pp.83-89
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• 2007

Background: The surgical repair of an isolated coarctation of the aorta, without complex cardiac anomalies, has improved, with very good results. However, despite the success of surgical repair, many long-term complications, such as hypertension, re-coarctation and an aortic aneurysm, still exist. Material and Method: Between 1991 and 2006, 50 patients diagnosed with an isolated coarctation of the aorta were reviewed retrospectively. The incidence of re-coarctation and hypertension were compared with respect to age and surgical methods. Result: There were no early & late mortality, or post operative aortic aneurysms. Hypertension developed in 11 patients (22%). A greater number of patients in the child/adult group had hypertension (52.4%) than in the neonate/infant group (0%). With respect to the surgical methods, the patients in the graft interposition group suffered more hypertension (88.9%) than those in the EEEA (extended end to end anastomosis) group (5.3%). Post operative re-coarctation developed in 2 out of the 29 patients (6.9%) in the neonate/infant group and 2 out of the 21 patients (9.5%) in the child/adult group, but without any statistical difference. There were no statistical differences between the operative type-related groups. Conclusion: Even though the surgical outcomes have greatly improved, an isolated coarctation of the aorta still has many long-term problems, such as hypertension and re-coarctation. An isolated coarctation is accepted as a systemic vascular dysfunction, and often progresses to other cardiovascular diseases. Therefore, patients with a coarctation of the aorta have to be carefully followed-up, and aggressive management must be given when required.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.38-44
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• 2007

Purpose : Menkes disease is an X-linked recessively inherited disorder caused by the mutation of the ATP7A gene encoding copper-transporting P-type AT Pase. The phenotypic features are progressive neurological degeneration, mental retardation, loose skin, and vascular complications. Early diagnosis and treatment are very important for the prognosis of Menkes disease. Here, we describe nov el mutations of the ATP7A gene and prenatal diagnosis by mutation analysis. Methods : Five unrelated Korean Menkes patients were included in this study. They presented with depigmented wool-like hair, progressive neurologic deterioration, and hypotonia in infancy. Serum copper and ceruloplasmin levels w ere decreased. Brain magnetic resonance imaging revealed tortuous intracranial vessels. Mutation analysis has been carried out using cDNA from cultured skin fibroblasts or genomic DNA from peripheral leukocytes. Prenatal diagnosis was performed in two cases using chorionic villi samples or amniocytes. Results : Four novel mutations have been identified from four different families; c.3511+1G>A (p.E1099_N1171delinsMfsX 18), c.4005+5 G>A (p.V1268_R1335del), c.1870_2172del (p.S624_Q724del), and c.3352 G>A (p.G1118S). T he remaining one was previously reported (c.1933 C>T (p.V 1268_R1335del)). On prenatal DNA analysis, one w as diagnosed as normal, while the other turned out to be a female heterozygote with p.S624_Q724del mutation of the ATP7A gene. Conclusion : We identified 4 novel mutations of the ATP7A gene. Prenatal diagnosis in families at risk is critical in order to choose preventiv e options including an early treatment with copper-histidine therapy or therapeutic termination. Most mutations of the ATP7A gene were frame-shift mutations and prenatal diagnosis has been successfully carried out.

• Nuclear Medicine and Molecular Imaging
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• v.42 no.4
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• pp.267-274
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• 2008

Purpose: Transient neurological deterioration (TND) is one of the complications after extracranial-intracranial bypass surgery, and it has been assumed to be caused by postoperative transient hyperperfusion. This study was performed to evaluate the relationship between TND and preoperative and postoperative cerebral perfusion status on brain perfusion SPECT following superficial temporal artery - middle cerebral artery (STA-MCA) anastomosis surgery. Materials and Methods: A total of 60 STA-MCA anastomosis surgeries of 56 patients (mean age: $50{\pm}16$ yrs; M:F=29:27; atherosclerotic disease: 33, moyamoya disease: 27) which were done between September 2003 and July 2006 were enrolled. The resting cerebral perfusion and cerebral vascular reserve (CVR) after acetazolamide challenge were measured before and 10 days after surgery using 99mTc-ethylcysteinate dimer (ECD) SPECT. Moreover, the cerebral perfusion was measured on the third postoperative day. With the use of the statistical parametric mapping and probabilistic brain atlas, the counts for the middle cerebral artery (MCA) territory were calculated for each image, and statistical analyses were performed. Results: In 6 of 60 cases (10%), TND occurred after surgery. In all patients, the preoperative cerebral perfusion of affected MCA territory was significantly lower than that of contralateral side (p=0.002). The cerebral perfusion on the third and tenth day after surgery was significantly higher than preoperative cerebral perfusion (p=0.001, p=0.02). In TND patients, basal cerebral perfusion and CVR on preoperative SPECT were significantly lower than those of non-TND patients (p=0.01, p=0.05). Further, the increases in cerebral perfusion on the third day after surgery were significant higher than those in other patients (p=0.008). In patients with TND, the cerebral perfusion ratio of affected side to contralateral side on third postoperative day was significantly higher than that of other patients (p=0.002). However, there was no significant difference of the cerebral perfusion ratio on preoperative and tenth postoperative day between patients with TND and other patients. Conclusion: In patients with TND, relative and moderate hyperperfusion was observed in affected side after bypass surgery. These finding may help to understand the pathophysiology of TND.