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ABSTRACT: Although the existence of the young patients with aortic disease not fulfilling the diagnostic criteria for Marfan syndrome (MFS) has been known, the etiology of their disease has not yet been elucidated. The purpose of the present study was to elucidate the genetic and clinical features of the young patients with aortic disease not having MFS.
Eighty young adult patients with aortic disease were examined. They were divided into a definite MFS (n=51) and a non-definite MFS group (n=29) according to the Ghent nosology. Clinical and genetic characteristics were compared between the 2 groups. Among 29 non-definite MFS probands, 1 (3%) FBN1, 2 (7%) TGFBR1, and 3 (10%) TGFBR2 mutations were found, and 4 ACTA2 mutations were found in the 23 probands examined without FBN1, TGFBR1, or TGFBR2 mutations. In total, more than 10 out of 29 (34%) probands in the non-definite MFS group were associated with genetic mutations. Skeletal involvement was less frequent in the non-definite than in the definite MFS group (7% vs 82%, P<0.01).
In the probands with aortic diseases in young who cannot be diagnosed with MFS, mutations other than FBN1 mutations accounted for at least one-third of all causes of aortic disease.
Circulation Journal 03/2010; 74(5):990-7. · 3.77 Impact Factor
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Internal Medicine 01/2010; 49(1):83-4. · 0.94 Impact Factor
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Hiroko Morisaki,
Koichi Akutsu,
Hitoshi Ogino,
Norihiro Kondo,
Itaru Yamanaka,
Yoshiaki Tsutsumi,
Tsuyoshi Yoshimuta, Toshiya Okajima,
Hitoshi Matsuda,
Kenji Minatoya,
Hiroaki Sasaki,
Hiroshi Tanaka,
Hatsue Ishibashi-Ueda,
Takayuki Morisaki
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ABSTRACT: Approximately 20% of aortic aneurysm and/or dissection (AAD) cases result from inherited disorders, including several systemic and syndromatic connective-tissue disorders, such as Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome, which are caused by mutations in the FBN1, COL3A1, and TGFBR1 and TGFBR2 genes, respectively. Nonsyndromatic AAD also has a familial background, and mutations of the ACTA2 gene were recently shown to cause familial AAD. In the present study, we conducted sequence analyses of the ACTA2 gene in 14 unrelated Japanese patients with familial thoracic AAD (TAAD), and in 26 with sporadic and young-onset TAAD. Our results identified three mutations of ACTA2, two novel [p.G152_T205del (c.616+1G>T), p.R212Q] and one reported (p.R149C), in the 14 patients with familial TAAD, and a novel mutation (p.Y145C) of ACTA2 in the 26 sporadic and young-onset TAAD patients, each of which are considered to be causative for TAAD. Some of the clinical features of these patients were the same as previously reported, whereas others were different. These findings confirm that ACTA2 mutations are important in familial TAAD, while the first sporadic and young-onset TAAD case with an ACTA2 mutation was also identified.
Human Mutation 07/2009; 30(10):1406-11. · 5.69 Impact Factor
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The Canadian journal of cardiology 07/2009; 25(6):365. · 3.36 Impact Factor
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The Canadian journal of cardiology 07/2009; 25(6):367. · 3.36 Impact Factor
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Yuiichi Tamori,
Koichi Akutsu,
Satoshi Kasai,
Shingo Sakamoto, Toshiya Okajima,
Tsuyoshi Yoshimuta,
Naoyuki Yokoyama,
Hitoshi Ogino,
Masahiro Higashi,
Hiroshi Nonogi,
Satoshi Takeshita
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ABSTRACT: Aortic aneurysms are found in 5-20% of patients with acute aortic dissection (AAD). Coexisting aortic aneurysms might potentially influence the incidence of AAD. The purpose of this study was to elucidate the role of coexistent aortic aneurysms in AAD.
A total of 140 patients with AAD were enrolled in the present study. Clinical characteristics of the patients were evaluated in relation to the locations of aortic segments affected by the dissection as well as of the coexistent aortic aneurysm. Among the 140 study patients, 34 (24%) had true aortic aneurysms. Patients with coexistent aortic aneurysm were significantly older than those without (72 +/- 11 years vs 65 +/- 14 years, P=0.012) and had higher incidence of thrombosed false lumen (62% vs 38%, P=0.017), and coronary artery disease (26% vs 8%, P=0.006). Twenty-two of these 34 (65%) patients had a thoracic aortic aneurysm (TAA), and this frequency of TAA was much higher than that observed in the general population. Furthermore, among all patients with AAD, 12 patients (9%) might be associated with development of AAD.
The current study showed that nearly one-quarter of AAD patients had coexisting true aortic aneurysms, and suggests that TAA are likely to be associated with development of AAD.
Circulation Journal 04/2009; 73(5):822-5. · 3.77 Impact Factor
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ABSTRACT: Diagnosis of Marfan syndrome (MS) is made according to the Ghent nosology, which is based on data from European and American populations. The validity of applying the Ghent nosology to other than Western populations is an ongoing discussion because there may be racial differences in basic physical features. The validity of applying the Ghent nosology to patients other than Westerners suspected of having MS was examined. One hundred thirteen Japanese patients who were suspected of having MS and underwent genetic analysis were examined to see whether they fulfilled the Ghent nosology. Of 113 patients, MS was diagnosed in 58 patients/51 probands. Of these 51 probands, 46 (90%) showed mutations in the Fibrillin-1 gene(FBN1) and were enrolled in this study. The frequency of each manifestation of Ghent nosology in the Japanese population was compared with those reported in the FBN1 Universal Mutation Database that was mainly obtained from the Western population (n = 1,013 probands). Frequencies were lower in the Japanese population than the Western population of the manifestations of arm span to height ratio >1.05 (20% vs 55%; p <0.01), scoliosis (40% vs 53%; p <0.05), reduced extension at elbows (2% vs 16%; p <0.05), and joint hypermobility (46% vs 63%; p <0.05). In conclusion, we found a lower frequency of skeletal manifestations of MS in Japanese patients than reported in the database for Western patients with MS. It was possible that the diagnosis of MS according to the Ghent nosology for Japanese patients was underestimated, especially for skeletal involvements.
The American journal of cardiology 04/2009; 103(8):1146-8. · 3.58 Impact Factor
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The Canadian journal of cardiology 01/2009; · 3.36 Impact Factor
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The Canadian journal of cardiology 06/2008; 24(5):e34. · 3.36 Impact Factor
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Circulation 06/2008; 117(19):2542-3. · 14.74 Impact Factor
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ABSTRACT: Eighty-four-year-old male patient with liver cirrhosis, suffered from dyspnea on August 2006. Four months later, his symptom has remained and he was admitted to our hospital. A white blood cell decrease and anemia were observed by the blood test. He underwent echocardiography and 99mTc-tetrofosmin myocardial scintigraphy (99mTc-Tf) at rest, which showed no abnormal cardiac imaging. But 99mTc-Tf whole-body planar imaging showed extremely increased bone marrow uptake. 99mTc-HMDP bone scintigraphy also showed abnormal hot spots in the same skeletal regions. Bone marrow biopsy revealed myelodysplastic syndrome like findings. 201Tl and 99mTc as tracers for myocardial perfusion imagings were used to evaluate coronary heart disease, but increased uptake of these tracers were reported in malignant tumors and bone metastasis. He did not have malignant tumor or bone metastasis, so increased uptake of 99mTc-Tf and 99mTc-HMDP was thought to be caused by hyperactive flow with ineffective hematopoiesis. We report a case that abnormal skeletal uptake of 99mTc-Tf which was caused by ineffective hematopoiesis of myelodysplastic syndrome.
Kaku igaku. The Japanese journal of nuclear medicine 03/2008; 45(1):9-12.
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Journal of Cardiology 08/2007; 50(1):89-91. · 1.28 Impact Factor
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Clinical Nuclear Medicine 10/2004; 29(9):597. · 3.67 Impact Factor
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ABSTRACT: Increased lung uptake of thallium-201 in exercise myocardial perfusion imaging is a reliable marker of multivessel disease in patients with ischemic heart disease. This study investigated whether the lung-to-heart uptake ratio with techenetium-99m(99mTc)-tetrofosmin also provides valuable information to detect patients with multivessel disease.
Fifty-three consecutive patients (35 men, 18 women, mean age 66 +/- 11 years; single-vessel disease: 29, double-vessel disease: 16, triple-vessel disease: 8) with stable effort angina pectoris without prior myocardial infarction and 17 control subjects (12 men, 5 women, mean age 62 +/- 9 years) underwent exercise myocardial perfusion imaging with 99mTc-tetrofosmin and coronary angiography in January 2000 to December 2002. The lung-to-heart uptake ratio was calculated on an anterior projection before reconstruction of the exercise single photon emission computed tomographic images.
The mean lung-to-heart uptake ratio was 0.34 +/- 0.04, 0.38 +/- 0.07, 0.41 +/- 0.05, and 0.46 +/- 0.09, in patients with normal coronary, single-vessel disease, double-vessel disease, and triple-vessel disease, respectively. Significantly higher lung-to-heart uptake ratio was associated with more diseased vessels (p < 0.05). Multivessel disease could be detected with a sensitivity of 67% and a specificity of 74% if the cut-off point of the lung-to-heart uptake ratio was set as 0.4. Combining lung-to-heart uptake ratio with conventional myocardial perfusion imaging improved the sensitivity to detect multivessel disease to 83% and the specificity to 74%.
Lung-to-heart uptake ratio measured by exercise myocardial scintigraphy with 99mTc-tetrofosmin can provide clinically useful information to detect multivessel disease in patients with ischemic heart disease.
Journal of Cardiology 05/2004; 43(4):165-71. · 1.28 Impact Factor
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ABSTRACT: The clinical significance of the paradoxical mismatched phenomenon between (201)Tl and (123)I-BMIPP is still unknown. We report two cases that revealed paradoxical regional myocardial uptake between two tracers in patients with cardiomyopathy. There may be abnormal myocardium in these patients where active transportation of (201)Tl is disturbed and passive transportation of (123)I-BMIPP is not disordered.
Heart and Vessels 04/2003; 18(1):55-6. · 2.05 Impact Factor
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Kenji Ueshima,
Tomohisa Miyakawa,
Yasuyo Taniguchi,
Osamu Nishiyama,
Takehiko Musha,
Masahiko Saitoh,
Junnya Kamata, Toshiya Okajima,
Mami Aisaka,
Masayuki Nagamine,
Katsuhiko Hiramori
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ABSTRACT: Myocardial perfusion and fatty acid uptake at rest were assessed by SPECT with 201Tl (Tl) and 123I-BMIPP (BMIPP) in 50 consecutive patients with coronary heart disease. Discrepant regional myocardial uptake was observed in 19 patients and classified into the following two groups: mismatch (MM; Tl uptake > BMIPP uptake, n = 14, mean age, 66 years) and paradoxical mismatch (PM; Tl uptake < BMIPP uptake, n = 5, mean age, 68 years). In the MM group, 77% was single- or zero-vessel disease and the artery-perfused region in the mismatched area was almost always ischemia related. Sixty percent of the regions observed with the PM were related to the inferior wall. In the PM group, 80% of cases were associated with multivessel stenoses and 60% of cases was suffered from ischemic attack within a week before scintigraphy. In conclusion, mismatch was related to abnormal fatty acid uptake caused by coronary heart disease. Although the paradoxical mismatch might mainly be related to diaphragmatic attenuation of Tl scans and augmented artifacts of BMIPP scans in the inferior wall, we should not overlook severe coronary heart disease in patients with paradoxical mismatched phenomenon.
The International Journal of Cardiovascular Imaging 09/2002; 18(4):273-8. · 2.29 Impact Factor
