Toshiya Okajima

Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD)

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. Hum Mutat 30:1–6, 2009.

Corkscrew collaterals in Buerger’s disease

A 62-year-old man with Buerger’s disease presented with worsening of intermittent claudication in his right limb. By conventional colour Doppler examination, the posterior tibial artery (PTA) appeared contiguous and nonobstructed (Figure 1, large arrows). Corkscrew arteries could not be visualized due to low resolution (small arrow). In contrast, advanced dynamic flow examination using Aplio SSA-700A (Toshiba, Japan) clearly demonstrated characteristic arterial features of Buerger’s disease (Figure 2). First, the flow signal of the PTA was not contiguous (large arrows), suggesting multiple recanalization of organized thrombus, which is often seen in the chronic stage of Buerger’s disease. Second, the flow signal within the PTA disappeared at the origin of the corkscrew artery (open arrow). Third, the corkscrew artery existed outside of the lumen of the PTA (small arrows). These suggested that the corkscrew artery represented a collateral vessel, which ran alongside the obstructed PTA. Figure 1 Figure 2 Recanalization of the thrombosed vessel and the presence of corkscrew collaterals around areas of segmental occlusion are characteristic features of Buerger’s disease (1,2). Conventional colour Doppler examination, however, cannot document the blood flow within tiny vessels because of the low resolution and low frame rates. Advanced dynamic flow images are very similar to B-mode images and can depict tiny vessels due to high resolution, wide dynamic range and high frame rates. Directional flow information can also be obtained in different colours. Advanced dynamic flow examination in the present patient provided visualization of the recanalized arterial segment and corkscrew collateral vessel circumventing the occlusion. This technique may be applied for noninvasive diagnosis of Buerger’s disease.

“String of Beads” Appearance of Bilateral Brachial Artery in Fibromuscular Dysplasia

A 56-year-old woman presented with chest discomfort and underwent coronary angiography via a transradial route. Left brachial artery stenosis was suspected because of difficulty in passing with a 0.035-inch guide wire. Upper-extremity angiography showed presence of multiple stenoses and aneurysmal dilatations in her brachial artery (Figure 1). Subsequent to catheterization, the patient received duplex scanning using Aplio SSA-700A (Toshiba, Tokyo, Japan) using the advanced dynamic flow …

The incidence of discrepant regional myocardial uptake between 201 thallium and 123 I-BMIPP SPECT in patients with coronary heart disease

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.

Serial assessment at computed tomography and fluorine-18-labelled deoxyglucose positron emission tomography for the diagnosis and treatment of nonaneurysmal infective aortitis

A 62-year-old man presented with persistent slight fever and lumbago, which had persevered for the past two months. The patient’s history included a dental extraction three months earlier. Laboratory analysis revealed elevated white blood cell count, erythrocyte sedimentation rate and C-reactive protein level. Computed tomography (CT) imaging revealed a soft tissue thickening surrounding the infrarenal abdominal aorta, which was enhanced with contrast media (Figure 1A, arrow). The abdominal aorta was not dilated, and was measured at a maximum diameter of 27 mm, including the surrounding soft tissue. A fluorine-18-labelled deoxyglucose (FDG) positron emission tomography (PET) scan was performed, with increased FDG uptake noted at the site of soft tissue thickening (Figure 1B, arrow). Although the patient had multiple negative serial blood cultures, based on the history of dental extraction as well as the results of the imaging studies, he was diagnosed and treated for nonaneurysmal infective aortitis. During seven weeks of antibiotic therapy, the patient’s symptoms gradually improved. The laboratory markers also normalized. A follow-up CT at 13 weeks documented improvement of periaortic tissue thickening (Figure 1C, arrow). Repeat FDG PET demonstrated resolution of the abnormal FDG uptake (Figure 1D, arrow). A follow-up CT at nine months confirmed further decrement of the periaortic soft tissue thickening (Figure 1E, arrow). FDG PET continued to show no abnormal FDG uptake (Figure 1F, arrow). Figure 1 The present case demonstrates the effectiveness of serial CT imaging in conjunction with FDG PET for the early diagnosis and treatment of this disease. To the best of our knowledge, the present article is the first to report successful antibiotic treatment of infective aortitis before aneurysm formation.

Pseudoaneurysm of the ascending aorta ruptured into the right ventricle mimicking an acute myocardial infarction

An 83-year-old man who had undergone aortic arch replacement 13 years previously was admitted to the National Cardiovascular Centre (Suita, Japan) with a suspected acute myocardial infarction. This diagnosis was based on the presence of chest pain in association with a raised white blood cell count and elevated levels of cardiac enzymes. Transthoracic echocardiography showed normal left ventricular contraction and a markedly enlarged ascending aorta. Colour Doppler examination showed the presence of shunt flow from the ascending aorta into the right ventricle (Figure 1). Computed tomographic scanning revealed a pseudoaneurysm of the ascending aorta with a maximum aortic diameter of 7.2 cm and a fistula into the right ventricle (Figure 2). Multidetector computed tomography coronary angiography showed normal coronary arteries. The patient subsequently underwent a successful ascending aorta replacement. Figure 1) Colour Doppler imaging showing shunt flow from the ascending aorta (AO) into the right ventricular outflow tract (RVOT) Figure 2) Computed tomography showing a pseudoaneurysm (P) of the ascending aorta (Ao) and a fistula (arrow) into the right ventricle (RV) Fistula formation between the aorta and the cardiac chamber has been described as a potential complication of ascending aortic diseases, such as aortic dissection (1) and sinus of Valsalva aneurysm (2). To the best of our knowledge, however, there have been no reports describing this condition as a complication of aortic aneurysms. Although the patient had a history of aortic arch repair 13 years previously, findings during surgery suggested no apparent relationship between this history and the subsequent development of the ascending aortic aneurysm.

Paradoxical regional myocardial uptake between 201Thallium and 123I-BMIPP SPECT in patients with cardiomyopathy.

Abstract. The clinical significance of the paradoxical mismatched phenomenon between 201Tl and 123I-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 201Tl is disturbed and passive transportation of 123I-BMIPP is not disordered.

Giant aortic root aneurysm after aortic valve replacement

A 29-year-old man on chronic hemodialysis underwent aortic valve replacement for severe aortic regurgitation. The aortic valve was tricuspid and the ascending aorta was not dilated. Thirteen years later, he was referred to the National Cardiovascular Center (Suita, Osaka, Japan) due to aortic root aneurysm. Transthoracic echocardiography showed a markedly enlarged aortic root with normal prosthetic valve function. Computed tomography scanning revealed a giant aortic root aneurysm with a maximum diameter of 87 mm (Figure 1). The patient subsequently underwent a successful aortic root replacement and Bentall procedure. Figure 1) Computed tomography scanning revealing a giant aortic root aneurysm with a maximum diameter of 87 mm. Ao Aorta; LV Left ventricle A previous study reported that nearly 30% of patients having aortic valve replacement would eventually receive aortic repair for enlargement of the aortic root and ascending aorta (1). Cystic medial degeneration constitutes the major underlying pathology in these patients (2). In our patient, pathological examination revealed a moderate degree of cystic medial degeneration in the aortic specimens excised at the time of the second operation. For patients with cystic medial degeneration, careful longitudinal follow-up is recommended after aortic valve replacement regardless of whether the valve is bicuspid or tricuspid.