Comparison of aortic dissection in korean patients with versus without the marfan syndrome

Among the cardiovascular manifestations in the Marfan syndrome (MFS), aortic dissection stands out as a major cause of early mortality. The aim of this study was to test the hypothesis that patients with the MFS who experience aortic dissection differ in clinical features and outcomes from those with aortic dissection not related to the MFS. Data from patients diagnosed with aortic dissection from December 1994 to March 2009 at 1 of the major medical centers in Korea were reviewed. The clinical presentations, dissection characteristics, and outcomes of patients with and those without the MFS in a Korean population were compared. Of 445 patients with aortic dissection, 46 (10%) had the MFS. Compared to non-MFS patients, those with the MFS developed aortic dissection at younger ages (33 ± 10 vs 57 ± 13 years, p <0.001) and were less frequently hypertensive (11% vs 73%, p <0.001). During the follow-up period, patients with the MFS more often developed aortic dilatation and expansion of the dissection (39% vs 18%, p = 0.003) and showed a higher rate of reoperation (30% vs 9%, p <0.001). In conclusion, in Korean patients, aortic dissection with the MFS had different characteristics and poorer outcomes than aortic dissection without the MFS. These findings underscore the importance of accurate diagnosis and surveillance of this condition in the MFS.     

Aortic surgery in patients with marfan syndrome: long-term survival, morbidity and function

BACKGROUND AND AIM OF THE STUDY: The natural history of patients with Marfan syndrome is depressing, but surgical intervention on the aorta can improve the prognosis. Study results were analyzed with reference to long-term survival, morbidity and function. METHODS: Seventy-four Marfan patients (51 males, 23 females; mean age 41+/-14 years), underwent first-time aortic surgery between 1977 and 1998. Follow up information regarding mortality, morbidity and functional status was obtained from patient records and by questionnaire. The mean follow up was 5 years (range: 0-19 years). Forty-seven patients (64%) had a dissection, 27 (36%) an aneurysm, and 45 (61%) patients underwent emergency operations (<4 h from arrival at hospital). In 72 patients (97%) the disease affected the ascending aorta, and implantation of a composite graft was the most frequent operation. RESULTS: Overall 30-day mortality was 12% (3% in elective cases, 18% in emergency cases, p <0.05). Emergency operations and surgery extended to the aortic arch were risk factors for early mortality. Overall actuarial survival was 63.4+/-8% at 10 years. Age was the only risk factor for late mortality. Seventeen patients were reoperated on due to pathologies of the remaining aorta (n = 12), pseudoaneurysms (n = 4) and aortic valve endocarditis (n = 1). A total of five patients had endocarditis; one patient with a homograft required surgery, and medical treatment was successful in the other four patients. Five patients had neurological thromboembolic episodes without permanent damage, and six had minor bleeding complications. Freedom from early and late mortality, reoperation on the aorta and major cardiovascular events (endocarditis episodes, thromboembolic/hemorrhagic strokes and other major bleeding/embolic episodes) was 33.3 +/- 8.1% at 10 years. At follow up, 98% of patients were in NYHA functional class I or II, and 80% were working. CONCLUSION: Elective aortic surgery in Marfan patients can be performed with good results. Close follow up of patients undergoing surgery is important. The long-term functional status of surviving patients is satisfactory.     

Cardiovascular management of marfan syndrome in the young

Opinion statement Marfan syndrome is an autosomal-dominant disorder of connective tissue resulting from a mutation in the fibrillin gene. Manifestations of the disorder primarily affect the skeletal, cardiovascular, and ocular systems. The phenotypic manifestations of this disorder can be quite variable. The major cause of morbidity and mortality in this patient population is the cardiovascular manifestations of the disorder: aortic root dilation and dissection. Individuals with this disorder are at risk for catastrophic cardiovascular events, most often as a result of aortic dissection. Although the incidence of dissection in childhood is exceedingly low, the background of a progressively dilating aortic root appears to be the major factor contributing to this risk in adulthood. Therefore, it is beneficial to identify affected individuals as early as possible to institute lifestyle changes and medical therapy in an effort to enhance their long-term outcome. Familial screening, once a case has been identified, and consideration of genetic screening of an affected family may also be helpful. Medical therapy with β blockers, calcium channel blockers, and/or angiotensin inhibitors has been shown to be somewhat effective in slowing the rate of growth of the aorta. Exciting new data suggest that angiotensin II receptor antagonists may provide an even greater degree of protection from aortic dilatation in this population. Despite medical therapy, patients with Marfan syndrome do have progressive dilatation of their aortic root. The risk of aortic dissection increases with increasing size of the aorta. Prophylactic surgical techniques have been successful in reducing the morbidity and mortality associated with aortic dissection, resulting in a longer average life span in this patient population.     

Two surgical cases of acute aortic dissection in pregnancy with marfan syndrome

We describe 2 surgical cases of acute aortic type A dissection during pregnancy in women with Marfan syndrome. Both of them underwent emergency aortic root replacement under deep hypothermia; one patient was in her 21(st) week of pregnancy and the other was treated 1 day after a normal delivery. The patients experienced fair postoperative courses, but intrauterine fetus death was confirmed in the first case.     

Badly engineered fibrillin lessons from molecular studies of marfan syndrome

Marfan syndrome (MFS) is one of the most common inherited connective tissue disorders that severely affects the cardiovascular system. Mutations in the gene encoding fibrillin-1 (FBN1) have been shown to cause MFS as well as dominant ectopia lentis and neonatal Marfan syndrome. Fibrillin-1 is the major component of elastic fiber microfibrils in the extracellular matrix of connective tissue. Recent molecular studies have brought some light into understanding the pathogenesis of MFS, but the diagnostic problems still prevail, and targeted therapy of MFS must await better dissection of the role of fibrillin-1 in tissue phenotype using different experimental systems. (Trends Cardiovasc Med 1997;7:282-288). © 1997, Elsevier Science Inc.     

Assessment of aortic stiffness in marfan syndrome using two-dimensional and Doppler echocardiography

Background: Extracellular matrix remodeling in the aortic wall results in increased aortic stiffness (AoS) in Marfan syndrome (MFS). Pulsed‐wave velocity (PWV) constitutes the best indirect AoS measurement. We aimed to assess PWV in MFS patients using two‐dimensional (2D) and Doppler echocardiography. Methods: Thirty‐one MFS patients, (mean age 31 ± 14 years, 16 men) and 31 controls were examined. Blood flow was recorded in the aorta near the aortic valve and immediately after in the descending aorta with simultaneous electrocardiography. PWV was calculated by dividing the distance between the two sample volume positions (D) by the time difference (TD) between the intervals from the QRS start to the ascending and descending aortic flow onsets. B‐stiffness was also measured. Results: TD (described in “Methods” section) and, aortic arch length were significantly increased in MFS patients, P < 0.001. Thus, PWV values were significantly higher in patients when compared with controls, 7.20 m/s (5.12, 9.43) versus 4.64 m/s (3.37, 6.24), P < 0.001. B‐stiffness was also significantly increased in MFS patients; 5.15 (3.69, 7.65) versus 2.44 (1.82, 3.66), P < 0.001. Multiple regression analysis showed a positive association with MFS diagnosis and age, (P = 0.002 and 0.009, respectively). Reproducibility of PWV measurements was <5%. Conclusions: AoS was significantly higher in MFS patients as expected. Our data demonstrated that PWV measurements can be performed, in the absence of serious musculoskeletal abnormalities in MFS adults, as part of a cardiac ultrasound scan. This technique can be helpful in diagnosis and management in MFS. (Echocardiography 2011;28:29‐37)     

Hyperlipidaemia in patients with Down's syndrome.

Plasma lipid levels were measured in 20 mongoloid and 16 non-mongoloid mentally retarded subjects. Significant elevations of plasma triglyceride levels were found in patients with Down's syndrome compared with mentally retarded controls. However, no significant difference was found in plasma cholesterol, phospholipid and free fatty acid levels between the mongoloids and control subjects.     

MRI-assessed regional pulse wave velocity for predicting absence of regional aorta luminal growth in marfan syndrome

Background

In patients with Marfan syndrome (MFS), increased aortic wall stiffening may lead to progressive aortic dilatation. Aortic Pulse Wave Velocity (PWV), a marker of wall stiffness can be assessed regionally, using in-plane multi-directional velocity-encoded MRI. This study examined the diagnostic accuracy of regional PWV for prediction of regional aortic luminal growth during 2-year follow-up in MFS patients.

Methods

In twenty-one MFS patients (mean age 36 ± 15 years, 11 male) regional PWV and aortic luminal areas were assessed by 1.5 T MRI. At 2-year follow-up, the incidence of luminal growth, defined as mean luminal diameter increase > 2 mm was determined for five aortic segments (S1, ascending aorta; S2, aortic arch; S3, thoracic descending aorta, S4, supra-renal and S5, infra-renal abdominal aorta). Regional PWV at baseline was considered increased when exceeding age-related normal PWV (healthy volunteers (n = 26; mean age 30 ± 10 years, 15 male)) by two standard-errors. Sensitivity and specificity of regional PWV-testing for prediction of regional luminal growth were determined.

Results

Regional PWV at baseline was increased in 17 out of 102 segments (17%). Significant luminal growth at follow-up was reported in 14 segments (14%). The specificity of regional PWV-testing was ≥ 78% for all aortic segments, sensitivity was ≤ 33%.

Conclusions

Regional PWV was significantly increased in MFS patients as compared to healthy volunteers within similar age range, in all aortic segments except the ascending aorta. Furthermore, regional PWV-assessment has moderate to high specificity for predicting absence of regional aortic luminal growth for all aortic segments in MFS patients.     

Metabolic syndrome in Japanese patients with obstructive sleep apnea syndrome.

We investigated the prevalence of metabolic syndrome in patients with obstructive sleep apnea syndrome (OSAS) referred to a tertiary university-based medical center. A cross-sectional study of patients with a definite diagnosis of OSAS was performed using new diagnostic criteria for metabolic syndrome that were designed for the Japanese population. Clinical features and comorbidities related to metabolic syndrome were compared between 819 patients with OSAS (719 men and 100 women) and 89 control subjects without OSAS. Metabolic syndrome was significantly more common in the patients with OSAS than in the controls (49.5% vs. 22.0% for men, p < 0.01; 32.0% vs. 6.7% for women, p < 0.01). Men with OSAS (apnea-hypopnea index [AHI] > or =5/h) had a higher risk of metabolic syndrome compared with controls (odds ratio [OR]: 3.47; 95% confidence interval [CI]: 1.84-6.53). There was a significantly increased risk of metabolic syndrome in men with moderate OSAS (AHI: 15-29.9/h) (OR: 2.83; 95% CI: 1.42-5.66) and men with severe OSAS (AHI > or =30/h) (OR: 5.09; 95% CI: 2.67-9.71). Women with OSAS (AHI> or =5/h) also had an increased risk of metabolic syndrome (OR: 6.59; 95% CI: 1.47-29.38), and the risk was significantly higher in women with severe OSAS (AHI > or =30/h) (OR 14.00; 95% CI: 2.93-66.82). Risk factors for metabolic syndrome differed by gender: in men, age, body mass index (BMI), and OSAS (AHI > or =15/h) were significantly associated with metabolic syndrome, whereas, in women, BMI was the only risk factor for metabolic syndrome. The increase of metabolic syndrome in Japanese OSAS patients suggests that this patient population is burdened with multiple risk factors for cardiovascular disease.     

Thyroid function in patients with fibromyalgia syndrome.

Thyroid function was tested in 13 female patients with primary fibromyalgia syndrome (FS) and 10 healthy age matched controls by intravenous injection of 400 micrograms thyrotropin-releasing hormone (TRH). Basal thyroid hormone levels of both groups were in the normal range. However, patients with primary FS responded with a significantly lower secretion of thyrotropin and thyroid hormones to TRH, within an observation period of 2 h, and reacted with a significantly higher increase of prolactin. Total and free serum calcium and calcitonin levels were significantly lower in patients with primary FS, while both groups exhibited parathyroid hormone levels in the normal range.     

Echocardiographic findings in patients with aortitis syndrome.

Echocardiography was performed in 18 patients with the aortitis syndrome and in 20 age-matched normal volunteers. The aortic root dimension, the aortic dimension at the level of the sinotubular ridge, the aortic arch dimension, the left ventricular internal dimension, the left atrial dimension, the interventricular septal thickness, and the left ventricular posterior wall thickness were measured. All measurements, except for the left atrial dimension, were significantly greater in patients with aortitis syndrome than in the control subjects. We concluded (1) that the patients with the aortitis syndrome may have an enlarged or narrowed aorta, a dilated left ventricle and left atrium, and a thickened interventricular septum and left ventricular posterior wall; (2) that the incidence and the degree of these abnormalities depend on the presence of complications such as aortic regurgitation and arterial hypertension; and (3) that M-mode as well a cross-sectional echocardiography plays an important role in the assessment of the aorta and heart in the aortitis syndrome.