Reduced peripheral blood superoxide dismutase 2 expression in sickle cell disease.

Sickle cell disease (SCD), a hereditary form of chronic hemolytic anemia, is characterized by acute vascular occlusion and chronic complications as pulmonary hypertension (PH), a hallmark of higher mortality. This study aimed to determine peripheral blood expression of superoxide dismutase 2 (SOD2), a major mitochondrial antioxidant enzyme in SCD patients on the mRNA level and compared it with SOD2 expression in healthy individuals. It also aimed to detect possible differences in SOD2 expression among patients with/without specific SCD complications and to detect possible correlations with patient laboratory parameters. SOD2 mRNA levels were significantly lower in SCD patients in comparison with controls and correlated with red blood cell count, reticulocyte count, platelet count, C-reactive protein, ferritin, and brain natriuretic peptide values. SCD patients with echocardiographic indications of PH featured significantly reduced SOD2 expression in comparison with patients without such indications. Consequently, SOD2 expression emerges as a potential biomarker of PH in SCD being a link among hemolysis, inflammation, iron overload, oxidative stress, and SCD cardiopathy.

Pulse wave velocity and cardiac autonomic function in type 2 diabetes mellitus.

BACKGROUND: Increased carotid-femoral pulse wave velocity (PWV) has been associated with incident cardiovascular disease, independently of traditional risk factors. Cardiac autonomic dysfunction is a common complication of diabetes and has been associated with reduced aortic distensibility. However, the association of cardiac autonomic dysfunction with PWV is not known. In this study we examined the association between cardiac autonomic function and PWV in subjects with type 2 diabetes mellitus. METHODS: A total of 290 patients with type 2 diabetes were examined. PWV was measured at the carotid-femoral segment with applanation tonometry. Central mean arterial blood pressure (MBP) was determined by the same apparatus. Participants were classified as having normal (n = 193) or abnormal (n = 97) PWV values using age-corrected values. Cardiac autonomic nervous system activity was determined by measurement of parameters of heart rate variability (HRV). RESULTS: Subjects with abnormal PWV were older, had higher arterial blood pressure and higher heart rate than those with normal PWV. Most of the values of HRV were significantly lower in subjects with abnormal than in those with normal PWV. Multivariate analysis, after controlling for various confounding factors, demonstrated that abnormal PWV was associated independently only with peripheral MBP [odds ratio (OR) 1.049, 95% confidence intervals (CI) 1.015-1.085, P = 0.005], central MBP (OR 1.052, 95% CI 1.016-1.088, P = 0.004), log total power (OR 0.490, 95% CI 0.258-0.932, P = 0.030) and log high frequency power (OR 0.546, 95% CI 0.301-0.991, P = 0.047). CONCLUSIONS: In subjects with type 2 diabetes, arterial blood pressure and impaired cardiac autonomic function is associated independently with abnormal PWV.

Cardiotrophin-1 in Asymptomatic Hypertensive Patients With Mild Diastolic Dysfunction: Potential Prognostic Value in Early Stages of Hypertensive Heart Disease.

BACKGROUND: Regardless of the advancements in modern technology and treatment options, heart failure (HF) exhibits impervious mortality and morbidity rates. Arterial hypertension poses one of the greatest risks for developing HF, yet the exact pathophysiological path and changes that lead from isolated hypertension to HF are still unclear. Cardiotrophin-1 (CT-1) serves as a promising prognostic biomarker for the onset of HF in hypertensive patients. The aim of this study was to investigate whether CT-1 levels are elevated in a selected group of asymptomatic hypertensive patients. METHODS: In a selected cohort of 40 asymptomatic patients with early diastolic dysfunction (grade I), without any signs of increased filling pressures in the left ventricle, as well as 20 healthy individuals, the levels of CT-1 brain natriuretic peptide (BNP) along with various echocardiographic parameters were evaluated. RESULTS: The mean age of the hypertensive patients was 56 ± 5 years and 52± 3.5 years for the normotensive controls. The hypertensive group exhibited higher levels of CT-1, which was not affected by left ventricular hypertrophy. Notably, in patients with normal E/E' < 8 (n = 30), CT-1 levels were 1165 ± 471 pg/ml compared to 2069 ± 576 pg/ml in patients with marginal E/E' > 8 and <14 (n = 10), p = 0.001. CONCLUSIONS: Our study demonstrated elevated CT-1 levels in a cohort of asymptomatic hypertensive patients, exhibiting mild diastolic dysfunction. These findings are suggestive of the potentially prognostic value of this particular biomarker in the early stages of hypertensive heart disease.

Impaired distensibility of ascending aorta in patients with HIV infection.

BACKGROUND: Our aim was to investigate the aortic distensibility (AD) of the ascending aorta and carotid artery intima-media thickness (c-IMT) in HIV-infected patients compared to healthy controls. METHODS: One hundred and five HIV-infected patients (86 males [82%], mean age 41 ± 0.92 years), and 124 age and sex matched HIV-1 uninfected controls (104 males [84%], mean age 39.2 ± 1.03 years) were evaluated by high-resolution ultrasonography to determine AD and c-IMT. For all patients and controls clinical and laboratory factors associated with atherosclerosis were recorded. RESULTS: HIV- infected patients had reduced AD compared to controls: 2.2 ± 0.01 vs. 2.62 ± 0.01 10(-6) cm(2) dyn(-1), respectively (p < 0.001). No difference was found in c-IMT between the two groups. In multiadjusted analysis, HIV infection was independently associated with decreased distensibility (beta -0.45, p < 0.001). Analysis among HIV-infected patients showed that patients exposed to HAART had decreased AD compared to HAART-naïve patients [mean (SD): 2.18(0.02) vs. 2.28(0.03) 10(-6) cm(2) dyn(-1), p = 0.01]. In multiadjusted analysis, increasing age and exposure to HAART were independently associated with decreased AD. CONCLUSION: HIV infection is independently associated with decreased distensibility of the ascending aorta, a marker of subclinical atherosclerosis. Increasing age and duration of exposure to HAART are factors further contributing to decreased AD.

Association of cardiovascular factors in diabetic patients with non-alcoholic fatty liver disease.

PURPOSE: To evaluate the association between severity of hepatic steatosis/fibrosis with clinical, laboratory, and echocardiographic characteristics, including visceral obesity and type 2 diabetes mellitus (T2DM)-related micro- and macrovascular complications in diabetic patients with non-alcoholic fatty liver disease (NAFLD). METHODS: We studied 60 consecutive NAFLD outpatients with T2DM, recording several demographic and clinical characteristics, trunk and visceral fat, cardiac ultrasound, and micro- and macrovascular complications of diabetes mellitus including microalbuminuria, diabetic peripheral neuropathy, peripheral vascular disease, and cardiac autonomic function. Severity of steatosis and fibrosis was evaluated with abdominal ultrasound and liver stiffness measurements, respectively. RESULTS: Twenty-three (41%) of the patients had grade 1 steatosis and mean liver stiffness was 7.5 ± 3 kPa. After applying Bonferroni correction for multiple comparisons, ferritin concentration was the only factor significantly different between patients with mild (grade 1) compared to those with moderate/severe (grade 2/3) steatosis and showed good discriminative ability for the presence of moderate/severe steatosis (AUC: 0.74, sensitivity 88%, specificity 48%, PPV 74%, and NPV 72%). In addition, waist circumference was the only factor associated with the presence of significant fibrosis (≥ F2) with very good discriminative ability (AUC: 0.77, sensitivity 89%, specificity 45%, PPV 75%, and NPV 70%). CONCLUSION: Specific clinical and laboratory characteristics, which may be determined via widely accessible and noninvasive techniques, were associated with severity of diabetics NAFLD, taking into account echocardiographic characteristics, visceral obesity, and T2DM-related systemic complications.

Portopulmonary hypertension and serum endothelin levels in hospitalized patients with cirrhosis.

BACKGROUND: Cirrhosis is associated with several extrahepatic manifestations including portopulmonary hypertension (PPHT). Recent data suggest that endothelins (ETs) are related to the pathophysiology of PPHT. The study aimed to measure serum ET levels in hospitalized cirrhotic patients and to determine their association with PPHT and patient outcome. METHODS: Fifty-seven cirrhotic patients [43 males; median age 58 (28-87) years] underwent Doppler echocardiography. Patients with systolic pulmonary arterial pressure ≥40 mmHg and pulmonary acceleration time <100 ms were deemed to have PPHT. ET-1, 2, and 3 serum levels were measured with an ELISA assay. All-cause mortality was recorded over a median period of 24 months. RESULTS: Nine out of 57 patients (15.8%) had PPHT. Among various clinical variables, only autoimmune hepatitis was associated with PPHT (OR=11.5; 95% CI, 1.58-83.4; P=0.01). ET-1 levels [9.1 (1.6-20.7) vs 2.5 (1.4-9.2) pg/mL, P=0.02] and the ET-1/ET-3 ratio [4.73 (0.9-22.4) vs 1.6 (0.3-10.7), P=0.02] were significantly higher in patients with PPHT than in those without. ET-2 and ET-3 levels did not differ between the two groups. There was no difference in survival between the two groups, although ET-1 levels were associated with an adverse outcome in Cox regression analysis (HR=1.11; 95% CI, 1.02-1.22; P=0.02 per unit increase in ET-1). CONCLUSION: Our data suggest that ET-1 and the ET-1/ET-3 ratio are elevated in patients with PPHT and that ET-1 is associated with a poor outcome irrespective of PPHT.

The impact of metabolic syndrome on left ventricular myocardial performance.

BACKGROUND: Metabolic syndrome (MetS) is common and is associated with increased cardiovascular morbidity and mortality. Recent prospective studies suggested that MetS is associated with increased risk of heart failure. In the present cross-sectional study, we examined the association between left ventricular myocardial performance with MetS. MATERIALS AND METHODS: A total of 550 non-diabetic subjects, 275 without MetS and 275 with MetS, matched for gender, age and body mass index and free of clinically apparent macrovascular disease were studied. MetS was diagnosed using the NCEP-ATP III criteria. Left ventricular myocardial performance was assessed using the Tei index. RESULTS: Both men and women with MetS had higher values of the Tei index, indicating worse myocardial performance, in comparison with those without MetS (p < 0.001). Participants with a cluster of more components of the MetS had higher Tei index values than those with fewer components of the MetS. In addition, among normotensive subjects, those with MetS had significantly higher Tei index values than subjects without MetS. Multivariate linear regression analysis, after adjustment for age and body mass index, demonstrated that MetS status and from the individual components of the MetS, high fasting blood glucose levels, higher blood pressure, low high density lipoprotein levels and high waist circumference were associated with worse myocardial performance. CONCLUSION: MetS is associated with subclinical myocardial dysfunction in both men and women. Strategies to reduce the cardiovascular burden and the risk of heart failure associated with MetS should aim at prevention of the MetS and its related conditions.

Twenty-four-hour ambulatory central blood pressure in adolescents and young adults: association with peripheral blood pressure and preclinical organ damage.

OBJECTIVES: To investigate the relationship of 24-h ambulatory central blood pressure (ABP) with preclinical organ damage in youth. METHODS: Individuals aged 10-25 years referred for suspected hypertension and healthy volunteers had simultaneous 24-h peripheral and central ABP monitoring (Mobil-O-Graph 24 h PWA). Central BP was calculated using two different calibration methods (c1 using oscillometric systolic/diastolic ABP; c2 using mean arterial/diastolic ABP). Their association with preclinical organ damage [left ventricular mass index (LVMI), carotid intima-media thickness (IMT), 24-h pulse wave velocity (PWV)] was investigated. RESULTS: A total of 136 participants were analyzed (age 17.9 ±â€Š4.7 years, 54% adolescents, 77% males, 34% with elevated ABP). Twenty-four-hour peripheral systolic ABP (pSBP) was higher than c1 systolic ABP (c1SBP) by 14.1 ±â€Š3.7 mmHg, but lower than c2SBP by 6.5 ±â€Š7.6 mmHg (all P < 0.01). c2SBP quartiles provided better stratification of preclinical organ damage than pSBP. Both c1SBP/c2SBP were significantly associated with LVMI (r = 0.35/0.33) and IMT (r = 0.23/0.42; all P < 0.01; primary endpoint). These associations were stronger for c2SBP compared with those of pSBP in adolescents but not in adults. PWV was more closely associated with pSBP than c2SBP (r = 0.94/0.83, P < 0.01). LVMI variation was best determined by c2SBP in adolescents and pSBP in adults; IMT by c2SBP and PWV by pSBP in both subgroups. CONCLUSION: These findings suggest that in young individuals, the calibration method for 24-h central ABP plays a major role in determining its association with preclinical organ damage. In adolescents, 24-h central ABP appears to be more strongly associated with early cardiac and carotid damage than peripheral BP.

Home and ambulatory blood pressure monitoring in children, adolescents and young adults: comparison, diagnostic agreement and association with preclinical organ damage.

OBJECTIVES: To compare the association of home (HBP), ambulatory (ABP) and office blood pressure (OBP) measurements with preclinical organ damage in young individuals. METHODS: Individuals referred for elevated blood pressure and healthy volunteers aged 6-25 years were evaluated with OBP (2-3 visits), 7-day HBP and 24-h ABP monitoring. Organ damage was assessed by echocardiographic left ventricular mass index (LVMI), carotid ultrasonography [intima--media thickness (IMT)] and pulse wave velocity (PWV) using piezo-electronic or oscillometric technique. RESULTS: Analysis included 251 individuals (mean age 14 ±â€Š3.9 years, 70.9% men: 31.1% children, 54.6% adolescents, 14.3% young adults) of whom 189 had LVMI, 123 IMT and 198 PWV measurements. Office, ambulatory and home hypertension was diagnosed in 29.5, 27.1 and 26.3% of participants. The agreement of OBP with ABP was 74.5% (kappa 0.37) and HBP 76.1% (kappa 0.41), with closer agreement between HBP and ABP (84.9%, kappa 0.61). LVMI gave comparable correlations with systolic OBP, 24-h ABP and HBP (r = 0.31/0.31/0.30, all P < 0.01). The same was the case for IMT (0.33/0.32/0.37, all P < 0.01) and piezo-electronic PWV (0.55/0.53/0.52, all P < 0.01), whereas oscillometric PWV gave stronger correlations with OBP than ABP or HBP. In linear regression analysis, the variation of LVMI was determined by night-time ABP, of IMT by HBP and of PWV by OBP and 24-h ABP. CONCLUSION: These data suggest that in young individuals, target organ damage is mainly determined by out-of-office rather than office BP. Home and ambulatory BP give comparable associations with preclinical organ damage.

Cardiac involvement in sickle beta-thalassemia.

Cardiovascular involvement is a leading cause of mortality and morbidity in patients with inherited hemoglobinopathies, but it has not been adequately assessed in sickle beta-thalassemia. We evaluated 115 sickle beta-thalassemia patients, aged 34 +/- 14 years, along with 50 healthy controls, by resting echocardiography. Patients with systolic left ventricular (LV) dysfunction or severe pulmonary hypertension (PHT) also underwent left and right cardiac catheterization and cardiac magnetic resonance imaging (CMR). Left and right chamber dimensions, LV mass, and cardiac index were significantly higher in patients compared to controls (p < 0.001 in most cases). Three patients (2.9%) had reduced LV ejection fraction (<55%); mean LV ejection fraction was significantly lower in patients (p < 0.001). Left and right ventricular systolic tissue Doppler indices and LV diastolic tissue Doppler indices were also impaired in patients. All three patients with systolic LV dysfunction had normal coronary arteries and mild myocardial iron load (CMR T2* values, 18-25 ms). Systolic pulmonary artery pressure was significantly higher in patients compared to controls (p = 0.002); PHT was present in 28 patients (27%), while severe PHT in three (2.9%). In three patients with severe PHT, only one had impaired LV ejection fraction and increased pulmonary wedge pressure. Overall, three patients (2.9%) had a history of heart failure, two with systolic LV dysfunction, and one with severe PHT. Cardiac involvement in sickle beta-thalassemia concerns biventricular dilatation and dysfunction along with PHT, leading to congestive heart failure.

Late recurrence of pulmonic valve endocarditis in an adult patient with ventricular septal defect: a case report.

A 54-year-old female patient with a congenital ventricular septal defect (VSD) was admitted to the authors' hospital for an investigation of mild fever of four months' duration. Her history revealed pulmonary valve endocarditis contracted 18 years previously. Echocardiography revealed an echogenic mobile mass on the pulmonic valve that caused mild regurgitation, while blood cultures were positive for Streptococcus viridans. The patient was administered ceftriaxone and gentamycin, and had an uneventful clinical course. She was advised to undergo surgical closure of the VSD in order to avoid any recurrence of endocarditis.

Metabolic syndrome is not associated with reduction in aortic distensibility in subjects with type 2 diabetes mellitus.

BACKGROUND: Aortic distensibility (AD) is a marker of the elastic properties of the aorta. Reduction of AD occurs early in subjects with type 2 diabetes mellitus (T2DM) and it is associated with subclinical generalized atherosclerosis. Metabolic syndrome (MetS) is common in subjects with T2DM and predicts cardiovascular morbidity and mortality. This study examined the potential relationship between MetS and AD in a cohort of subjects with T2DM. METHODS AND RESULTS: A total of 210 subjects with T2DM were studied. MetS was diagnosed using the NCEP/ATP-III criteria. AD was assessed non-invasively by ultrasonography. The prevalence of MetS was 64.8%. AD was not significantly different between subjects with and without MetS (1.80 +/- 0.54 vs. 1.84 +/- 0.53 10-6 dyn-1 cm2, p = 0.55). Univariate linear regression analysis showed that AD was associated positively with male sex (p = 0.02) as well as glomerular filtration rate (p < 0.001), and negatively with age (p = 0.04), history of hypertension (p = 0.001), as well as duration of diabetes (p < 0.001). After multivariate adjustment, AD was associated independently and significantly only with age (p = 0.02), duration of diabetes p < 0.001), and history of hypertension (p = 0.004); no significant relationship was found with MetS status, the sum of the components of the MetS or the individual components-besides hypertension-of the MetS. CONCLUSION: In subjects with T2DM, MetS status per se is not associated with reduction of AD. In addition, it was shown that besides ageing, duration of glycemia was a strong predictor of AD. From the components of the MetS only hypertension was associated with reduction of the elastic properties of the aorta.

Aortic dissection and third-degree atrioventricular block in a patient with a hypertensive crisis.

A 55-year-old man with a history of uncontrolled hypertension was admitted because of an episode of severely elevated blood pressure. An electrocardiogram revealed complete atrioventricular block while imaging showed a dissecting aneurysm of the descending thoracic and abdominal aorta, type B according to the Stanford classification. Laboratory tests revealed significant increases in serum C-reactive protein. Coronary arteriography was performed and was negative for coronary artery disease. A VDD pacemaker was placed, and a combination of 4 antihypertensive agents was used as treatment. Type B aortic dissection may present with a wide range of manifestations. The authors suggest that measurement of C-reactive protein may be used in hypertensive patients to help reflect vascular injury and its degree, progression, and prognosis. Disorders of intraventricular conductivity are rarely seen in both types of dissection of the aorta (type A, B). Atrioventricular conductivity disorders that result in complete atrioventricular block have been reported only in patients with type A dissection (before the bifurcation of the subclavian artery). In this particular case, however, the authors diagnosed an atrioventricular conductivity disorder causing atrioventricular block in a patient with type B dissection. Consequently, the authors speculate that myocardial fibrosis, as a result of long-standing hypertension, could be the main pathogenetic mechanism leading to the development of such phenomena, resulting from a potential expanding of the fibrotic process to the atrioventricular conduction system.

Home blood pressure is as reliable as ambulatory blood pressure in predicting target-organ damage in hypertension.

BACKGROUND: Our objective was to assess the value of home blood pressure (BP) monitoring in comparison to office BP measurements and ambulatory monitoring in predicting hypertension-induced target-organ damage. METHODS: Sixty-eight untreated patients with hypertension with at least two routine prestudy office visits were included (mean age, 48.6 +/- 9.1 [SD] years; 50 men). Office BP was measured in two study visits, home BP was measured for 6 workdays, and ambulatory BP was monitored for 24 h. All BP measurements were obtained using validated electronic devices. Target-organ damage was assessed by measuring the echocardiographic left-ventricular mass index (LVMI), urinary albumin excretion rate (AER) in two overnight urine collections, and carotid-femoral pulse-wave velocity (PWV) (Complior device; Colson, Garges-les-Gonesse, Paris, France). RESULTS: The correlation coefficients of LVMI with office BP were 0.24/0.15 (systolic/diastolic), with home BP 0.35/0.21 (systolic, P < .01), and with 24-h ambulatory BP 0.23/0.19, awake 0.21/0.16, and asleep 0.28/0.26 (asleep, both P < .05). The correlation coefficients of AER with office BP were 0.24/0.31 (diastolic, P < .05), with home BP 0.28/0.26 (both P < .05), and with 24-h ambulatory BP 0.25/0.24, awake 0.24/0.25 (diastolic, P < .05), and asleep 0.26/0.18 (systolic, P < .05). There was a trend for negative correlations between PWV and diastolic BP measurements (not significant). In multiple-regression models assessing independent predictors of each of the three indices of target-organ damage, systolic home BP and age were the only independent predictors of increased LVMI that reached borderline statistical significance. CONCLUSIONS: These data suggest that home BP is as reliable as ambulatory monitoring in predicting hypertension-induced target-organ damage, and is superior to carefully taken office measurements.

Components of the metabolic syndrome, but not the metabolic syndrome per se, are associated with aortic distensibility.

BACKGROUND AND AIM: Reduction in aortic distensibility occurs early in the atherosclerosis process and carries a poor prognosis. Metabolic syndrome is common and it is associated with increased cardiovascular mortality. The aim of this cross-sectional study was to investigate the association between metabolic syndrome and aortic distensibility. METHODS AND RESULTS: A total of 135 subjects without diabetes were studied. Metabolic syndrome was diagnosed using the NCEP-ATP-III criteria. Aortic distensibility was assessed non-invasively by ultrasonography. Multivariate analysis, after controlling for the components of the metabolic syndrome, and, additionally, for body mass index, pulse pressure, presence of coronary artery disease, use of statins and use of angiotensin converting enzyme inhibitors and/or angiotensin receptor blockers, demonstrated an independent association between aortic distensibility and age (p<0.001), systolic blood pressure, (p=0.02), diastolic blood pressure (p=0.005), and history of hypertension (p<0.001), but not metabolic syndrome status. Moreover, there was a suggestive association with albumin-to-creatinine ratio (p=0.06). CONCLUSIONS: Metabolic syndrome per se is not associated with reduction in aortic distensibility. From the components of the metabolic syndrome, only blood pressure is a strong predictor of aortic distensibility. In addition, ageing and higher values of albumin-to-creatinine ratio are also associated with low aortic distensibility.

Cardiac Autonomic Neuropathy Predicts All-Cause and Cardiovascular Mortality in Patients With End-Stage Renal Failure: A 5-Year Prospective Study.

INTRODUCTION: Chronic renal disease is associated with increased cardiovascular (CV) mortality. Cardiac autonomic neuropathy (CAN) is predictive of mortality for diseases that affect the autonomic nervous system. We prospectively evaluated the prognostic value of indexes of left ventricular (LV) function and CAN in all-cause and CV mortality of patients with end-stage renal failure (ESRF). METHODS: A total of 133 patients with ESRF were recruited. LV function was evaluated by echocardiography, whereas cardiac autonomic function was assessed using the battery of the 4 standardized tests proposed by Ewing. RESULTS: A total of 123 of 133 (92.5%) patients completed the study and were followed for a mean of 4.9 ± 2.6 years. Mean LV ejection fraction (LVEF) was 50.9 ± 6.9%, whereas 70 (57.9%) patients had CAN. Sixty-nine all-cause and 36 CV deaths were recorded. The survival rates at 3, 5, and 7 years were 77.2%, 57.4%, and 33.7%, respectively. Multivariate analysis after adjustment for waist circumference, current smoking, history of diabetes, and coronary artery disease demonstrated that the only independent predictors of all-cause mortality during follow-up were age, serum triglycerides, LVEF, and presence of CAN. Competing risk regression analysis, after adjusting for waist circumference, coronary heart disease, serum glucose, and triglycerides, indicated that age and presence of CAN were independent risk factors for CV mortality. DISCUSSION: Age and presence of CAN are independent predictors of all-cause and CV mortality in patients with ESRF. The functionality of the cardiac autonomic nervous system activity can be used for the risk stratification in patients with ESRF.

Hypereosinophilic Syndrome as a Rare Cause of Reversible Biventricular Heart Failure.

Hypereosinophilic syndrome is a rare entity that can develop secondary to overproduction of eosinophilopoietic cytokines or as idiopathic disease. Cardiac involvement, which occurs often, is divided into 3 stages, the latter of which is nonreversible and leads to severe heart failure. Early detection and treatment of the syndrome is essential. For this reason, genetic testing for the FIP1L1-PDGFRA fusion gene has recently been added to the diagnostic algorithm. Patients with this mutation are at increased risk for the development of cardiac involvement and typically respond to treatment with the tyrosine kinase inhibitor imatinib mesylate.

Coexistence of anomalous origin of the coronary arteries and severe aortic regurgitation in Marfan syndrome.

A case report of abnormal origin of the left and right coronary arteries from the right sinus of valsalva with severe aortic regurgitation in Marfan syndrome is presented in this paper.

Thalassemia heart disease: a comparative evaluation of thalassemia major and thalassemia intermedia.

BACKGROUND: Heart disease represents the main determinant of survival in beta-thalassemia, but its particular features in the two clinical forms of the disease, thalassemia major (TM) and thalassemia intermedia (TI), are not completely clarified. METHODS: We compared clinical and echocardiographic global parameters in 131 TM patients who received regular chelation transfusions and were highly compliant with treatment (mean age, 28 +/- 6 years [+/- SD]), and 74 age-matched, TI patients who did not receive chelation transfusions. RESULTS: Congestive heart failure was encountered in five patients with TM (3.8%; age range, 25 to 29 years) and in two patients with TI (2.7%; age range, 37 to 40 years). Systolic left ventricular (LV) dysfunction (ejection fraction < 55% or shortening fraction < 35%) was only encountered in patients with TM (8.4%). Considerable pulmonary hypertension (systolic tricuspid gradient > 35 mm Hg) was only present in TI (23.0%). In the remaining patients without evident heart disease, cardiac dimensions, LV mass, LV shortening and ejection fractions, and cardiac output were significantly higher in patients with TI. LV afterload was higher in patients with TM. LV diastolic early transmitral diastolic peak flow velocity (E)/late transmitral diastolic peak flow velocity (A) ratio was also higher in TM. Systolic and mean pulmonary artery pressures and total pulmonary resistance were higher in both young and old TI patients. CONCLUSION: Regular lifelong transfusion and chelation therapy in TM prevented premature heart disease and pulmonary hypertension, although LV dysfunction still occurred and led to heart failure. The absence of regular therapy in TI, in contrast, preserved systolic LV function but allowed pulmonary hypertension development, which also led to heart failure, starting within the fourth decade of life, a decade later compared to TM.

Reversible dilated cardiomyopathy associated with amphotericin B treatment.

We report two patients, who developed dilated cardiomyopathy and subsequent congestive heart failure after treatment with amphotericin B (AmB). The echocardiographic findings and the symptoms of heart failure resolved after the discontinuation of the drug. The clinical data from our cases and two similar cases reported in the literature suggest that the presence of other factors predisposing to cardiac dysfunction may facilitate the occurrence of this rare side effect.