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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The effect of iron overload on left ventricular (LV) performance was studied in 60 patients with beta-thalassemia. Patients were divided into 3 groups according to the number of blood units (BU) received. Clinically, 14 patients were in advanced classes (III and IV) of congestive heart failure (CHF). LV performance was extensively studied by M-mode echocardiography, and the results were correlated to BU transfused and CHF presence. E point-septal separation, LV systolic and diastolic dimensions had greater values in CHF patients (p less than 0.0001). The percentage shortening of the internal LV diameter and the peak velocity of circumferential fiber shortening were reduced in CHF patients (p less than 0.01 and 0.0001), while the percentage thickening of the LV posterior wall (PW) and interventricular septum (IVS), were independent of CHF presence. LVPW relaxation and indices of the overall diastolic LV function had similar values in all groups. The relation of all systolic and diastolic indices to BU was low (r less than 0,6) and in most cases indifferent (p:NS). A special finding was observed in 4 CHF patients, where segmental IVS dyskinesia contrasted with a satisfactory LVPW motion. The above results indicate that CHF in beta-thalassemia is not the consequence of volume and iron overload, but that these factors are predisposing towards the development of a specific type of cardiomyopathy.
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PMID:Iron overload and left ventricular performance in beta thalassemia. 660 5

Left-ventricular (LV) function was studied in 23 patients with anemia due to beta-thalassemia, of whom seven had thalassemia intermedia and the remainder thalassemia major. Two-thirds of the patients wih thalassemia intermedia and almost all the patients with thalassemia major were in clinical congestive heart failure. Despite this, resting measurements of ventricular size and systolic ventricular function were normal, indicating high-output cardiac failure. However, effort testing showed a flat response or decrease in the LV shortening fraction in patients with thalassemia major, and serial studies showed a decrease in the shortening fraction over a 4-yr period in some patients. LV diastolic function was studied by calculating peak LV filling rate and the pattern of LV filling in early diastole. Three patient with thalassemia major showed a pattern indicating abnormal LV distension. Since LV end-diastolic dimension was increased, volume overload was present in all patients. The results indicate that the following factors contribute to the genesis of cardiac failure in beta-thalassemia: 1) diminished response of systolic ventricular performance to exercise and later at rest; 2) ventricular volume overload; and 3) abnormal ventricular distension in diastole. Although the ventricular filling suggests abnormal LV compliance, the effect of right-ventricular volume overload or a pericardial factor cannot be excluded.
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PMID:Studies of left-ventricular function in anemia due to beta-thalassemia. 714 53

Haemochromatotic cardiomyopathy is the main cause of morbidity and mortality in patients with beta thalassaemia major. Once congestive heart failure develops most patients die in a few months. Congestive heart failure was reversed and echocardiographic findings were restored to normal in a 24 year old woman with beta thalassaemia who resumed treatment with chelation therapy (desferrioxamine).
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PMID:Reversal of haemochromatotic cardiomyopathy in beta thalassaemia by chelation therapy. 778 68

We analyzed seven patients with beta-thalassemia intermedia presenting with congestive heart failure secondary to pulmonary hypertension. This condition has been recognized only recently as part of the clinical spectrum of beta-thalassemia. Our group of patients included two men and five women with the clinical picture and laboratory data typical of beta-thalassemia intermedia. The mean age was 37.7 +/- 11.4 years, mean hematocrit value was 28.5 +/- 1.8%, mean number of transfused blood units was 171 +/- 153, and mean serum ferritin levels were 4,428 +/- 2,006 ng/mL. All but one of these patients had undergone splenectomy. Common findings of the investigative procedures include the following: dilation of the main pulmonary artery and cardiac enlargement in the chest radiograph; signs of right ventricular hypertrophy in the ECG; and dilated right ventricle with good left ventricular function in the echo study. Right heart catheterization showed the pulmonary systolic pressure to range from 55 to 90 mm Hg (74.1 +/- 10.3), pulmonary diastolic pressure from 25 to 50 mm Hg (37.7 +/- 8.7), mean pressure from 35 to 60 mm Hg (49.7 +/- 7.9), and pulmonary vascular resistance from 267 to 667 dynes.s.cm-5. Pulmonary capillary wedge pressure was within the normal range of values. The pathophysiologic condition of pulmonary hypertension in these patients is most probably associated with beta-thalassemia. There are mechanisms that increase cardiac output and at the same time restrict the pulmonary vascular bed. The results of this study imply that treatment decisions should be reconsidered for such patients.
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PMID:Pulmonary hypertension and right heart failure in patients with beta-thalassemia intermedia. 749 12

The pattern of left ventricular filling was assessed by Doppler echocardiography in 38 adult beta-thalassaemia major patients; 28 with normal (age 25.2 +/- 5.3 years) and 10 with abnormal (age 24.5 +/- 8.8 years) left ventricular systolic function. The findings were compared with those obtained from 38 age and sex matched normal individuals. In patients with normal left ventricular systolic function, peak flow velocity in early diastole was higher than in the controls (94 +/- 16 vs 79 +/- 12 cm.s-1, P < 0.001). The peak flow velocity in late diastole was also greater (60 +/- 18 vs 46 +/- 9 cm.s-1, P < 0.001), but the ratio between the early and late (atrial) peaks was approximately the same in both groups (1.74 +/- 0.72 vs 1.70 +/- 0.30). There was no difference in deceleration time and rate between the two groups (152 +/- 32 vs 151 +/- 21 ms and 504 +/- 93 vs 508 +/- 115 cm.s-2 respectively). None of the patients had atrial predominant left ventricular inflow pattern. In patients with congestive heart failure the peak flow velocity in early diastole was greater than in the controls (96 +/- 10 vs 79 +/- 2 cm.s-1 P < 0.001) while in late diastole it was smaller (39 +/- 6 vs 44 +/- 2 cm.s-1, P < 0.05). The ratio between the early and late peaks was greater in the patients than in the controls (2.5 +/- 0.35 vs 1.8 +/- 0.08, P < 0.001).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Left ventricular filling pattern in beta-thalassaemia major--a Doppler echocardiographic study. 845 54

To learn whether fetal congestive heart failure causes a characteristic tissue iron storage pattern, we selected 15 neonatal autopsy cases of hydrops fetalis in which both the clinical and gross autopsy findings suggested intrauterine congestive heart failure. The latter appeared to be due to functional causes in 10 (3 nonhemolytic anemia, 4 cardiac dysrhythmia, 3 dilated cardiomyopathy) and was associated with cardiac malformation in 5. We graded the amount of hepatocellular siderosis, reticuloendothelial siderosis, and renal tubular siderosis in Perls-stained microscopic sections of liver, spleen, and kidney and compared the iron storage pattern with that in 15 normally developed neonatal autopsy controls (4 preterm, 11 term) and a further 7 with hemolytic anemia (5 alpha-thalassemia, 2 parvovirus B19 infection). Liver cell siderosis was absent in the three cases with nonhemolytic anemia. It was increased in 11 of the remaining 12 cases, as in hemolytic anemia controls. Among the five cardiac malformation cases, three had proximal renal tubular siderosis (as in hemolytic anemia controls) attributed to turbulent blood flow through the heart. Among the five, hydrops appeared to be due to prenatal closure of the foramen ovale in one and to prenatal constriction of the ductus arteriosus in another. In one of the five, and despite complex malformation of the heart, hydrops appeared to be due to complete heart block. We concluded that, although clinical information and morphologic assessment of the heart were basic to identifying a cardiac cause of fetal hydrops, histologic assessment of the pattern of iron storage helped confirm the pathologic diagnosis. Analysis of the pathologic findings led to a scheme for categorizing cardiogenic fetal hydrops.
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PMID:Tissue iron storage patterns in fetal hydrops associated with congestive heart failure. 902 54

Growth failure is commonly described in polytransfused thalassaemia major patients (Th) with or without growth hormone (GH) releasing hormone-GH axis impairment. We have investigated the efficacy of short-term recombinant GH (rhGH) therapy (Saizen [Serono] 0.1 IU/kg/day 6 evenings/week administered s.c. for 12 months) on growth and predicted final height in 28 (19M, 9F) regularly transfused Th with growth deficiency (aged 14.8 +/- 2.0 yr) on long term desferrioxamine s.c. therapy. All Th had no evidence of congestive heart failure, hypothyroidism or impaired glucose tolerance; in all patients the GH peak (evaluated during both insulin and clonidine test) was < or = 20 mIU/l; hypergonadotropic hypogonadism was excluded in Th with delayed puberty. At the start of therapy height age (HA)/bone age (BA) ratio was 0.92 +/- 0.12. Bone age delay was positively correlated to chronological age (CA), serum ferritin levels (mean of the last three years), the age at the start of chelation therapy, growth velocity calculated for CA during the last year; a positive correlation was also found between circulating IGF-I levels and age at the start of chelation therapy. After 1 year on rhGH therapy there was a significant increase of height calculated for CA (not for BA), of growth velocity calculated for both CA and BA and of circulating IGF-I levels; the HA variation/BA variation ratio was 1.85 +/- 1.71, without any significant difference between predicted final height at the start (-1.08 +/- 1.28 SDS) and at the end of rhGH therapy (-0.88 +/- 1.13). The variation of height calculated for CA was positively correlated to both CA and growth velocity during the last year before rhGH therapy (calculated for CA) and negatively to the height at the start (calculated for CA). There were no side effects and haematological parameters did not show significant changes. In conclusion, our data, obtained in a relatively large group of Th, confirm the emerging results of short-term (12 months) rhGH therapy on growth, as shown by the increase of both growth velocity and height calculated for CA. With regard to final height, although the mean variation of HA/variation of BA ratio was 1.85, no significant increase of the predicted final height was found between the start and the end of rhGH therapy. We are evaluating the effect of long-term rhGH therapy on growth in these patients.
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PMID:Short-term therapy with recombinant growth hormone in polytransfused thalassaemia major patients with growth deficiency. 1009 Nov 55

We report a case of pulmonary hypertension (PH) in a 35-year old patient with beta-thalassemia major; he had commenced blood transfusions after the age of 4 years and had been splenectomised at the age of 6 years. PH clinical presentation was not uncommon. Hemodynamic study revealed precapillary PH with high cardiac output; vasodilators agents led to significant pulmonary responsiveness. In beta-thalassemia, whereas congestive heart failure is common and due to cardiac hemosiderin deposition, PH appears to be non rare but its etiopathogenic mechanism remain unclear and probably non univoqual. Hypoxemia as well as hemodynamic changes related to chronic anemia including increased pulmonary flow might play an important role. Management should include blood transfusions to correct anemia, the indication and the choice of vasodilator agents need to be evaluated.
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PMID:[Pulmonary hypertension in patient with beta-thalassemia major]. 1095 65

Cardiac complications in 110 patients (mean age, 32.5 +/- 11.4 years) with thalassemia intermedia (TI) were studied. Sixty-seven (60.9%) of them had not been transfused or were minimally transfused (group A). The rest had started transfusions after the age of 5 years (mean, 15.1 +/- 10.1 years), initially on demand and later more frequently (group B). Overall mean hemoglobin and ferritin levels were 9.1 +/- 1.1 g/dL and 1657 +/- 1477 ng/mL, respectively. Seventy-six healthy controls were also studied. The investigation included thorough history taking, clinical examination, electrocardiography, chest radiograph, and full resting echocardiography. Of 110 patients, 6 (5.4%) had congestive heart failure (CHF), and 9 (8.1%) had a history of acute pericarditis. Echocardiography showed pericardial thickening, with or without effusion, in 34.5% of the patients. Valvular involvement included leaflet thickening (48.1%), endocardial calcification (20.9%), and left-sided valve regurgitation (aortic, 15.4%; mitral, 47.2%). All patients had normal left ventricular contractility (fractional shortening, 0.43 +/- 0.05), and high cardiac output (CO; 9.34 +/- 2.28 L/min). Pulmonary hypertension (PHT), defined as Doppler peak systolic tricuspid gradient greater than 30 mm Hg, developed in 65 patients (59.1%). PHT correlated positively with age and CO and did not differ significantly between groups. Cardiac catheterization in the 6 patients with CHF revealed severe PHT, increased pulmonary resistance (PVR), and normal capillary wedge pressure. It was concluded that in patients with TI, the heart is primarily affected by PHT, which is the leading cause of CHF. High CO resulting from chronic tissue hypoxia and increased PVR are the main contributing factors. Doppler tricuspid gradient measurement should be considered, in addition to other factors, when determining the value of transfusion therapy for patients with TI. (Blood. 2001;97:3411-3416)
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PMID:Cardiac involvement in thalassemia intermedia: a multicenter study. 1136 31

Heart failure remains the main cause of death in beta-thalassemia despite the progress that has been made. Myocardial iron deposition alone does not affect left ventricular relaxation but directly causes left ventricular myocardial restriction with considerably elevated pulmonary pressure. This leads to symptoms and signs of predominantly right-sided heart failure, which is usually observed in elderly and severely hemosiderotic populations. Left ventricular systolic dysfunction and failure, which occurs in younger, less hemosiderotic populations, seems to be multifactorial in etiology. Apart from iron loading, immunogenetic risk factors trigger the mechanisms of left-sided heart failure development in the context of dilated-type cardiomyopathy. (c)2001 CHF, Inc.
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PMID:Heart failure in beta-thalassemia. 1182 76


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