ABSTRACT
Infantile-onset Pompe disease is a rare genetic and lethal disorder which is caused by the lack of acid alpha-glucosidase activity [GAA]. The aim of our study was to identify the demographic and clinical characteristics, and natural history of these patients. In this retrospective study, clinical file of 15 patients diagnosed with infantile-onset Pompe disease whose symptoms started before the age of 12 months were studied. Diagnosis was based on clinical history, physical examination and diagnostic parameters in chest X-ray, echocardiogram, electrocardiogram and biochemical tests after rule out the other metabolic and neuromuscular disorders. Sixty percent of the patients were male and 40% were female. The mean age at the onset of symptoms was 78 days [range: 3-150 days]. Most frequent clinical and paraclinical symptoms were cardiomegaly, hypotonia, hyporeflexia, macroglossia, failure to thrive, hepatomegaly, and feeding problems, respectively. The mean age at the time of death was 5.96 months [range: 4-8 months], and all patients died before one year of age. Muscle enzymes including AST, ALT, LDH, and CPK were elevated in all patients. Due to the lack of availability, enzyme replacement therapy was not possible for any patient. The study showed that despite the supportive measures and no specific treatment, the clinical course is not significantly different with similar studies and the overall prognosis of this form of disease is very poor and disappointing
ABSTRACT
Heart disease is the main cause of mortality and morbidity in patients with beta thalassemia, rendering its early diagnosis vital. We studied and compared echocardiographic findings in patients with beta thalassemia major, patients with beta thalassemia intermedia, and a control group. Eighty asymptomatic patients with thalassemia major and 22 asymptomatic cases with thalassemia intermedia [8-25 years old] were selected from those referredto All Asghar Hospital [Zahedan-Iran] between June 2008 and June 2009. Additionally, 80 healthy individuals within the same age and sex groups were used as controls. All the individuals underwent echocardiography, the data of which were analyzed with the Student t-test. The mean value of the pre-ejection period/ejection time ratio of the left ventricle during systole, the diameter of the posterior wall of the left ventricle during diastole, the left and right isovolumic relaxation times, and the right myocardial performance index in the patients with beta thalassemia major and intermedia increased significantly compared to those of the controls, but the other parameters were similar between the two patient groups. The mean values of the left and right pre-ejection periods, left ventricular endsystolic dimension, and left isovolumic contraction time in the patients with thalassemia intermedia increased significantly compared to those of the controls. In the left side, myocardial performance index, left ventricular mass index, isovolumic contraction time, and deceleration time exhibited significant changes between the patients with thalassemia major and those with thalassemia intermedia, whereas all the echocardiographic parameters of the right side were similar between these two groups. The results showed that the systolic and diastolic functions of the right and left sides of the heart would be impaired in patients with thalassemia major and thalassemia intermedia. Consequently, serial echocardiography is suggested in asymptomatic patients with beta thalassemia for an early diagnosis of heart dysfunction and proper treatment
ABSTRACT
Patients suffering from major beta thalassemia need frequent blood transfusions and, if not treated well, would be at risk of heart dysfunction. This study was performed to determine the diagnostic value of electrocardiography versus echocardiography in measuring the left ventricular mass index in these patients. Between July 2010 and June 2011, 82 asymptomatic patients over 10 years of age with major thalassemia [42 men with a mean age of 17.65 +/- 3.39 years and 40 women with a mean age of 16.9 +/- 3.38 years] were enrolled in this study. For all the patients, standard electrocardiography [to measure R in aVL and S in V3 and calculate left ventricular mass index by electrocardiography] and echocardiography [to measure interventricular septum diameter in diastole, left ventricular posterior wall diameter in diastole, and left ventricular diameter in diastole in order to calculate left ventricular mass index by echocardiography] were performed, at least one week after transfusion. The calculated left ventricular mass indices were thereafter compared between the two methods [electrocardiography and echocardiography]. Sensitivity, specificity, positive predictive value, and negative predictive value in the two techniques in determining the left ventricular mass index were 67%, 25%, 89%, and 7% in the females, 65%, 33%, 92%, and 6% in the males, and 67%, 14%, 89%, and 3% in the total population, respectively. Furthermore, this study demonstrated that the average left ventricular mass index by echocardiography and electrocardiography was 104.86 +/- 21.65 gr/m[2] and 91.69 +/- 12.03 gr/m[2], respectively. Echocardiography was much more accurate than electrocardiography in determining the left ventricular mass index [p value = 0.0001]. The findings of this study demonstrated that echocardiography was more accurate and more reliable than electrocardiography in determining the left ventricular mass index in major thalassemia patients
Subject(s)
Humans , Male , Female , Electrocardiography , Echocardiography , Heart VentriclesABSTRACT
Patent ductus arteriosus [PDA] is one of the most frequently seen congenital heart diseases. Its closure is recommended because of the risk of infective endocardis, as well as morbidity and mortality in the long. The aim of this study was to assess the long term results of the transcatheter closure of PDA in infants using amplatzer duct occlude [ADO]. From May 2004 to September 2011, forty eight infants underwent transcatheter closure of PDA. A lateral or right anterior oblique view aortogram was done to locate PDA and to measure its size. Before discharge, repeat aortogram was performed to evaluate eventual residual shunt and to confirm the appropriate deployment of the ADO. Follow up evaluations were done with transthoracic echocardiography at discharge, 1 month, 6 months, 12 months and yearly thereafter. Findings: The mean age of patients at procedure was 9.18 +/- 2.32 [range 3 to 12] months, mean weight 6.73 +/- 1.16 [range 4.5 to 10.1] kg. The PDA occluded completely in 20 out of the 48 patients. Twenty four patients had trivial or mild shunt and two patients had moderate residual shunt which disappeared in one patient within 24 hours and other patient with moderate shunt in 1 month. One patient [age 8 months] had mild LPA stenosis. The device emobolization occurred in two patients, immediately after the procedure in one and during night in the other patient The long term results suggested that transcatheter closure of PDA using Amplatzer duct occluder is a safe and effective treatment in infants less than 1 year of age with minimal complications
Subject(s)
Humans , Female , Male , Cardiac Catheterization/instrumentation , Prostheses and Implants , Treatment Outcome , Septal Occluder Device , Prosthesis Design , Evaluation Studies as TopicABSTRACT
Familial hypercholesterolemia [FH] is an autosomal disorder that causes severe elevations in total cholesterol and low- density lipoprotein. FH is one of the primary risk factors for premature coronary artery disease in children and adults which requires early diagnosis and appropriate medical intervention. In this article, we report two cases of homozygous familial hypercholesterolemia