scholarly journals Fabry’s disease in cardiological aspect

2020 ◽  
pp. 22-27
Author(s):  
L. D. Khidirova ◽  
A. Kh. Magomedova ◽  
A. A. Vasilenko ◽  
V. S. Dudchenko

Hereditary genetic X-linked disease Fabry’s disease belongs to the group of lysosomal accumulation diseases and is caused by mutations in the GLA gene and is characterized by a decrease in functional activity or complete absence of the enzyme α-galactosidase A. This pathology belongs to the group of orphan diseases. Mutation of the GLA gene leads to the formation of defective forms of the enzyme α-galactosidase A, which contributes to the violation of the catabolism of glycosphingolipids, their further accumulation in the lysosomes of various cell cultures, and the development of lysosomal cell dysfunction. The prevalence of Fabry disease is about 1 in 117,000 live-born boys. According to screening studies in newborns, this figure can be about 1 in 3,100 and affects to the same extent representatives of all ethnic groups. Fabri’s disease has become actively studied in Russia, but more than 5,000 people (according to estimates) remain undiagnosed. In the first place among the causes of death in Fabry’s disease is heart disease, in particular left ventricular hypertrophy with the subsequent development of diastolic dysfunction and heart failure. Heart rhythm disorders are often observed. Early diagnosis of Fabri disease will lead to the appointment of genotype-specific enzyme replacement therapy and reduce the risk of cardiovascular complications.

2019 ◽  
Vol 04 (02) ◽  
pp. 095-098
Author(s):  
Goutham Akidi

AbstractFabry’s disease is caused by progressive lysosomal accumulation of neutral glycosphingolipids, primarily globotriaosylceramide. It results from deficiency of the enzyme α-galactosidase A, which is encoded by GLA on the X chromosome. Usually it presents in children as the classic variant, and the cardiac variant is extremely rare. Before labeling as cardiac variant in infants and children we should rule out other causes of the cardiac hypertrophy with left ventricular outflow tract obstruction like metabolic causes, hypertrophic cardiomyopathy in infants, Noonan’s syndrome, and nesidioblastosis.We report a case of cardiac variant of Fabry’s disease in a 2-year-old male child. On evaluation he is found to have cardiac hypertrophy with no other features of Fabry’s disease, with low α galactosidase levels with no other systemic and syndromic features, which is an extremely rare presentation.


The Lancet ◽  
2010 ◽  
Vol 375 (9725) ◽  
pp. 1523 ◽  
Author(s):  
Stephen Waldek ◽  
Dominique P Germain ◽  
Christoph Wanner ◽  
David G Warnock

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
A Muessigbrodt ◽  
F Demoniere ◽  
S Finoly ◽  
M Mommarche ◽  
J Inamo

Abstract   The COVID-19 pandemics is a global challenge with a huge impact on medicine, politics, economy, education, travel and many other aspects of human life. The treatment of heart rhythm disorders has also been affected by the disease itself and by restrictions in order to constrain the spread of the virus. Catheter ablations of cardiac arrhythmias are nowadays frequently guided by electro-anatomic mapping systems. Technical staff with medical training, or medical staff with technical training, is needed to assist the operator. Travel restrictions due to current COVID-19 pandemics have limited the in person availability for technical support staff. To overcome these limitations we explored the feasibility of remote support with an internet based communication platform. A total of 9 patients (87,5% male, mean age 66,6 years) with different arrhythmias (atrial fibrillation, left atrial flutter, typical right atrial flutter, left ventricular tachycardia), having undergone ablation procedures between October 2020 and February 2021, were included. Acute procedural success was obtained in 9 out of 9 procedures. No complications occurred. Our experience with remote support for electro-anatomic mapping for complex electrophysiological ablation procedures, show the feasibility and safety of this approach. It increases the availability of technical support at reduced costs and a reduced CO2 footprint. Remote support for electro-anatomic mapping may therefore facilitate continuous care for patients with arrhythmias during the COVID-19 pandemics. Due to its advantages beyond COVID-19 pandemics related problems, it will likely play a greater role in the future. FUNDunding Acknowledgement Type of funding sources: None.


2007 ◽  
Vol 4 (11) ◽  
pp. 630-633 ◽  
Author(s):  
José Pedro L Nunes ◽  
Ovídio Costa ◽  
Maria do Sameiro Faria ◽  
Pedro Bernardo Almeida ◽  
Lúcia Lacerda

2007 ◽  
Vol 35 (4) ◽  
pp. 574-581 ◽  
Author(s):  
K Tsuboi

Fabry's disease, a disorder affecting the gene for the lysosomal enzyme α-galactosidase A (α-GAL A), can cause accumulation of globotriaosylceramide (GL-3) in the vascular endothelial cells. Symptoms include pain, angiokeratoma, corneal clouding, and damage to the heart and kidneys. Human recombinant α-GAL A for use as an enzyme replacement therapy was launched in Japan in April 2004. Eleven ambulatory patients with Fabry's disease were given replacement α-GAL A therapy. Three patients died due to factors associated with Fabry's disease. The enzyme replacement therapies in the remaining eight patients continued safely without any notable adverse events. The following were observed: a lowering of the plasma levels of GL-3 in seven cases, an improvement in the daily activities in six cases, and a reduction in corneal clouding in three cases. Although careful observation is necessary, these results suggest that replacement α-GAL A therapy may be a safe and effective treatment of Fabry's disease.


2010 ◽  
Vol 43 (1) ◽  
pp. 99-103
Author(s):  
Teruko Nakamura ◽  
Yukari Yamashita ◽  
Yoshiyuki Tomiyoshi ◽  
Shuichi Rikitake ◽  
Tomoya Kishi ◽  
...  

Kardiologiia ◽  
2020 ◽  
Vol 60 (5) ◽  
pp. 90-99
Author(s):  
S. K. Stolbova ◽  
N. A. Dragomiretskaya ◽  
I. G. Beliaev ◽  
V. I. Podzolkov

Aim To study clinical and laboratory associations of hepatic fibrosis indexes in patients with decompensated NYHA functional class II-IV chronic heart failure (CHF).Material and methods The study included 128 patients admitted to the cardiological or therapeutic department of the University Clinical Hospital #4 at the I. M. Sechenov First Moscow State Medical University (Sechenov University) with symptoms of CHF associated with ischemic heart disease (IHD) and/or arterial hypertension (AH). All patients had signs of liver disease (liver enlargement on physical examination ± diffuse changes in hepatic tissue according to ultrasound data). Mean age was 70.59±10.71 years. Along with general clinical examination, severity of hepatic fibrosis was evaluated by calculated indexes, FIB-4, APRI, MELD-XI, and BARD. All calculations were based on laboratory data obtained within the first two days of hospitalization for decompensated CHF, at the onset of active therapy with intravenous diuretics. Statistical analyses were performed with the R programming language (3.6.1).Results In patients with NYHA FC II–IV CHF, the FIB-4 index significantly increased with the increase in NYHA FC (р<0.05). Also, the high liver density by most fibrosis indexes correlated with the probability of LV EF decrease to <40 % (FIB-4: RR, 1.32 at 95 % CI from 0.53 to 3.28, р=0.079; MELD-XI: RR, 1.62 at 95 % CI from 1.19 to 2.20, р=0.004; BARD: median LV EF, 42.5 % vs. 56 %, р=0.019), and a tendency to heart rhythm disorders was observed (FIB-4: RR, 1.92 at 95 % CI from 0.75 to 4.90, р=0.218; BARD: RR, 1.09 at 95 % CI from 0.97 to 1.22, р=0.174; MELD-XI: RR, 1.34 at 95 % CI from 0.94 to 1.90, р=0.101). Increases in liver fibrosis indexes correlated with other multiorgan disorders in CHF patients evident as a decrease in platelet count (FIB-4: р<0.01; APRI: р=0.045) and a tendency to a decrease in hemoglobin (FIB-4: 127 g/l vs. 137 g/l, p=0.249; APRI: 127 g/l vs. 136 g/l, p=0.749). Patients with a high liver density more frequently had cardiorenal syndrome diagnosed by reduced glomerular filtration rate (GFR) estimated by CKD-EPI to less than 60 ml/min / 1.73 m2 (FIB-4: р<0.03; MELD-XI: p=0.0001; BARD: р=0.005). In comparing liver fibrosis indexes in subgroups of CHF patients with preserved and reduced left ventricular ejection fraction (LV EF), significant differences were found only for MELD-XI (12.08 vs. 9.32, р=0.001).Conclusions For all studied indexes, correlations were observed with LV EF, decreases in hemoglobin, and incidence of heart rhythm disorders. For the BARD, FIB-4, and MELD-XI indexes, high results of calculations correlated with the presence of other predictors for unfavorable prognosis and disease severity (LV EF, NYHA FC, presence of type 2 diabetes mellitus, chronic kidney disease, and lower GFR). Liver fibrosis indexes are a new and promising but understudied instrument for evaluation of prognosis in CHF patients, which requires further study to determine most appropriate prognostic formulas.


2021 ◽  
Vol 27 (1) ◽  
pp. 41-49
Author(s):  
Y.M. Mostovoy ◽  
T.D. Danilevych

There is growing evidence that arrhythmias are a major complication of COVID-19 infection. Inflammation of the myocardium, cytokine storm, hypoxia, changes of electrolyte levels, coronary vasospasm, microcloths may be factors that contribute to the development of arrhythmias and changes of the ECG. The aim of the study was to determine the sex and age characteristics of the prevalence and structure of cardiac arrhythmias in patients with severe COVID infection. In the study were examined 133 patients with severe COVID-19 infection, who were in the intensive care unit of the city clinical hospital №1 in Vinnytsia at the period from April to December 2020 and as a result of treatment with improved health were discharged from the hospital. Statistical processing of the obtained data was performed using the statistical software package SPSS 12.0 for Windows using parametric and non-parametric methods of statistical analysis. It was found that the most common comorbid pathologies of the patients with severe COVID-19 were – arterial hypertension 90 (67.7%), coronary heart disease 91 (68.4%), chronic heart failure 65 (48.9%), obesity 47 (35.3%) and diabetes mellitus 32 (24.1%). It was found that the prevalence of cardiac arrhythmias in patients with severe COVID-19 was 86 (64.7%) patients. Among all arrhythmias, tachyarrhythmias predominated – 68 (51.1%), in the structure of which sinus tachycardia was the most common in 45 (33.8%) and atrial fibrillation (AF) – in 19 (14.3%) patients, respectively. In turn, sinus tachycardia was significantly more common among women. The prevalence of bradyarrhythmias was 60 (45.1%), in the structure of which were dominated sinus bradycardia 16 (12%) and blockade of the right branch of the His bundle 30 (22.6%). Among men, there was a tendency to the predominance of complete left bundle branch block. The prevalence of ischemic changes and/or repolarization disorders according to the ECG was 119 (89.5%), in the structure of which were dominated the presence of inversion of the T wave 91 (68.4%) and depression of the ST segment 54 (40.6%). The mean age of the patients with ischemic ECG changes was significantly higher compared to patients without signs of repolarization disorders. Among men, there was a predominance of pancreatic hypertrophy and a tendency to predominance of left ventricular hypertrophy.


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