scholarly journals Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses

Diagnostics ◽  
2020 ◽  
Vol 10 (2) ◽  
pp. 62 ◽  
Author(s):  
Hsiang-Yu Lin ◽  
Chih-Kuang Chuang ◽  
Chung-Lin Lee ◽  
Ming-Ren Chen ◽  
Kuo-Tzu Sung ◽  
...  
Keyword(s):  
Speckle Tracking ◽  
Speckle Tracking Echocardiography ◽  
Left Ventricular ◽  
Z Score ◽  
Mps Ii ◽  
Mps Vi ◽  
Z Scores ◽  
Mps I ◽  
Mps Iii ◽  
Conventional Echocardiography

Background: Mucopolysaccharidoses (MPSs) are a group of rare inherited metabolic disorders that can damage various organs, including the heart. Cardiac abnormalities have been observed in patients with all MPS types, with the most documented abnormalities being cardiac valvular regurgitation and stenosis, valvular thickening, and hypertrophic cardiomyopathy. Methods: Cardiac features of 53 Taiwanese patients with MPS (31 men and 22 women; age range 1.1–34.9 years; seven with MPS I, 16 with MPS II, nine with MPS III, 14 with MPS IVA, and seven with MPS VI) were evaluated using two-dimensional speckle-tracking echocardiography and conventional echocardiography. Results: The mean z scores of the global longitudinal strain (GLS), left ventricular mass index (LVMI), interventricular septum diameter in diastole (IVSd), left ventricular posterior wall diameter in diastole (LVPWd), and aortic diameter of the 53 patients with MPS were 1.71, 0.35, 1.66, 1.03, and 3.15, respectively. Furthermore, z scores >2 were identified in 45%, 13%, 40%, 13%, and 70% of the GLS, LVMI, IVSd, LVPWd, and aortic diameter, respectively. The most severe GLS was observed in those with MPS VI, followed by in those with MPS II and MPS I. The GLS z score was positively correlated with the LVMI z score (p < 0.01). Moreover, diastolic dysfunction (reversed ratio between early and late (atrial) ventricular filling velocity (E/A ratio < 1)) was identified in 12 patients (23%). Ejection and shortening fractions were abnormal in four (8%) and seven (13%) patients, respectively. Mitral regurgitation (MR) (92%) was the most common valvular heart disease, followed by aortic regurgitation (AR) (57%), mitral stenosis (MS) (21%), and aortic stenosis (AS) (15%). The z scores of the GLS and LVMI and severity scores of the MS, MR, AS, and AR were all positively correlated with increasing age (p < 0.05). Twenty patients (38%) had a left ventricular remodeling pattern. Conclusions: The most significant left ventricular myocardial deformation, hypertrophy and valvular heart disease were observed in the patients with MPS VI, II, and I, followed by those with MPS IV; in contrast, patients with MPS III had the mildest manifestations. Cardiac abnormalities in patients with MPS worsened with increasing age in accordance with the progressive nature of this disease.

scholarly journals Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses

Diagnostics ◽  
2019 ◽  
Vol 9 (4) ◽  
pp. 148 ◽  
Author(s):  
Hsiang-Yu Lin ◽  
Chung-Lin Lee ◽  
Pao Chin Chiu ◽  
Dau-Ming Niu ◽  
Fuu-Jen Tsai ◽  
...  
Keyword(s):  
Body Mass Index ◽  
Body Mass ◽  
Growth Retardation ◽  
Clinical Manifestations ◽  
Mps Ii ◽  
Mps Vi ◽  
Z Scores ◽  
Mps Iva ◽  
Mps I ◽  
Mps Iii

Background: Children with mucopolysaccharidosis (MPS) generally appear unaffected at birth but may develop multiple clinical manifestations including profound growth impairment as they grow older. Each type of MPS has a variable age at onset and variable rate of progression, however, information regarding growth in Asian children is limited. Methods: This retrospective analysis included 129 Taiwanese patients with MPS (age range, 0.7 to 19.5 years, median age, 7.9 years) from eight medical centers in Taiwan from January 1996 through December 2018. Results: The mean z scores for the first recorded values of height, weight, and body mass index in the patients’ medical records were −4.25, −1.04, and 0.41 for MPS I (n = 9), −2.31, 0.19, and 0.84 for MPS II (n = 49), −0.42, 0.08, and −0.12 for MPS III (n = 27), −6.02, −2.04, and 0.12 for MPS IVA (n = 30), and −4.46, −1.52, and 0.19 for MPS VI (n = 14), respectively. MPS IVA had the lowest mean z scores for both height and weight among all types of MPS, followed by MPS VI, MPS I, MPS II, and MPS III, which showed the mildest growth retardation. Both z scores for height and weight were negatively correlated with increasing age for all types of MPS (p < 0.01). Of 32 patients younger than 5 years of age, 16 (50%), and 23 (72%) had positive z scores of height and weight, respectively. A substantial number of younger patients with MPS I, II, III, and IVA had a positive height z score. The median age at diagnosis was 3.9 years (n = 115). Conclusions: The patients with MPS IVA had the most significant growth retardation among all types of MPS, followed by MPS VI, MPS I, MPS II, and MPS III. The height and weight of the MPS patients younger than 2–5 years of age were higher than those of healthy individuals, however, their growth significantly decelerated in subsequent years. Understanding the growth curve and potential involved in each type of MPS may allow for early diagnosis and timely management of the disease, which may improve the quality of life.

scholarly journals Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy

Diagnostics ◽  
2020 ◽  
Vol 11 (1) ◽  
pp. 16
Author(s):  
Hsiang-Yu Lin ◽  
Ming-Ren Chen ◽  
Chung-Lin Lee ◽  
Shan-Miao Lin ◽  
Chung-Lieh Hung ◽  
...  
Keyword(s):  
Aortic Root ◽  
Root Diameter ◽  
Z Score ◽  
Long Term Effects ◽  
Enzyme Replacement ◽  
Mps Ii ◽  
Mps Vi ◽  
Aortic Root Dilatation ◽  
Mps I ◽  
Mps Iii

Background: Cardiovascular abnormalities have been observed in patients with mucopolysaccharidosis (MPS) of any type, with the most documented abnormalities being valvular regurgitation and stenosis and cardiac hypertrophy. Only a few studies have focused on aortic root dilatation and the long-term effects of enzyme replacement therapy (ERT) in these patients. Methods: We reviewed echocardiograms of 125 Taiwanese MPS patients (age range, 0.1 to 19.1 years; 11 with MPS I, 49 with MPS II, 25 with MPS III, 29 with MPS IVA, and 11 with MPS VI). The aortic root diameter was measured at the sinus of Valsalva. Results: Aortic root dilatation (z score >2) was observed in 47% of the MPS patients, including 66% of MPS IV, 51% of MPS II, 45% of MPS VI, 28% of MPS III, and 27% of MPS I patients. The mean aortic root diameter z score was 2.14 (n = 125). The patients with MPS IV had the most severe aortic root dilatation with a mean aortic root diameter z score of 3.03, followed by MPS II (2.12), MPS VI (2.06), MPS III (1.68), and MPS I (1.03). The aortic root diameter z score was positively correlated with increasing age (n = 125, p < 0.01). For the patients with MPS II, III, and IV, aortic root diameter z score was also positively correlated with increasing age (p < 0.01). For 16 patients who had received ERT and had follow-up echocardiographic data (range 2.0–16.2 years), the mean aortic root diameter z score change was −0.46 compared to baseline (baseline 2.49 versus follow-up 2.03, p = 0.490). Conclusions: Aortic root dilatation was common in the patients with all types of MPS, with the most severe aortic root dilatation observed in those with MPS IV. The severity of aortic root dilatation worsened with increasing age, reinforcing the concept of the progressive nature of this disease. ERT for MPS appears to stabilize the progression of aortic root dilatation.

scholarly journals Atrial and Ventricular Structural and Functional Alterations in Obese Children

Medicina ◽  
2021 ◽  
Vol 57 (6) ◽  
pp. 562
Author(s):  
Rima Šileikienė ◽  
Karolina Adamonytė ◽  
Aristida Ziutelienė ◽  
Eglė Ramanauskienė ◽  
Jolanta Justina Vaškelytė
Keyword(s):  
Speckle Tracking ◽  
Longitudinal Strain ◽  
Speckle Tracking Echocardiography ◽  
Myocardial Dysfunction ◽  
Global Longitudinal Strain ◽  
Radial Strain ◽  
Left Ventricular ◽  
Z Score ◽  
Obese Children ◽  
2D Speckle Tracking

Background and objectives: Childhood obesity has reached epidemic levels in the world. Obesity in children is defined as a body mass index (BMI) equal to or above the 95th percentile for age and sex. The aim of this study was to determine early changes in cardiac structure and function in obese children by comparing them with their nonobese peers, using echocardiography methods. Materials and methods: The study enrolled 35 obese and 37 age-matched nonobese children. Standardized 2-dimensional (2D), pulsed wave tissue Doppler, and 2D speckle tracking echocardiography were performed. The z-score BMI and lipid metabolism were assessed in all children. Results: Obese children (aged 13.51 ± 2.15 years; 20 boys; BMI z-score of 0.88 ± 0.63) were characterized by enlarged ventricular and atrial volumes, a thicker left ventricular posterior wall, and increased left ventricular mass. Decreased LV and RV systolic and diastolic function was found in obese children. Atrial peak negative (contraction) strain (−2.05% ± 2.17% vs. −4.87% ± 2.97%, p < 0.001), LV and RV global longitudinal strain (−13.3% ± 2.88% vs. −16.87% ± 3.39%; −12.51% ± 10.09% vs. −21.51% ± 7.42%, p < 0.001), and LV global circumferential strain (−17.0 ± 2.7% vs. −19.5 ± 2.9%, p < 0.001) were reduced in obese children. LV torsion (17.94° ± 2.07° vs. 12.45° ± 3.94°, p < 0.001) and normalized torsion (2.49 ± 0.4°/cm vs. 1.86 ± 0.61°/cm, p = 0.001) were greater in obese than nonobese children. A significant inverse correlation was found between LV and RV global longitudinal strain and BMI (r = −0.526, p < 0.01; r = −0.434, p < 0.01) and total cholesterol (r = −0.417, p < 0.01). Multivariate analysis revealed that the BMI z-score was independently related to LV and RV global longitudinal strain as well as LV circumferential and radial strain. Conclusion: 2D speckle tracking echocardiography is beneficial in the early detection of regional LV systolic and diastolic dysfunctions, with preserved ejection fraction as well as additional RV and atrial involvement, in obese children. Obesity may negatively influence atrial and ventricular function, as measured by 2D speckle tracking echocardiography. Obese children, though they are apparently healthy, may have subclinical myocardial dysfunction.

scholarly journals Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses

Diagnostics ◽  
2020 ◽  
Vol 10 (3) ◽  
pp. 155 ◽  
Author(s):  
Galina Baydakova ◽  
Alex Ilyushkina ◽  
Lidia Gaffke ◽  
Karolina Pierzynowska ◽  
Igor Bychkov ◽  
...  
Keyword(s):  
Heparan Sulfate ◽  
Fabry Disease ◽  
Direct Result ◽  
Control Group ◽  
Lysosomal Storage ◽  
Mps Ii ◽  
Mps Vi ◽  
Mps I ◽  
Mps Iii

Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders associated with impaired glycosaminoglycans (GAGs) catabolism. In MPS I, II, III, and VII, heparan sulfate (HS) cannot be degraded because of the lack of sufficient activity of the respective enzymes, and its accumulation in the brain causes neurological symptoms. Globotriaosylsphingosine (LysoGb3), the deacylated form of globotriaosylceramide (Gb3), is described as a highly sensitive biomarker for another lysosomal storage disease—Fabry disease. The connection between MPSs and LysoGb3 has not yet been established. This study included 36—MPS I, 15—MPS II, 25—MPS III, 26—MPS IV, and 14—MPS VI patients who were diagnosed by biochemical and molecular methods and a control group of 250 males and 250 females. The concentration of lysosphingolipids (LysoSLs) was measured in dried blood spots by high pressure liquid chromatography—tandem mass spectrometry. We have demonstrated that LysoGb3 concentration was significantly elevated (p < 0.0001) in untreated MPS I (3.07 + 1.55 ng/mL), MPS II (5.24 + 2.13 ng/mL), and MPS III (6.82 + 3.69 ng/mL) patients, compared to the control group (0.87 + 0.55 ng/mL). LysoGb3 level was normal in MPS VI and MPS IVA (1.26 + 0.39 and 0.99 + 0.38 ng/mL, respectively). Activity of α-galactosidase A (α-Gal A), an enzyme deficient in Fabry disease, was not, however, inhibited by heparan sulfate in vitro, indicating that an increase of LysoGb3 level in MPS I, MPS II, and MPS III is an indirect effect of stored MPSs rather than a direct result of impairment of degradation of this compound by HS. Our findings indicate some association of elevated LysoGb3 concentration with the neuronopathic forms of MPSs. The pathological mechanism of which is still to be studied.

scholarly journals Subclinical Left Ventricular Systolic Dysfunction in Patients with Septic Shock Based on Sepsis-3 Definition: A Speckle-Tracking Echocardiography Study

2020 ◽  
Vol 2020 ◽  
pp. 1-6 ◽  
Author(s):  
Pham Dang Hai ◽  
Le Lan Phuong ◽  
Nguyen Manh Dung ◽  
Le Thi Viet Hoa ◽  
Do Van Quyen ◽  
...  
Keyword(s):  
Septic Shock ◽  
Speckle Tracking ◽  
Speckle Tracking Echocardiography ◽  
Left Ventricular Systolic Dysfunction ◽  
Systolic Dysfunction ◽  
Global Longitudinal Strain ◽  
Left Ventricular ◽  
Control Group ◽  
Ventricular Systolic Dysfunction ◽  
Conventional Echocardiography

Introduction. Left ventricular dysfunction is quite common in septic shock. Speckle-tracking echocardiography (STE) is a novel, highly sensitive method for assessing left ventricular function, capable of detecting subclinical myocardial dysfunction, which is not identified with conventional echocardiography. We sought to evaluate subclinical left ventricular systolic function in patients with septic shock using speckle-tracking echocardiography. Methods. From May 2017 to December 2018, patients aged ≥18 years admitted to the intensive care unit with the diagnosis of sepsis and septic shock based on the sepsis-3 definition were included. Patients with other causes of cardiac dysfunction were excluded. Transthoracic echocardiography was performed for all the patients within 24 hours of diagnosis. Left ventricular systolic function was assessed using conventional echocardiography and speckle-tracking echocardiography. Results. Patients with septic shock (n = 90) (study group) and 37 matched patients with sepsis but no septic shock (control group) were included. Left ventricular ejection fraction (LVEF) by conventional echocardiography showed no significant difference between two groups (58.2 ± 9.9 vs. 58.6 ± 8.3, p=0.804). The global longitudinal strain (GLS) by STE was significantly reduced in patients with septic shock compared with that in the control (−14.6 ± 3.3 vs. −17.1 ± 3.3, p<0.001). Based on the cutoff value of GLS ≥ −15% for the definition of subclinical left ventricular systolic dysfunction, this dysfunction was detected in 50 patients with septic shock (55.6%) and in 6 patients in the control group (16.2%) (p<0.05). Conclusions. Speckle-tracking echocardiography can detect early subclinical left ventricular systolic dysfunction via the left ventricular global longitudinal strain compared with conventional echocardiographic parameters in patients with septic shock.

Heart function in juvenile idiopathic arthritis patients: A biventricular two-dimensional speckle-tracking echocardiography study

2021 ◽  
Author(s):  
Alessandro C Lianza ◽  
Gabriela N Leal ◽  
Nádia E Aikawa ◽  
Katia T Kozu ◽  
Maria De Fátima R Diniz ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Cardiac Function ◽  
Right Ventricular ◽  
Strain Rate ◽  
Speckle Tracking ◽  
Speckle Tracking Echocardiography ◽  
Left Ventricular ◽  
Biological Agents ◽  
Systolic Strain ◽  
Conventional Echocardiography

ABSTRACT Objectives We evaluated cardiac function in juvenile idiopathic arthritis (JIA) patients by 2D speckle-tracking echocardiography (2DSTE) and to assess possible associations with clinical, laboratorial, and treatment data. Methods A group of 42 JIA patients and 42 healthy controls were evaluated using both conventional echocardiography and 2DSTE. JIA patients underwent clinical and laboratory assessment. Results Conventional echocardiography data demonstrated normal left ventricular (LV) ejection fraction in both groups (71 vs. 71%; p = .69). 2DSTE analysis demonstrated that JIA patients presented significantly lower LV global systolic longitudinal strain (LVGLS) (−18.76 vs. −22%; p &lt; .0001), LV systolic strain rate (LVSSR) (1.06 vs. 1.32 s−1; p &lt; .0001), LV diastolic strain rate (LVDSR) (1.58 vs. 1.8 s−1; p &lt; .0137), right ventricular global systolic strain (RVGLS) (−24.1% vs. −27.7%; p = .0002), and right ventricular systolic strain rate (RVSSR) (1.4 vs. 1.8 s−1; p = .0035). JIA patients under biological agents presented higher LVGLS (p = .02) and RVLS (p = .01). We also detected an association between LVGLS and C-reactive protein [CRP; −20% in normal CRP (10/42) vs. −18% in elevated CRP patients (32/42), p = .03]. Conclusions JIA patients present different echocardiographic status from healthy patients. Moreover, our data suggest that JIA patients under biological agents present association with better cardiac function as shown by strain analysis.

scholarly journals Speckle tracking echocardiography in acute lupus myocarditis: comparison to conventional echocardiography

2017 ◽  
Vol 4 (2) ◽  
pp. 9-19 ◽  
Author(s):  
Riëtte Du Toit ◽  
Phillip G Herbst ◽  
Annari van Rensburg ◽  
Hendrik W Snyman ◽  
Helmuth Reuter ◽  
...  
Keyword(s):  
Speckle Tracking ◽  
Longitudinal Strain ◽  
Wall Motion ◽  
Speckle Tracking Echocardiography ◽  
Global Longitudinal Strain ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
Conventional Echocardiography ◽  
Lupus Myocarditis

Aims Lupus myocarditis occurs in 5–10% of patients with systemic lupus erythematosus (SLE). No single feature is diagnostic of lupus myocarditis. Speckle tracking echocardiography (STE) can detect subclinical left ventricular dysfunction in SLE patients, with limited research on its utility in clinical lupus myocarditis. We report on STE in comparison to conventional echocardiography in patients with clinical lupus myocarditis. Methods and results A retrospective study was done at a tertiary referral hospital in South Africa. SLE patients with lupus myocarditis were included and compared to healthy controls. Echocardiographic images were reanalyzed, including global longitudinal strain through STE. A poor echocardiographic outcome was defined as final left ventricular ejection fraction (LVEF) <40%. 28 SLE patients fulfilled the criteria. Global longitudinal strain correlated with global (LVEF: r = −0.808; P = 0.001) and regional (wall motion score: r = 0.715; P < 0.001) function. In patients presenting with a LVEF ≥50%, global longitudinal strain (P = 0.023), wall motion score (P = 0.005) and diastolic function (P = 0.004) were significantly impaired vs controls. Following treatment, LVEF (35–47% (P = 0.023)) and wall motion score (1.88–1.5 (P = 0.017)) improved but not global longitudinal strain. Initial LVEF (34%; P = 0.046) and global longitudinal strain (−9.5%; P = 0.095) were lower in patients with a final LVEF <40%. Conclusions This is the first known report on STE in a series of patients with clinical lupus myocarditis. Global longitudinal strain correlated with regional and global left ventricular function. Global longitudinal strain, wall motion score and diastolic parameters may be more sensitive markers of lupus myocarditis in patients presenting with a preserved LVEF ≥50%. A poor initial LVEF and global longitudinal strain were associated with a persistent LVEF <40%. Echocardiography is a non-invasive tool with diagnostic and prognostic value in lupus myocarditis.

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