scholarly journals Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients

2021 ◽  
pp. 1-7
Author(s):  
Akçahan Akalın ◽  
İlker Ertuğrul ◽  
Pelin Özlem Şimşek-Kiper ◽  
Gülen Eda Utine ◽  
Koray Boduroğlu

Turner syndrome (TS) is one of the most common malformation syndromes in females. A total number of 107 TS patients, diagnosed between 2000 and 2018, were evaluated for their phenotypic features, and cardiac and renal findings. The mean age of patients at admission was 10.08 ± 4.9 years (range, newborn to 18 years). Four different karyotype groups were encountered, and the most common findings in all groups were short stature, followed by cubitus valgus. Echocardiographic findings of 85 patients were available among which 63 (<i>n</i> = 63/85, 74.1%) were found to be normal. The most common cardiac anomaly was left ventricular outflow tract/aortic arch pathology detected in 9 patients (<i>n</i> = 9/22, 40.9%). Renal malformations were detected in 15 patients (<i>n</i> = 15/84, 17.9%) by renal ultrasonography, and horseshoe kidney was the most common renal malformation, followed by left multicystic dysplastic kidney. There was no significant difference in the frequency of renal malformation and cardiac anomalies among the 4different karyotype groups (χ<sup>2</sup> exact test, <i>p</i> &#x3e; 0.05). Compared with the literature, the frequency of renal anomalies was detected at a lower rate. Karyotype analysis should be carried out in all female patients with short stature, even if there are no associated phenotypic findings suggestive of TS. Since cardiac anomalies are frequently seen in TS patients and they represent a common cause of mortality, echocardiography should be carried out as soon as the definite diagnosis is established. Renal anomalies may be less frequent than cardiac anomalies; however, evaluation of TS patients with renal ultrasonography should be done at the time of diagnosis. Although renal ultrasonography can be used as the initial renal screening in TS patients, it may underestimate the frequency of renal malformation; hence, further management may be required.

2021 ◽  
Author(s):  
Qurat-Ul-Ain Siddique ◽  
ABID JAMALI ◽  
Sanober Fatima ◽  
Jai Parkash

Abstract INTRODUCTION:: Approximately 20 to 30% of all anomalies identified in the prenatal period are congenital anomalies of the kidney and urinary tract (CAKUT). Widespread antenatal screening has resulted in increased detection of anomalies of the kidneys and urinary tract. There are limited studies on the postnatal confirmation of these antenatally detected renal malformations. Moreover, there is no local data available in this regard. So, we conducted the study so that we can obtain local data as well as we can plan management and prevention protocols for such chronically, and sometimes critically, ill neonates. MATERIALS AND METHODS:: It was a cross-sectional study conducted at the neonatal intensive care unit (NICU) at the National Institute of Child Health, Karachi during 2017-2018. The sample size was 100 cases. The sampling technique was non-probability consecutive sampling. All neonates aged 1-28 days of either gender admitted in NICU with antenatal diagnosis of congenital renal anomalies on anomaly scan were included in the study. Preterm neonates (gestational age below 34 weeks) and neonates having siblings with similar congenital problems were excluded. RESULTS:: The mean age of the neonates in our study was 10.17 ±9.30 days and the mean gestational age at birth was 36.65 ±1.16 weeks. The majority of the neonates, that is 65%, were males while 35% were females. Sixty-six per cent (66%) neonates were ≤10 days of age while 34% were >10 days of age. Fifty five% of the neonates were ≤36 weeks of gestation at birth while 45% were >36 weeks of gestation at birth. Frequency of postnatally confirmed congenital renal malformation was observed in 78 (78%) neonates. Neonates whose age at presentation was >10 days were slightly more likely to have confirmed congenital renal malformation as compared to neonates with ≤10 days of age, which is 85.3 % vs 74.2 % (p-value 0.206). Males and females were found to have almost equal postnatally confirmed congenital renal malformations (78.5 % in males and 77.1% in females) (p-value 0.879). Postnatally confirmed congenital renal malformations were observed more commonly in neonates who were >36 weeks of gestational age (80%) as compared to those ≤36 weeks of gestational age (76.4%) (p-value 0.662). CONCLUSION::The frequency of confirmed congenital renal malformation was found higher in neonates presenting with antenatal diagnosis of renal anomalies presenting in the neonatal intensive care unit.


1991 ◽  
Vol 30 (05) ◽  
pp. 183-188
Author(s):  
A. Aydrner ◽  
A. Oto ◽  
E. Oram ◽  
O. Gedik ◽  
C. F. Bekdik ◽  
...  

Left ventricular function including regional wall motion (RWM) was evaluated by 99mTc first-pass and equilibrium gated blood pool ventriculography and glycohemoglobin (HbA1c) blood levels determined by a quantitative column technique in 25 young patients with insulin-dependent diabetes mellitus without clinical evidence of heart disease, and in healthy controls matched for age and sex. Phase analysis revealed abnormal RWM in 19 of 21 diabetic patients. The mean left ventricular global ejection fraction, the mean regional ejection fraction and the mean 1/3 filling fraction were lower and the time to peak ejection, the time to peak filling and the time to peak ejection /cardiac cycle were longer in diabetics than in controls. We found high HbA1c levels in all diabetics. There was no significant difference between patients with and without retinopathy and with and without peripheral neuropathy in terms of left ventricular function and HbA1c levels.


1989 ◽  
Vol 121 (4) ◽  
pp. 513-519 ◽  
Author(s):  
Hiroshi Tomita ◽  
Masamichi Ogawa ◽  
Takashi Kamijo ◽  
Osamu Mori ◽  
Eiji Ishikawa ◽  
...  

Abstract. GH values were determined by a highly sensitive sandwich enzyme immunoassay in the 1st morning and/or 24-h accumulated urine samples in 94 children (short stature 70, including 14 with complete GH deficiency, 9 with partial GH deficiency, and 47 with GH-normal short stature; Turner's syndrome, 10, and simple obesity, 14). GH values were also determined in the 2nd to 4th urine samples taken on the same day together with the 1st morning urine in 5 of them. GH values in the 1st morning urine correlated significantly with those of the 24-h urine and with serum peak and mean GH values during nocturnal sleep as a physiological GH secretion test. The 2nd to 4th urines had lower GH concentrations than the 1st morning urine. The GH value of the 1st morning urine in complete GH deficiency was significantly lower than those in GH-normal short stature, partial GH deficiency and Turner's syndrome. However, no significant difference was detected in urinary GH values between complete GH deficiency and simple obesity. We conclude that 1st morning urinary GH estimation may be useful for differentiation of complete GH deficiency from other causes of short stature, but may be difficult for the distinction between complete GH deficiency and obesity with normal GH secretory ability.


2013 ◽  
Vol 118 (4) ◽  
pp. 796-808 ◽  
Author(s):  
Pornswan Ngamprasertwong ◽  
Erik C. Michelfelder ◽  
Shahriar Arbabi ◽  
Yun Suk Choi ◽  
Christopher Statile ◽  
...  

Abstract Background: Use of high-dose inhalational anesthesia during open fetal surgery may induce maternal–fetal hemodynamic instability and fetal myocardial depression. The authors’ preliminary human retrospective study demonstrated less fetal bradycardia and left ventricular systolic dysfunction with lower dose desflurane supplemented with propofol and remifentanil IV anesthesia (SIVA). In this animal study, the authors compare maternal–fetal effects of high-dose desflurane anesthesia (HD-DES) and SIVA. Methods: Of 26 instrumented midgestational ewes, data from 11 animals exposed to both SIVA and HD-DES in random sequences and six animals exposed to HD-DES while maternal normotension was maintained were analyzed. Maternal electroencephalography was used to guide comparable depths of anesthesia in both techniques. Hemodynamic parameters, blood gas, and fetal cardiac function from echocardiography were recorded. Results: Compared with SIVA, HD-DES resulted in significant maternal hypotension (mean arterial pressure difference, 19.53 mmHg; 95% CI, 17.6–21.4; P &lt; 0.0001), fetal acidosis (pH 7.11 vs. 7.24 at 150 min, P &lt; 0.001), and decreased uterine blood flow. In the HD-DES group with maternal normotension, uterine blood flow still declined and fetal acidosis persisted, with no statistically significant difference from the group exposed to HD-DES that had maternal hypotension. There was no statistically significant difference in fetal cardiac function. Conclusion: In sheep, SIVA affects maternal hemodynamics less and provides better fetal acid/base status than high-dose desflurane. Fetal echocardiography did not reflect myocardial dysfunction in this model.


Author(s):  
Fabian Strodka ◽  
Jana Logoteta ◽  
Roman Schuwerk ◽  
Mona Salehi Ravesh ◽  
Dominik Daniel Gabbert ◽  
...  

AbstractVentricular dysfunction is a well-known complication in single ventricle patients in Fontan circulation. As studies exclusively examining patients with a single left ventricle (SLV) are sparse, we assessed left ventricular (LV) function in SLV patients by using 2D-cardiovascular magnetic resonance (CMR) feature tracking (2D-CMR-FT) and 2D-speckle tracking echocardiography (2D-STE). 54 SLV patients (11.4, 3.1–38.1 years) and 35 age-matched controls (12.3, 6.3–25.8 years) were included. LV global longitudinal, circumferential and radial strain (GLS, GCS, GRS) and strain rate (GLSR, GCSR, GRSR) were measured using 2D-CMR-FT. LV volumes, ejection fraction (LVEF) and mass were determined from short axis images. 2D-STE was applied in patients to measure peak systolic GLS and GLSR. In a subgroup analysis, we compared double inlet left ventricle (DILV) with tricuspid atresia (TA) patients. The population consisted of 19 DILV patients, 24 TA patients and 11 patients with diverse diagnoses. 52 patients were in NYHA class I and 2 patients were in class II. Most SLV patients had a normal systolic function but median LVEF in patients was lower compared to controls (55.6% vs. 61.2%, p = 0.0001). 2D-CMR-FT demonstrated reduced GLS, GCS and GCSR values in patients compared to controls. LVEF correlated with GS values in patients (p < 0.05). There was no significant difference between GLS values from 2D-CMR-FT and 2D-STE in the patient group. LVEF, LV volumes, GS and GSR (from 2D-CMR-FT) were not significantly different between DILV and TA patients. Although most SLV patients had a preserved EF derived by CMR, our results suggest that, LV deformation and function may behave differently in SLV patients compared to healthy subjects.


Perfusion ◽  
2021 ◽  
pp. 026765912110339
Author(s):  
Shek-yin Au ◽  
Ka-man Fong ◽  
Chun-Fung Sunny Tsang ◽  
Ka-Chun Alan Chan ◽  
Chi Yuen Wong ◽  
...  

Introduction: The intra-aortic balloon pump (IABP) and Impella are left ventricular unloading devices with peripheral venoarterial extracorporeal membrane oxygenation (VA-ECMO) in place and later serve as bridging therapy when VA-ECMO is terminated. We aimed to determine the potential differences in clinical outcomes and rate of complications between the two combinations of mechanical circulatory support. Methods: This was a retrospective, single institutional cohort study conducted in the intensive care unit (ICU) of Queen Elizabeth Hospital, Hong Kong. Inclusion criteria included all patients aged ⩾18 years, who had VA-ECMO support, and who had left ventricular unloading by either IABP or Impella between January 1, 2018 and October 31, 2020. Patients <18 years old, with central VA-ECMO, who did not require left ventricular unloading, or who underwent surgical venting procedures were excluded. The primary outcome was ECMO duration. Secondary outcomes included length of stay (LOS) in the ICU, hospital LOS, mortality, and complication rate. Results: Fifty-two patients with ECMO + IABP and 14 patients with ECMO + Impella were recruited. No statistically significant difference was observed in terms of ECMO duration (2.5 vs 4.6 days, p = 0.147), ICU LOS (7.7 vs 10.8 days, p = 0.367), and hospital LOS (14.8 vs 16.5 days, p = 0.556) between the two groups. No statistically significant difference was observed in the ECMO, ICU, and hospital mortalities between the two groups. Specific complications related to the ECMO and Impella combination were also noted. Conclusions: Impella was not shown to offer a statistically significant clinical benefit compared with IABP in conjunction with ECMO. Clinicians should be aware of the specific complications of using Impella.


2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
A Batzner ◽  
D Aicha ◽  
H Seggewiss

Abstract Introduction Alcohol septal ablation (PTSMA) was introduced as interventional alternative to surgical myectomy for symptomatic patients with hypertrophic obstructive cardiomyopathy (HOCM) 25 years ago. As gender differences in diagnosis and treatment of HOCM are still unclear we analyzed baseline characteristics and results of PTSMA in a large single center cohort with respect to gender. Methods and results Between 05/2000 and 06/2017 first PTSMA in our center was performed in 952 patients with symptomatic HOCM. We treated less 388 (40.8%) women and 564 (59.2%) men. All patients underwent clinical follow-up. At the time of the intervention women were older (61.2±14.9 vs. 51.9±13.7 years; p&lt;0.0001) and suffered more often from NYHA grade III/IV dyspnea (80.9% vs. 68.1%; p&lt;0.0001), whereas angina pectoris was comparable in women (62.4%) and men (59.9%). Echocardiographic baseline gradients were comparable in women (rest 65.0±38.1 mmHg and Valsalva 106.2±45.7 mmHg) and men (rest 63.1±38.3 mmHg and Valsalva 103.6±42.8 mmHg). But, women had smaller diameters of the left atrium (44.3±6.9 vs. 47.2±6.5 mm; p&lt;0001), maximal septum thickness (20.4±3.9 vs. 21.4±4.5 mm; p&lt;0.01), and maximal thickness of the left ventricular posterior wall (12.7±2.8 vs. 13.5±2.9 mm; p&lt;0.0001). In women, more septal branches (1.3±0.6 vs. 1.2±0.5; p&lt;0.05) had to be tested to identify the target septal branch. The amount of injected alcohol was comparable (2.0±0, 4 in women vs. 2.1±0.4 ml in men). The maximum CK increase was lower in women (826.0±489.6 vs. 903.4±543.0 U / l; p&lt;0.05). During hospital stay one woman and one man died, each (n.s.). The frequency of total AV blocks in the cathlab showed no significant difference between women (41.5%) and men (38.3%). Furthermore, the rate of permanent pacemaker implantation during hospital stay did not differ (12.1% in women vs. 9.4% in men). Follow-up periods of all patients showed no significant difference between women (5.7±4.9 years) and men (6.2±5.0 years). Overall, 37 (9.5%) women died during this period compared to only 33 (5.9%) men (p&lt;0.05). But, cardiovascular causes of death were not significantly different between women (2.8%) and men (1.6%). Furthermore, the rates of surgical myectomy after failed PTSMA (1.3% in women vs. 2.3% in men), ICD implantation for primary prevention of sudden cardiac death according to current guidelines (4.1% in women vs. 5.9% in men) or pacemaker implantation (3.6% in women vs. 2.0% in men) showed no significant differences. Summary PTSMA in women with HOCM was performed at more advanced age with more pronounced symptoms compared to men. While there were no differences in acute outcomes, overall long-term mortality was higher in women without differences in cardiovascular mortality. Therefore, women may require more intensive diagnostic approaches in order not to miss the correct time for gradient reduction treatment. Funding Acknowledgement Type of funding source: None


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
S. Mojdeh Mirmomen ◽  
Andrew E. Arai ◽  
Evrim B. Turkbey ◽  
Andrew J. Bradley ◽  
Julie C. Sapp ◽  
...  

AbstractIn this work, we sought to delineate the prevalence of cardiothoracic imaging findings of Proteus syndrome in a large cohort at our institution. Of 53 individuals with a confirmed diagnosis of Proteus syndrome at our institution from 10/2001 to 10/2019, 38 individuals (men, n = 23; average age = 24 years) underwent cardiothoracic imaging (routine chest CT, CT pulmonary angiography and/or cardiac MRI). All studies were retrospectively and independently reviewed by two fellowship-trained cardiothoracic readers. Disagreements were resolved by consensus. Differences between variables were analyzed via parametric and nonparametric tests based on the normality of the distribution. The cardiothoracic findings of Proteus syndrome were diverse, but several were much more common and included: scoliosis from bony overgrowth (94%), pulmonary venous dilation (62%), band-like areas of lung scarring (56%), and hyperlucent lung parenchyma (50%). In addition, of 20 individuals who underwent cardiac MRI, 9/20 (45%) had intramyocardial fat, mostly involving the endocardial surface of the left ventricular septal wall. There was no statistically significant difference among the functional cardiac parameters between individuals with and without intramyocardial fat. Only one individual with intramyocardial fat had mildly decreased function (LVEF = 53%), while all others had normal ejection fraction.


2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
N Landler ◽  
S Bro ◽  
B Feldt-Rasmussen ◽  
D Hansen ◽  
A.L Kamper ◽  
...  

Abstract Background The cardiovascular mortality of patients with chronic kidney disease (CKD) is 2–10 times higher than in the average population. Purpose To estimate the prevalence of abnormal cardiac function or structure across the stages CKD 1 to 5nonD. Method Prospective cohort study. Patients with CKD stage 1 to 5 not on dialysis, aged 30 to 75 (n=875) and age-/sex-matched controls (n=173) were enrolled consecutively. All participants underwent a health questionnaire, ECG, morphometric and blood pressure measurements. Blood and urine were analyzed. Echocardiography was performed. Left ventricle (LV) hypertrophy, dilatation, diastolic and systolic dysfunction were defined according to current ESC guidelines. Results 63% of participants were men. Mean age was 58 years (SD 12.6 years). Mean eGFR was 46.7 mL/min/1,73 m (SD 25.8) for patients and 82.3 mL/min/1,73 m (SD 13.4) for controls. The prevalence of elevated blood pressure at physical exam was 89% in patients vs. 53% in controls. Patients were more often smokers and obese. Left ventricular mass index (LVMI) was slightly, albeit insignificantly elevated at CKD stages 1 & 2 vs. in kontrols: 3.1 g/m2, CI: −0.4 to 6.75, p-value 0.08. There was no significant difference in LV-dilatation between patients and controls. Decreasing diastolic and systolic function was observed at CKD stage 3a and later: LVEF decreased 0.95% (CI: −1.5 to −0.2), GLS increased 0.5 (CI: 0.3 to 0.8), and OR for diastolic dysfunction increased 3.2 (CI 1.4 to 7.3) pr. increment CKD stage group. Conclusion In accordance to previous studies, we observe in the CPHCKD cohort study signs of early increase of LVMI in patients with CKD stage 1 & 2. Significant decline in systolic and diastolic cardiac function is apparent already at stage 3 CKD. Figure 1. Estimated GFR vs. GLS & histogram of GLS Funding Acknowledgement Type of funding source: Public hospital(s). Main funding source(s): The Capital Region of Denmark


2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
H Maqsood ◽  
H.A Shakeel ◽  
H.F Shoukat ◽  
M.D Khan ◽  
S.A.Y Shah ◽  
...  

Abstract Introduction Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular (LV) hypertrophy in the absence of pressure overload. Manifestations of the disease include heart failure associated with diastolic dysfunction and atrial and ventricular tachyarrhythmias. Pathological features of HCM include myocyte hypertrophy, interstitial fibrosis, and myocyte disarray and are mediated by angiotensin II. Purpose This study aimed to evaluate the effects of candesartan on left ventricular (LV) hypertrophy and fibrosis in patients with hypertrophic cardiomyopathy (HCM). Methods In double-blind fashion, 30 patients (6 women, 24 men; age: 55±11 years) with HCM were randomly assigned to receive placebo (n=13) or candesartan 50 mg twice a day (n=17) for 1 year. To measure LV mass and extent of fibrosis, cardiac magnetic resonance imaging was performed at baseline and 1 year as assessed by late gadolinium enhancement. Results There was a trend toward a significant difference in the percent change in LV mass (median: +5% with placebo vs. −5% with candesartan; p=0.06). There was a significant difference in the percent change in the extent of late gadolinium enhancement, with the placebo group experiencing a larger increase (+30±27% with placebo vs. −22±44% with candesartan; p=0.03). Conclusion Our study concludes reduction of the progression of myocardial hypertrophy and fibrosis with candesartan in patients with hypertrophic cardiomyopathy. Our study population was limited so we warrant larger trials to confirm a place for angiotensin receptor blockers in the management of patients with hypertrophic cardiomyopathy. Figure 1 Funding Acknowledgement Type of funding source: Other. Main funding source(s): Self funding


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