Dataset Information

The Effect of Growth Hormone Therapy on Cardiac Outcomes in Noonan Syndrome: Long Term Follow-up Results

ABSTRACT:

Objective

Cardiac involvement is common in Noonan syndrome (NS). Concerns have been raised regarding the effect of recombinant growth hormone (rGH) use on ventricular wall thickness and a possible increased risk of cardiac side effects. This study aimed to investigate the effect of rGH on the development of hypertrophic cardiomyopathy and other cardiac findings in NS.

Methods

Patients under the age of 18 years and diagnosed with NS according to the Van der Burgt criteria, were included. Patients were divided into two groups according to those receiving rGH or not at the time of obtaining cardiac measurements. Before and after the treatment, electrocardiographic and echocardiographic (ECHO) assessments were made, including interventricular septal thickness, left ventricular internal diameter, and left ventricular posterior thickness. Results were expressed as Z scores.

Results

Twenty-four NS subjects (16 boys, eight girls) were included. At the beginning of the follow up, the overall height standard deviation score was -2.56±0.94. Sixteen were on rGH. The mean rGH treatment duration was 8.3±3.8 years, and the mean dose was 0.22±0.04 mg/kg/week. The final height was 169±8.2 cm, and 10 of 11 patients who reached the final height received rGH. There was no difference between the rGH and non-rGH groups in terms of ECHO parameters pre-and post-treatment.

Conclusion

In this cohort, there was no change in ECHO parameters on rGH and during follow-up. These results suggest that rGH is safe in NS patients with cardiac pathology under close follow-up.

SUBMITTER: Kızılcan Cetin S

PROVIDER: S-EPMC9724055 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

The Effect of Growth Hormone Therapy on Cardiac Outcomes in Noonan Syndrome: Long Term Follow-up Results

Kızılcan Çetin Sirmen S Ramoğlu Mehmet Gökhan MG Şıklar Zeynep Z Özsu Elif E Aycan Zehra Z Tutar Hasan Ercan HE Berberoğlu Merih M

Journal of clinical research in pediatric endocrinology 20220721 4

<h4>Objective</h4>Cardiac involvement is common in Noonan syndrome (NS). Concerns have been raised regarding the effect of recombinant growth hormone (rGH) use on ventricular wall thickness and a possible increased risk of cardiac side effects. This study aimed to investigate the effect of rGH on the development of hypertrophic cardiomyopathy and other cardiac findings in NS.<h4>Methods</h4>Patients under the age of 18 years and diagnosed with NS according to the Van der Burgt criteria, were inc ...[more]

PMID: 35859537

Similar Datasets

Project description:Objective: Analyze the ultrasound features, single nucleotide polymorphism microarray (SNP-array) outcomes, pregnancy results, and follow-up data of fetuses with Xp22.31 deletions or duplications in mid to late pregnancy. Methods: A retrospective analysis was carried out on 10 cases diagnosed with Xp22.31 deletions and 11 cases with duplications, identified through single nucleotide polymorphism microarray (SNP-array) testing. The analysis focused on assessing ultrasound abnormalities, tracing parental origins, pregnancy outcomes, and postnatal follow-up conditions. Results: The deletion sizes in the 10 deletion cases ranged from 913 Kb to 1.81 Mb, while the duplication sizes in the 11 duplication cases ranged from 1.29 Mb to 2.35 Mb, encompassing 9 OMIM genes including STS, ANOS1, DXS1283E, VCS3B, and HDHD1A. Among the fetuses with deletions, four cases (40.0%, 4/10) exhibited ultrasound abnormalities, which included cardiovascular system malformations, lateral ventriculomegaly, clubfoot, increased nuchal translucency, and polyhydramnios. Notably, Case 5 involved a fetus with complex multi-organ malformations, including bilateral ventriculomegaly, a ventricular septal defect, and clubfoot. Among the 11 cases of duplications, three cases (27.3%, 3/11) exhibited ultrasound abnormalities, primarily featuring cardiovascular malformations, ventriculomegaly, and polyhydramnios. Of the 10 deletion cases, eight underwent parental origin testing, with seven cases inherited (six maternal and one paternal) and one case of de novo mutation. Among the 11 duplication cases, eight underwent parental origin testing, with seven cases being inherited (four maternal and three paternal) and one case representing a de novo mutation. Of the 10 deletion cases, six chose to terminate the pregnancy, while four decided to continue. Follow-up revealed that Case 6 was diagnosed with STS ichthyosis shortly after birth, and the sbling of Case 3 and Case 10 exhibited delayed walking and speech development. In the duplication group, one case opted for termination of pregnancy, while 10 continued with their pregnancies. Follow-up identified that Case 18 exhibited delayed walking and speech development. Conclusion: This study provides a preliminary assessment of the genotypes and phenotypes of fetuses with Xp22.31 deletions /duplications, expanding the phenotypic spectrum of Xp22.31 deletions /duplications syndrome. The findings indicate that prenatal Xp22.31 deletions in male fetuses are likely to manifest as STS ichthyosis after birth. Xp22.31 deletions and duplications may be associated with cardiovascular malformations. For fetuses with Xp22.31 deletions /duplications that appear phenotypically normal prenatally, postnatal monitoring of their neurological development is crucial.

Project description:Background The CAVA (Ultrasound-Accelerated Catheter-Directed Thrombolysis Versus Anticoagulation for the Prevention of Post-Thrombotic Syndrome) trial did not show a reduction of post-thrombotic syndrome (PTS) after additional ultrasound-accelerated catheter-directed thrombolysis in patients with acute iliofemoral deep vein thrombosis at 1-year follow-up. This prespecified analysis of the CAVA trial aimed to determine the impact of additional thrombolysis on outcomes of PTS at long-term follow-up. Methods and Results Patients aged 18 to 85 years with a first-time acute iliofemoral deep vein thrombosis were included and randomly assigned (1:1) to either standard treatment plus ultrasound-accelerated catheter-directed thrombolysis or standard treatment alone. The primary outcome was the proportion of PTS (Villalta score ≥5 on 2 occasions ≥3 months apart or venous ulceration) at the final follow-up visit. Additionally, PTS according to the International Society on Thrombosis and Haemostasis (ISTH) consensus definition was assessed to allow external comparability. Major bleedings were the main safety outcome. At a median follow-up of 39.0 months (interquartile range, 23.3-63.8), 120 patients (79.8%) participated in the final follow-up visit: 62 from the intervention group and 58 from the standard treatment group. PTS developed in 19 (30.6%) versus 26 (44.8%) patients, respectively (odds ratio [OR], 0.54; 95% CI, 0.26 to 1.15 [P=0.11]), with an absolute difference between groups of -14.2% (95% CI, -32.0% to 4.8%). Using the ISTH consensus definition, a significant reduction in PTS was observed (29 [46.8%] versus 40 [69.0%]) (OR, 0.40; 95% CI, 0.19-0.84 [P=0.01]) with an absolute difference between groups of -22.2% (95% CI, -39.8% to -2.8%). No new major bleedings occurred following the 12-month follow-up. Conclusions The impact of additional ultrasound-accelerated catheter-directed thrombolysis on the prevention of PTS was found to increase with time. Although this study was limited by its sample size, the overall findings indicate a reduction of mild PTS without impact on quality of life. Registration URL: https://www.clinicaltrials.gov; Unique identifier: NCT00970619.

Dataset Information

The Effect of Growth Hormone Therapy on Cardiac Outcomes in Noonan Syndrome: Long Term Follow-up Results

Objective

Methods

Results

Conclusion

Publications

The Effect of Growth Hormone Therapy on Cardiac Outcomes in Noonan Syndrome: Long Term Follow-up Results

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets