Cardiac examination in children with Laron syndrome undergoing mecasermin therapy

2018 ◽  
Vol 31 (6) ◽  
pp. 675-679 ◽  
Author(s):  
Nurdan Erol ◽  
Metin Yıldız ◽  
Ayla Güven ◽  
Ayse Yıldırım
Keyword(s):  
Growth Hormone ◽  
Pulmonary Hypertension ◽  
Demographic Data ◽  
Hormone Deficiency ◽  
Cardiac Anomaly ◽  
Recessive Trait ◽  
Laron Syndrome ◽  
Congenital Cardiac Anomaly ◽  
Normal Ranges ◽  
Receive Treatment

Abstract Background: Laron syndrome (LS), which can be defined as primary growth hormone resistance or insensitivity, is a rare genetic disease inherited by an autosomal recessive trait. Although it is undistinguishable from growth hormone deficiency, LS has high levels of growth hormone, but insulin-like growth factor (IGF-1) cannot be synthesized. Mecasermin treatment is the only option for the patients who suffer from LS. This study aims to research cardiac findings of children with LS, who receive treatment with mecasermin. Methods: The study enrolled five children four males and one female, 4 M/1 F with LS, two of whom were siblings with a mean age of 6.3±2.1 years, a body weight of 13.36±4.74 kg, a height of 88±8.7 cm, and a body mass index (BMI) of 16.47±3.35. Their demographic data were obtained from their family and files. The children received mecasermin via subcutaneous injection at 0.04–0.12 μg/kg doses twice per day. The duration of mecasermin treatment was 8–53 months. All of them were examined clinically by electrocardiogram and echocardiogram. Results: Their cardiac examinations were normal, except for one case, who had systolic murmur at cardiac auscultation. Arrhythmia was not observed on their electrocardiograms. The echocardiograms did not show a significant congenital cardiac anomaly. Their cardiac measure and functions were within normal ranges. The echocardiogram of the child with the murmur showed mitral and tricuspid insufficiency. The Doppler images showed pulmonary hypertension findings. These findings were proven by angiography. The vasoreactivity test results of that patient were negative. No reason could be found for the observed pulmonary hypertension. We diagnosed this finding as a primary pulmonary hypertension and Bosentan therapy was started. Conclusions: In this study, we showed that cardiac findings were consistent with previous studies. To the best of our knowledge, the observed pulmonary hypertension in children with LS, who received treatment with or without mecasermin, is reported for first time in the literature.

scholarly journals Assessment of the performance of the Brazilian Portuguese Nottingham Health Profile in adult growth hormone deficiency and pulmonary hypertension

F1000Research ◽  
2021 ◽  
Vol 9 ◽  
pp. 1399
Author(s):  
Alice Heaney ◽  
Rafael W. R. de Oliveira ◽  
Mariana Bizzi ◽  
Ricardo Amorim Correa ◽  
Monica Corso Pereira ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Pulmonary Hypertension ◽  
Growth Hormone Deficiency ◽  
Nottingham Health Profile ◽  
Hormone Deficiency ◽  
Health Profile ◽  
Adult Growth Hormone Deficiency ◽  
Adult Growth ◽  
The Impact ◽  
Disease Specific

Background: The Nottingham Health Profile (NHP) is a generic measure of perceived distress that has been used widely as an outcome measure in clinical practice and trials. The availability of two Brazilian datasets provided the opportunity to assess the psychometric performance of the NHP in different populations - adult growth hormone deficiency (GHD) and pulmonary hypertension (PH). The purpose of the study was to see how valuable the NHP could be in assessing outcomes in diseases where no disease-specific measures are available. Methods: Secondary analyses were performed with NHP data. Patients diagnosed with adult GHD or PH were administered the NHP during clinic visits on two occasions, two weeks apart. A disease-specific measure of quality of life (QoL) was also administered to the relevant sample of patients on each occasion. Results: The psychometric properties of the NHP were good for both disease groups. As expected, both samples reported high scores on energy level, the PH sample scored high on physical functioning and the GHD sample on emotional reactions. For both samples, most of the NHP sections were able to distinguish between groups of respondents with different ratings of perceived general health. While most sections of the NHP were relatively highly correlated with the QoL measures, pain and sleep did not seem to be important predictors of QoL in either of the samples. Conclusions: The use of the NHP in adult GHD and PH populations in Brazil is not recommended as there are high-quality disease-specific measures available for each disease. However, where no disease-specific measures are available, the NHP can provide good descriptive information of the impact of disease on different patient populations.

scholarly journals Diagnosis and Management of Neuroendocrine Disorders of Survivors of Brain Tumors

2021 ◽  
pp. 1-9
Author(s):  
Dana Erickson ◽  
Diane Donegan
Keyword(s):  
Quality Of Life ◽  
Growth Hormone ◽  
Brain Tumors ◽  
Hormone Deficiency ◽  
Adult Growth ◽  
Adults And Children ◽  
Receive Treatment ◽  
High Level

Advances in the treatment of brain tumors have led to an increase in the number of survivors of this disease. Consequently, the long-term complications associated with past and current treatments are becoming more apparent. Of relevance to patients who receive treatment of brain tumors are the potential neuroendocrine complications that develop either acutely or several years following treatment. Presentation may differ between adults and children (e.g., short stature or adult growth hormone deficiency) but in both settings can complicate treatment and impact quality of life. The risk for the development of these complications depends on the location of the tumor (proximity to the pituitary/hypothalamus) and/or the treatment delivered (chemotherapy/surgery/radiation). Given the potential overlap in symptoms attributable to the underlying brain tumor and neuroendocrine dysfunction, a high level of suspicion, appropriate investigation, and administration of treatment may reduce morbidity and mortality for patients with brain tumors experiencing neuroendocrine dysfunction.

scholarly journals A Rare Cause of Pulmonary Hypertension in a 4-Year-Old Toddler: Association of Cor Triatriatum Sinister and Pulmonary Arteriovenous Malformation

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Can Yilmaz Yozgat ◽  
Erkan Cakir ◽  
Hakan Yazan ◽  
Hafize Otcu Temur ◽  
Kahraman Yakut ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Arteriovenous Malformation ◽  
Pulmonary Arteries ◽  
Venous Hypertension ◽  
Pulmonary Arteriovenous Malformation ◽  
Cor Triatriatum ◽  
Cardiac Anomaly ◽  
Congenital Cardiac Anomaly ◽  
Cor Triatriatum Sinister ◽  
Arteries And Veins

Cor triatriatum sinister is a rare congenital cardiac anomaly. The anomaly is caused by a fibromuscular membrane that divides the left atrium into two cavities. This membrane can lead to the obstruction of left atrial flow and also create pulmonary venous hypertension. Pulmonary arteriovenous malformation (PAVM) is notorious for its aberrant blood flow between the pulmonary arteries and veins. Herein, we report a case of a 4-year-old toddler who had a unique form of pulmonary hypertension presenting with cor triatriatum sinister and diffuse PAVM. After the surgical treatment of cor triatriatum sinister, both pulmonary arteriovenous malformation and pulmonary hypertension disappeared.

scholarly journals Assessment of the performance of the Brazilian Portuguese Nottingham Health Profile in adult growth hormone deficiency and pulmonary hypertension

F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 1399
Author(s):  
Alice Heaney ◽  
Rafael W. R. de Oliveira ◽  
Mariana Bizzi ◽  
Ricardo Amorim Correa ◽  
Monica Corso Pereira ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Pulmonary Hypertension ◽  
Growth Hormone Deficiency ◽  
Nottingham Health Profile ◽  
Hormone Deficiency ◽  
Health Profile ◽  
Adult Growth Hormone Deficiency ◽  
Adult Growth ◽  
The Impact ◽  
Disease Specific

Background: The Nottingham Health Profile (NHP) is a generic measure of perceived distress that has been used widely as an outcome measure in clinical practice and trials. The availability of two Brazilian datasets provided the opportunity to assess the psychometric performance of the NHP in different populations - adult growth hormone deficiency (GHD) and pulmonary hypertension (PH). The purpose of the study was to see how valuable the NHP could be in assessing outcomes in diseases where no disease-specific measures are available. Methods: Secondary analyses were performed with NHP data. Patients diagnosed with adult GHD or PH were administered the NHP during clinic visits on two occasions, two weeks apart. A disease-specific measure of quality of life (QoL) was also administered to the relevant sample of patients on each occasion. Results: The psychometric properties of the NHP were good for both disease groups. As expected, both samples reported high scores on energy level, the PH sample scored high on physical functioning and the GHD sample on emotional reactions. For both samples, most of the NHP sections were able to distinguish between groups of respondents with different ratings of perceived general health. While most sections of the NHP were relatively highly correlated with the QoL measures, pain and sleep did not seem to be important predictors of QoL in either of the samples. Conclusions: The use of the NHP in adult GHD and PH populations in Brazil is not recommended as there are high-quality disease-specific measures available for each disease. However, where no disease-specific measures are available, the NHP can provide good descriptive information of the impact of disease on different patient populations.

scholarly journals Cor Triatriatum Sinistrum

2021 ◽  
Vol 21 (2) ◽  
pp. e324-326
Author(s):  
Al Rumitha Al Sabri ◽  
Niranjan Joshi ◽  
Hamood Al Kindi ◽  
Khalfan S Al Senaidi
Keyword(s):  
Heart Failure ◽  
Pulmonary Hypertension ◽  
Male Infant ◽  
Surgical Excision ◽  
University Hospital ◽  
Cor Triatriatum ◽  
Uneventful Recovery ◽  
Cardiac Anomaly ◽  
Sultan Qaboos University ◽  
Congenital Cardiac Anomaly

Cor triatriatum sinistrum (CTS) is a rare congenital cardiac anomaly characterised by an abnormal septum within the left atrium impairing blood flow to the left ventricle. We report the case of a two-month-old male infant who presented with symptoms of heart failure since the age of two weeks. He was admitted to a local hospital and was managed with antibiotics because of the impression of pneumonia. Due to persistent unresolved tachypnoea and tachycardia, he was referred to Sultan Qaboos University Hospital, Muscat, Oman, in 2019 for cardiac evaluation which confirmed a diagnosis of isolated CTS with severe stenosis and pulmonary hypertension. He underwent an urgent surgical excision of the membrane with uneventful recovery. Keywords: Cor Triatriatum Sinistrum; Congenital Heart Disease; Pulmonary Hypertension; Heart Failure; Case Report; Oman.

scholarly journals Etiology of growth hormone deficiency in children and adolescents

2013 ◽  
Vol 141 (1-2) ◽  
pp. 35-40
Author(s):  
Katarina Mitrovic ◽  
Tatjana Milenkovic ◽  
Sladjana Todorovic ◽  
Rade Vukovic ◽  
Ivana Rakocevic ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Growth Retardation ◽  
Early Recognition ◽  
Demographic Data ◽  
Body Height ◽  
Age At Diagnosis ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Inadequate Response

Introduction. Growth hormone deficiency (GHD) can be isolated or associated with deficiency of other pituitary gland hormones. According to age at diagnosis, causes of GHD are divided into congenital or acquired, and according to etiology into recognized and unknown. Objective. We analyzed etiology and prevalence of GHD, demographic data at birth, age, body height (BH) and bone age at diagnosis as well as the frequency of other pituitary hormone deficiencies. Methods. The study involved 164 patients (109 male). The main criterion for the diagnosis of GHD was inadequate response of GH after two stimulation tests. The patients were classified into three groups: idiopathic, congenital and acquired GHD. Results. Idiopathic GHD was confirmed in 57.9% of patients, congenital in 11.6% and acquired in 30.5%. The mean age at diagnosis of GHD was 10.1?4.5 years. The patients with congenital GHD had most severe growth retardation (-3.4?1.4 SDS), while the patients with idiopathic GHD showed most prominent bone delay (-3.6?2.3 SDS). The prevalence of multiple pituitary hormone deficiency was 56.1%, in the group with congenital GHD 73.7%, acquired GHD 54.0% and idiopathic GHD 53.7%. The frequency of thyrotropin deficiency ranged from 88.2-100%, of adrenocorticotrophin 57.1-68.8% and of gonadotrophins deficiency 57.1- 63.0%, while deficiency of antidiuretic hormone was 2.0-25.0%. Conclusion. Although regular BH measurements enable early recognition of growth retardation, patients? mean age and degree of growth retardation indicate that GHD is still diagnosed relatively late. A high incidence of other pituitary hormone deficiencies requires a detailed investigation of the etiology of disorders and evaluation of all pituitary functions in each child with confirmed GHD.

Cor triatriatum with a left upper anomalous pulmonary venous return to the innominate vein

2013 ◽  
Vol 24 (3) ◽  
pp. 546-548 ◽  
Author(s):  
Claire Galoin-Bertail ◽  
Marielle Gouton
Keyword(s):  
Pulmonary Hypertension ◽  
Atrial Septal Defect ◽  
Septal Defect ◽  
Venous Return ◽  
Innominate Vein ◽  
Cor Triatriatum ◽  
Cardiac Anomaly ◽  
Congenital Cardiac Anomaly ◽  
Cor Triatriatum Sinister ◽  
Anomalous Pulmonary Venous Return

AbstractCor triatriatum sinister is an uncommon congenital cardiac anomaly accounting for 0.1% of all congenital cardiac malformations, with an anomalous venous return being a frequently associated condition. We present the case of a 14-year-old girl misdiagnosed as having an atrial septal defect with pulmonary hypertension who actually had a cor triatriatum with a left upper anomalous pulmonary venous return to the innominate vein.

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