Abstract:
:Gaucher disease is an autosomal-recessive lysosomal storage disease characterised by the accumulation of glucocerebroside in macrophages; it is caused by mutations in glucocerebrosidase gene-1 in many organ tissues such as the liver, spleen, and bone marrow. Its different clinical subtypes, according to the presence and severity of neurological symptoms, are as follows: type I, non-neuronopathic (95%); type II, acute neuronopathic; and type III, chronic neuronopathic. Type IIIC is a rare subgroup characterised by cardiovascular involvement as well as eye-movement disorders and late-onset neurological symptoms. In such cases, homozygous D409H is the most frequently detected mutation. In this article, we report the case of a patient, aged 15 years and 8 months, with complaints of syncope and a diagnosis of type IIIC Gaucher disease.
journal_name
Cardiol Youngjournal_title
Cardiology in the youngauthors
Kör Y,Keskin M,Başpınar Odoi
10.1017/S1047951117000579subject
Has Abstractpub_date
2017-09-01 00:00:00pages
1426-1429issue
7eissn
1047-9511issn
1467-1107pii
S1047951117000579journal_volume
27pub_type
杂志文章,评审abstract:BACKGROUND:In very low birth weight infants, persistence of a patent ductus arteriosus results in morbidity and mortality. Therapies to close the ductus are effective, but clinical outcomes may depend on the accuracy of diagnosis and the timing of administration. The objective of the present study was to characterise t...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117001081
更新日期:2017-11-01 00:00:00
abstract:OBJECTIVE:Efficient diagnosis of an underlying genetic aetiology in a patient with congenital heart disease is essential to optimising clinical care. Copy number variants are one aetiology of congenital heart disease; the majority are identifiable by targeted fluorescence in situ hybridisation or array comparative geno...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951113001868
更新日期:2015-01-01 00:00:00
abstract::The neonate with functionally univentricular physiology presents unique challenges to the cardiac team. An integrated approach that applies working knowledge of cardiac anatomy, cardiopulmonary physiology, and basic principles of intensive care is essential to guide management of each individual patient. This requires...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/s1047951104006304
更新日期:2004-02-01 00:00:00
abstract::A 5-year-old girl presented with chronic fatigue and extreme exercise intolerance. After countless doctor visits, investigations, and hospital admissions, striking desaturation during exercise test pointed to a cardiovascular problem. Desaturation as a result of right-to-left shunting through a patent foramen ovale du...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951118002044
更新日期:2019-02-01 00:00:00
abstract::We describe a patient with the rare association of the heart in the left chest, congenitally corrected transposition, pulmonary atresia and an intact ventricular septum. There were associated fistulous communications between the morphologically left ventricle and the coronary arteries. Diagnosis was made by echocardio...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/s1047951100009227
更新日期:2000-05-01 00:00:00
abstract::Communications between the pulmonary artery and left atrium cause cyanosis. The images document serial haemodynamic changes in such a fistula from fetal life to the postnatal period with a successful transcatheter intervention. ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951118000616
更新日期:2018-10-01 00:00:00
abstract::Improvement in operative survival of patients with hypoplastic left heart syndrome has led to increasing emphasis on prevention of interstage mortality. Many centres have improved interstage results through programmes of home monitoring following discharge after the Norwood (Stage 1) operation. Experience with heighte...
journal_title:Cardiology in the young
pub_type: 杂志文章,评审
doi:10.1017/S1047951111001600
更新日期:2011-12-01 00:00:00
abstract::Neonates and small infants have unique characteristics that make it possible to obtain echocardiographic views that are inaccessible in older patients. A high transsternal approach through the cartilaginous sternum and the thymus gland allows visualisation of a short-axis view of the pulmonary valve. This view should ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951115001845
更新日期:2016-04-01 00:00:00
abstract::We report a case of successful, life-saving implantation of a covered Cheatham Platinum stent, an all-in-one NuDEL catheter system, in an adult with aortic rupture after bare-metal stenting for re-coarctation of the aorta. ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117000142
更新日期:2017-08-01 00:00:00
abstract::An intact atrial septum places infants with hypoplasia of the left heart into a group with an extremely high rate of mortality. We report a neonate, diagnosed antenatally, who was delivered by Caesarian section in the cardiac theatre, urgently placed onto cardiopulmonary bypass, and who then underwent an atrial septec...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951107000819
更新日期:2007-08-01 00:00:00
abstract::Improvements in the care of children with cardiomyopathy, CHDs, and acquired heart disease have led to an increased number of children surviving with advanced heart failure. In addition, the advent of more durable mechanical circulatory support options in children has changed the outcome for many patients who otherwis...
journal_title:Cardiology in the young
pub_type: 杂志文章,评审
doi:10.1017/S1047951116000184
更新日期:2016-06-01 00:00:00
abstract::Large volumes of data and multiple computing platforms are now universal components of paediatric cardiovascular medicine, but are in a constant state of evolution. Often, multiple sets of related data reside in disconnected "silos", resulting in clinical, administrative, and research activities that may be duplicativ...
journal_title:Cardiology in the young
pub_type: 杂志文章,评审
doi:10.1017/S1047951116001268
更新日期:2017-05-01 00:00:00
abstract::We describe 10 children with endomyocardial fibrosis who underwent surgical treatment between 1978 and 1999. Seven were male and 3 female, with an age range from 4 to 15 years, having a mean age of 11 years. All were in the final stage of heart failure. Three had biventricular disease, 6 had involvement of the right v...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/s1047951101000129
更新日期:2001-03-01 00:00:00
abstract:OBJECTIVE:To investigate the epidemiological characteristics of Kawasaki disease in Jilin province of China and explore its clinical features. METHODS:The medical records of children with Kawasaki disease hospitalised in the First Affiliated Hospital of Jilin University and Yanbian University between January, 2000 and...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951110000375
更新日期:2010-08-01 00:00:00
abstract::We report three cases of an abnormal finding of duplicated left pulmonary artery: two of these occurring in children with Kabuki syndrome and configuring the setting of a pseudo-pulmonary sling without any clinical or cardiac cross-sectional evidence of tracheal compression. The other case instead represents duplicate...
journal_title:Cardiology in the young
pub_type: 杂志文章,评审
doi:10.1017/S1047951115000281
更新日期:2016-02-01 00:00:00
abstract::We present two cases of percutaneous Sapien XT valve-in-valve implantation in the tricuspid position: a 20-year-old man with severe congenital pulmonary stenosis and percutaneous valvuloplasty, who required surgical implantation of two protheses, pulmonary and tricuspid, and a 12-year-old boy with CHD and a degenerate...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117000786
更新日期:2017-10-01 00:00:00
abstract::Infants with hypoplastic left heart syndrome often experience difficulty with oral feeding, which contributes to growth failure, morbidity, and mortality. In response to feeding difficulty, clinicians often change the bottle nipple, and thus milk flow rate. Slow-flow nipples have been found to reduce the stress of fee...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951116000251
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND:There is no standard dose or protocol for beta-blocker administration as preconditioning in children undergoing coronary CT angiography. METHODS:A total of 63 consecutive patients, with a mean age of 10.0±3.1 years, who underwent coronary CT angiography to assess possible coronary complications were enrolle...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S104795111800118X
更新日期:2018-10-01 00:00:00
abstract::Although extrarenal manifestations of haemolytic-uraemic syndrome are not frequent, myocardial dysfunction should be given special consideration because of the importance of proper early haemodynamic management and potential complications. We report the case of a 21-month-old child with haemolytic-uraemic syndrome who...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951115002759
更新日期:2016-06-01 00:00:00
abstract:BACKGROUND:Complete transposition is the most common form of neonatal cyanotic heart disease. The management of this condition has changed markedly in the last decade and there appears to be a significant variation between centres in terms of pre-operative management. OBJECTIVES/METHODS:We surveyed all paediatric card...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/s104795110000812x
更新日期:2000-09-01 00:00:00
abstract:BACKGROUND:Adults with CHD often exhibit complex cardiac abnormalities, whose management requires specific clinical and surgical expertise. To enable easier access of these patients to highly specialised care, we implemented a collaborative programme that incorporates medical and surgical specialists belonging to both ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117001664
更新日期:2018-01-01 00:00:00
abstract:OBJECTIVES:The purpose of our study was to assess the prevalence and progression, during childhood and adolescence, of dilation of the neo-aortic root, and neo-aortic valvar regurgitation, and to identify risk factors for such dilation and regurgitation, after the arterial switch operation. METHODS:We included all pat...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951106000953
更新日期:2006-10-01 00:00:00
abstract::VACTERL association and Scimitar syndrome are rare congenital diseases. In this study, we report on a neonate with prenatal suspicion of VACTERL association and small left-sided cardiac structures, which, only on postnatal angiography, could be revealed to be part of a Scimitar syndrome. As this is the second reported...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951114000924
更新日期:2015-03-01 00:00:00
abstract::One of the important complications of transcatheter occlusion of the patent duct by insertion of either the Rashkind double umbrella or coil devices is intravascular haemolysis, particularly the severe form which occurs in 0.5-0.6% of cases. The incidence of subclinical or mild intravascular haemolysis including morph...
journal_title:Cardiology in the young
pub_type: 临床试验,杂志文章
doi:10.1017/s1047951100007393
更新日期:1999-01-01 00:00:00
abstract:OBJECTIVE:To determine styles of coping, that is personal ways of dealing with problems, and social support, or support from the social environment, in a cohort of adults with congenital heart disease. METHODS:We subjected 362 patients with congenital heart disease, aged from 20 to 46 years, belonging to five diagnost...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951104002033
更新日期:2004-04-01 00:00:00
abstract:BACKGROUND:Assessment of right ventricular size and function is an important part of the clinical cardiac evaluation; however, these quantitative measures are challenging by echocardiography. Automated software could be useful in place of manual measurements and qualitative assessment. This study evaluates a semi-autom...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951119001641
更新日期:2019-09-01 00:00:00
abstract:BACKGROUND:Anomalous left coronary artery from the pulmonary artery is a rare congenital heart disease (CHD) with diverse clinical presentations despite the same anatomy. Factors determining this heterogeneous presentation are not well understood. METHOD AND RESULTS:We retrospectively investigated 14 patients (12 fema...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951119003299
更新日期:2020-03-01 00:00:00
abstract:OBJECTIVES:The objectives of this study were to compare the quality-of-life scores of Malaysian children with CHD and their healthy siblings, to determine the level of agreement between proxy-reports and child self-reports, and to examine variables that have an impact on quality of life in those with CHD. METHODS:Pare...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117000166
更新日期:2017-09-01 00:00:00
abstract::SummaryThe vast majority of patients with complete transposition present during either the neonatal period or early infancy. Almost always the diagnosis and the categorization of associated lesions can be established by cross-sectional echocardiography. Doppler techniques usually provide enough information about flows...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S104795110000007X
更新日期:1991-01-01 00:00:00
abstract::A female neonate, born at term, presented with complex cardiac anatomy dominated by right isomerism and infra-diaphragmatic totally anomalous pulmonary venous connection. Surgical repair was performed using circulatory arrest under deep hypothermia. In the postoperative period, the patient could not be weaned off mech...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951105001836
更新日期:2005-12-01 00:00:00