Abstract:
:Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded enzyme alpha-N-acetyl neuraminidase. We report a premature male with neonatal-onset type II sialidosis which was associated with left ventricular dysfunction. The clinical presentation and subsequent progression which culminated in his untimely death at 16 months of age are succinctly described. Early-onset cardiovascular involvement as noted in this patient is not well characterised. The case report is supplemented by a comprehensive review of the determinants, characteristics, and the clinical course of cardiovascular involvement in this rare condition.
journal_name
Cardiol Youngjournal_title
Cardiology in the youngauthors
Prasanna P,Sriram CS,Rodriguez SH,Kohli Udoi
10.1017/S1047951120004953subject
Has Abstractpub_date
2021-01-28 00:00:00pages
1-3eissn
1047-9511issn
1467-1107pii
S1047951120004953pub_type
杂志文章abstract::A 34-week premature neonate presented with drug-refractory permanent junctional incessant tachycardia and haemodynamic compromise. The patient underwent successful radiofrequency catheter ablation using a single-catheter approach. The child remains in sinus rhythm, without pharmacological treatment, 2 years after the ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951112000182
更新日期:2012-10-01 00:00:00
abstract:BACKGROUND:This study evaluated the effectiveness of long-term intensive lipid-lowering therapy in children and adolescents with familial hypercholesterolaemia. METHODS:The charts of 89 children and adolescents with heterozygous familial hypercholesterolaemia among ∼1000 patients treated from 1974 to 2008 were reviewe...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951113000528
更新日期:2014-06-01 00:00:00
abstract::Advances in biomedical engineering have led to three-dimensional (3D)-printed models being used for a broad range of different applications. Teaching medical personnel, communicating with patients and relatives, planning complex heart surgery, or designing new techniques for repair of CHD via cardiac catheterisation a...
journal_title:Cardiology in the young
pub_type: 杂志文章,评审
doi:10.1017/S1047951119000398
更新日期:2019-06-01 00:00:00
abstract::We found spontaneous echoes in two teenagers with nephrotic syndrome and profound hypoalbuminemia, both having normal cardiac structure, function and output. The phenomenon disappeared after the level of albumin normalized. In one patient, all spontaneous echoes disappeared following convalescence, the level of albumi...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951104005153
更新日期:2004-10-01 00:00:00
abstract::Myocardial ischaemia and infarction in pulmonary atresia and intact ventricular septum with right ventricular-dependent coronary circulation is a well-established complication. We report an interesting case of an acquired aneurysm in the ventricular septum in a patient who underwent staged palliation. ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951111001120
更新日期:2012-04-01 00:00:00
abstract::Infective endocarditis is a microbial infection of the endothelial surface of the heart, predominantly the heart valves, that is associated with high mortality and morbidity. Few contemporary data exist regarding affected children in our context. AIMS AND OBJECTIVES:We aimed to describe the profile and treatment outc...
journal_title:Cardiology in the young
pub_type: 杂志文章,多中心研究
doi:10.1017/S1047951119002154
更新日期:2019-10-01 00:00:00
abstract:INTRODUCTION:Subclinical hypothyroidism or mild thyroid failure is a common problem in patients without known thyroid disease. METHODS:Demographic and analytical data were collected in 309, of which 181 were male and 128 were female, congenital heart disease (CHD) patients. CHD patients with thyroid-stimulating hormon...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951114001711
更新日期:2015-08-01 00:00:00
abstract::We evaluated the efficiency of non-invasive magnetic resonance coronary angiography in detecting coronary arterial lesions in 106 patients, aged from 4 months to 37 years, with a median of 13 years, with Kawasaki disease. Non-contrast enhanced, free-breathing magnetic resonance coronary angiographic studies using both...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951106001168
更新日期:2006-12-01 00:00:00
abstract:BACKGROUND:The prevalence of mitral valvar prolapse has been reported to be between 0.6 and 21%. The goal of our study was to evaluate its prevalence in young athletes who underwent hand-held echocardiography as a screening mostly in southern California. METHODS:We retrospectively analyzed 1742 echocardiograms that we...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S104795110800245X
更新日期:2008-08-01 00:00:00
abstract:BACKGROUND:Although some prior studies have provided evidence to question the historical belief that pulmonary vascular resistance index ⩾6 Wood Units×m2 should be a contraindication to heart transplantation in children, no national analyses specific to the modern area have addressed this question. METHODS:Data were a...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951114001796
更新日期:2015-08-01 00:00:00
abstract::In this study, we summarise a case of a myofibroma causing mid-aortic syndrome due to obstruction of the distal thoracic and abdominal aorta leading to severe left ventricular dysfunction. The patient was managed with percutaneous intervention via balloon dilation and stent placement. On follow-up, the patient has nor...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951115001936
更新日期:2016-04-01 00:00:00
abstract::To date, no reference values have been provided for right and left atrial filling in normal children. The aim of our study, therefore, was to characterize measurements of superior caval, hepatic, and pulmonary venous flow using Doppler echocardiography in a large group of normal children to reflect the effects of age,...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/s1047951103000283
更新日期:2003-04-01 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::Traditional ambulatory rhythm monitoring in children can have limitations, including cumbersome leads and limited monitoring duration. The ZioTM patch ambulatory monitor is a small, adhesive, single-channel rhythm monitor that can be worn up to 2 weeks. In this study, we present a retrospective cross-sectional analysi...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951118001142
更新日期:2018-10-01 00:00:00
abstract::The anomalous aortic origin of a coronary artery from the wrong sinus of Valsalva with interarterial, intramural, and/or intraconal course is a rare congenital anomaly that is associated with a high risk of sudden death in children. The Congenital Heart Surgeons' Society established the Registry of Anomalous Aortic Or...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951110001095
更新日期:2010-12-01 00:00:00
abstract:BACKGROUND:This study aimed to examine the differences between arterial and inferior caval vein oxygen saturation, fractional oxygen extraction, and the shunt index, which were calculated in the diagnosis of patent ductus arteriosus. METHODS:Twenty-seven preterm infants were included in this study and were divided int...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951113000772
更新日期:2014-08-01 00:00:00
abstract:BACKGROUND:Kawasaki disease, which is characterised by systemic vasculitides accompanied by acute fever, is regularly treated by intravenous immunoglobulin to avoid lesion formation in the coronary artery; however, the mechanism of intravenous immunoglobulin therapy is unclear. Hence, we aimed to analyse the global exp...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117001433
更新日期:2017-11-01 00:00:00
abstract::The Amplatzer septal occluder is an alternative to operative closure of atrial septal defects within the oval fossa. An issue when deploying the device is its distance from the mitral valve. The purpose of this study is to determine how this distance changes with growth of the patient. We identified, through a review ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951104005050
更新日期:2004-10-01 00:00:00
abstract:BACKGROUND:Parental suspicions that the child may possibly take narcotics may be substantiated by hair analysis, which may not only identify the narcotic abuse profile, but also define the minimum period of narcotic usage. OBJECTIVE:A toxicological hair analysis aiming at detecting the presence of amphetamines and can...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951111000667
更新日期:2012-02-01 00:00:00
abstract::We describe a three-year-old boy who presented with recurrent expectoration of bronchial casts six months following creation of a fenestrated lateral tunnel Fontan circulation for pulmonary atresia with intact ventricular septum. Cardiac catheterization demonstrated elevated central venous pressure with two areas of s...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/s1047951101000385
更新日期:2001-05-01 00:00:00
abstract:BACKGROUND:Early weight trends after cardiac surgery in infants from low- and middle-income countries where the majority are undernourished have not been defined. We studied the early post-operative weight trends to identify specific factors associated with early weight loss and poor weight gain after discharge followi...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951119002944
更新日期:2020-01-01 00:00:00
abstract:OBJECTIVES:Our aim was to assess the immediate and short term results of closure of moderate and large patent arterial ducts using the self-expanding and repositionable Amplatzer device. METHOD:We attempted closure in 25 patients (10 Females and 15 males) using the Amplatzer occluder. Their median age was 48 months wi...
journal_title:Cardiology in the young
pub_type: 临床试验,杂志文章
doi:10.1017/s1047951100009124
更新日期:2000-05-01 00:00:00
abstract::Aim We aimed to study the dimensions, systolic and diastolic functions of the left ventricle; dimensions and elasticity of the aorta; and carotid intima-media thickness and flow-mediated dilatation of the brachial artery in mitral valve prolapse. METHODS:The study group consisted of 43 patients (mean age=13.3±3.9) an...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117001950
更新日期:2018-02-01 00:00:00
abstract:BACKGROUND:Fungal endocarditis classically involves dense heterogenous vegetations. However, several patients with fungal infections were noted to have myocardial changes ranging from focal brightening to nodular thickening of chordae or papillary muscles. This study evaluates whether these findings are associated with...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951120003674
更新日期:2020-11-13 00:00:00
abstract:BACKGROUND:Cardiopulmonary bypass is associated with systemic inflammatory response. Steroids suppress this response, although the therapeutic evidence remains controversial. We hypothesised that intravenous steroids in children undergoing open-heart surgery would decrease inflammation leading to better early post-oper...
journal_title:Cardiology in the young
pub_type: 杂志文章,随机对照试验
doi:10.1017/S1047951115000566
更新日期:2016-03-01 00:00:00
abstract:BACKGROUND:Tricuspid regurgitation as a manifestation of an isolated congenital anomaly of the tricuspid valve is rare. Cross-sectional and color Doppler echocardiography allow improved evaluation of tricuspid valvar function. As a result, the heterogeneous category of congenital tricuspid valvar dysplasia may be bette...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/s1047951100004972
更新日期:1999-05-01 00:00:00
abstract::This article is to commemorate and celebrate achievements of Professor Milan Šamánek who passed away on 29 April, 2020. Milan was an excellent and visionary paediatric cardiologist who helped to establish paediatric cardiology as a speciality in Czechoslovakia and several other east European countries in the late 1970...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951120001547
更新日期:2020-09-01 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::Disconnection of a pulmonary artery needs early surgical treatment in order to support the growth of the vessel. However, owing to the high rate of re-stenosis after traditional surgical reconstruction, we developed a hybrid approach involving the creation of pulmonary artery continuity by using autologous or heterolo...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951118001129
更新日期:2018-11-01 00:00:00
abstract:AIM:We aimed to investigate the role of adiponectin in acute rheumatic fever by evaluating correlations with cytokines and acute-phase reactants. METHODS:Patients were divided into three groups by clinical findings. Group 1 included 8 patients with only chorea, Group 2 included 13 patients with arthritis and carditis,...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951114001012
更新日期:2015-06-01 00:00:00