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Journal: Cardiology in the young


Patients with severe right ventricular outflow tract obstruction in tetralogy of Fallot typically have right-to-left shunting, resulting in low pulmonary blood flow and cyanosis. Here we present the case of an infant with tetralogy of Fallot and severe pulmonary valve stenosis, complicated by systemic hypertension, the presence of which altered flow dynamics and possibly prevented cyanosis.

Concepts: Medical terms, Heart failure, Heart, Hematology, Vein, Pulmonary artery, Tetralogy of Fallot, Pulmonary valve stenosis


This study aimed at examining three tilt angle-based positive responses and the time to positive response in a head-up tilt test for children with orthostatic intolerance, and the psychological fear experienced at the three angles during head-up tilt test. A total of 174 children, including 76 boys and 98 girls, aged from 4 to 18 years old (mean 11.3±2.8 years old), with unexplained syncope, were randomly divided into three groups, to undergo head-up tilt test at the angles of 60°, 70° and 80°, respectively. The diagnostic rates and times were analysed, and Wong-Baker face pain rating scale was used to access the children’s psychological fear. There were no significant differences in diagnostic rates of postural orthostatic tachycardia syndrome and vasovagal syncope at different tilt angles during the head-up tilt test (p>0.05). There was a significant difference, however, in the psychological fear at different tilt angles utilising the Kruskal-Wallis test (χ2=36.398, p<0.01). It was mildest at tilt angle 60° utilising the Kolmogorov-Smirnov test (p<0.01). A positive rank correlation was found between the psychological fear and the degree of tilt angle (rs=0.445, p<0.01). Positive response appearance time was 15.1±14.0 minutes at 60° for vasovagal syncope children. There was no significant difference in the time to positive response, at different tilt angles during the head-up tilt test for vasovagal syncope or for postural orthostatic tachycardia syndrome. Hence, it is suggested that a tilt angle of 60° and head-up tilt test time of 45 minutes should be suitable for children with vasovagal syncope.

Concepts: Statistical tests, Cardiology, Statistical significance, Non-parametric statistics, Difference, Orthostatic hypotension, Postural orthostatic tachycardia syndrome, Orthostatic intolerance


Anthracycline chemotherapeutic agents carry the well-recognised risk of cardiotoxicity. Previous methods to evaluate cardiac function are useful, but have significant limitations. We sought to determine the left ventricular strain and strain rate of paediatric cancer patients with normal fractional shortening treated with anthracyclines using the latest ultrasound feature-tracking technology. Patients and methods Echocardiograms on cancer patients before anthracycline exposure and following completion of treatment were retrospectively analysed using Velocity Vector Imaging software in the circumferential and longitudinal planes. The same analysis was performed on matched controls. Only patients with a fractional shortening ≥28% were included.

Concepts: Cancer, Oncology, Chemotherapy, Leukemia, Doxorubicin, Anthracycline, Experimental cancer treatment, Epirubicin


Background: In some inherited connective tissue diseases with involvement of the cardiovascular system, for example, Marfan syndrome, early impairment of left ventricular function, which have been described as Marfan-related cardiomyopathy has been reported. Our aim was to evaluate the left ventricular function in young adults with mitral valve prolapse without significant mitral regurgitation using two-dimensional strain imaging and to determine the possible role of the transforming growth factor-β pathway in its deterioration. Methods: We studied 78 young adults with mitral valve prolapse without mitral regurgitation in comparison with 80 sex-matched and age-matched healthy individuals. Longitudinal strain and strain rates were defined using spackle tracking. Concentrations of transforming growth factor-β1 and β2 in serum were determined by enzyme-linked immunosorbent assays. Results: In 29 patients, classic relapse was identified with a leaflet thickness of ≥ 5 mm; 49 patients had a non-classic mitral valve prolapse. Despite the similar global systolic function, a significant reduction in global strain was found in the classic group (-15.5 ± 2.9%) compared with the non-classic group (-18.7 ± 3.8; p = 0.0002) and the control group (-19.6 ± 3.4%; p < 0.0001). In young adults with non-classic prolapse, a reduction in longitudinal deformation was detected only in septal segments. Transforming growth factor-β1 and β2 serum levels were elevated in patients with classic prolapse as compared with the control group and the non-classic mitral valve prolapse group. Conclusions: These changes in the deformations may be the first signs of deterioration of the left ventricular function and the existence of primary cardiomyopathy in young adults with mitral valve prolapse, which may be caused by increased transforming growth factor-β signalling.

Concepts: Blood, Heart, Marfan syndrome, Mitral valve, Left ventricle, Mitral regurgitation, Mitral valve prolapse, Connective tissue


We report the case of a novel mitochondrial DNA mutation in the MT-ATP8 gene in an infant with tetralogy of Fallot. Next-generation sequencing was applied to sequence whole mitochondrial DNA of the patient. A known Leber’s hereditary optic neuropathy-associated mutation (G9804A), a heteroplasmic T7501C mutation (17%), and a novel C8481 T Pro > Leu missense mutation in the MT-ATP8 gene was identified.

Concepts: DNA, Genetics, Mutation, Evolution, DNA repair, Point mutation, Missense mutation, Nonsense mutation


Objectives: Insulin-like growth factor-1 may serve some regulatory function in the immune system. Rheumatic mitral stenosis is related to autoimmune heart valve damage after streptococcal infection. The aim of this study was to assess the level of insulin-like growth factor-1 and its correlation with the Wilkins score in patients with rheumatic mitral stenosis. Methods: A total of 65 patients with rheumatic mitral stenosis and 62 age- and sex-matched control subjects were enrolled in this study. All subjects underwent transthoracic echocardiography. The mitral valve area and Wilkins score were evaluated for all patients. Biochemical parameters and serum insulin-like growth factor-1 levels were measured. Results: Demographic data were similar in the rheumatic mitral stenosis and control groups. The mean mitral valve area was 1.6±0.4 cm2 in the rheumatic mitral stenosis group. The level of insulin-like growth factor-1 was significantly higher in the rheumatic mitral stenosis group than in the control group (104 (55.6-267) versus 79.1 (23.0-244.0) ng/ml; p=0.039). There was a significant moderate positive correlation between insulin-like growth factor-1 and thickening of leaflets score of Wilkins (r=0.541, p<0.001). Conclusions: The present study demonstrated that serum insulin-like growth factor-1 levels were significantly higher in the rheumatic mitral stenosis group compared with control subjects and that insulin-like growth factor-1 level was also correlated with the Wilkins score. It can be suggested that there may be a link between insulin-like growth factor-1 level and immune pathogenesis of rheumatic mitral stenosis.

Concepts: Immune system, Bacteria, Rheumatic fever, Immunology, Insulin-like growth factor 1, Growth hormone, Mitral valve prolapse, Mitral stenosis


Dilated cardiomyopathy is characterised by dilation and impaired systolic function. We present the case of a child with dilated cardiomyopathy caused by a 624 kb duplication of 6q22.31, which includes the phospholamban gene. The patient also has failure to thrive and developmental delay due to complex cytogenetic abnormalities including a 5p15 deletion associated with Cri du Chat and an 11p15 duplication associated with Russell-Silver syndrome.

Concepts: DNA, Genetics, Chromosome, Cytogenetics, Down syndrome, Genetic disorders, Dilation


IL-27, a member of the IL-12 family, has been involved in maternal tolerance to the foetus and successful pregnancy. Growing evidences indicate that IL-27 plays a crucial role in pregnancy. Aim We carried out the present study in order to investigate whether polymorphisms in the IL27 are associated with the risk for CHDs, including atrial septal defect and ventricular septal defect. Patients and methods We conducted this case-control study among 247 atrial septal defect patients, 150 ventricular septal defect patients, and 368 healthy controls in a Chinese population using polymerase chain reaction-restriction fragment length polymorphism assay.

Concepts: Present, Infant, Epidemiology, Case-control study, Congenital heart disease, Ventricular septal defect, Atrial septal defect, Atrioventricular septal defect


A 10-month-old girl with type I Loeys-Dietz syndrome developed a conspicuous aortic root aneurysm that was well demonstrated on chest X-ray/CT reconstruction. She underwent successful valve-spare repair of the ascending aorta.

Concepts: Heart, Aortic aneurysm, Aortic dissection, Aorta, Marfan syndrome, Ascending aorta, Arteries of the thorax, Aneurysm of sinus of Valsalva


We describe the case of a 27-year-old gentleman who developed late-onset clubbing and cyanosis. Transoesophageal echocardiography revealed a 27-mm ostium secundum atrial septal defect and a large, floppy Eustachian valve directing right atrial blood to the left side of the heart.

Concepts: Blood, Heart, Pulmonary artery, Ventricular septal defect, Atrial septal defect, Foramen ovale, Ostium primum, Cardiac shunt