Abstract:
:We describe what is, to the best of our knowledge, a previously unreported association in patients with similar facial features, skin and joint laxity, of lengthening and tortuosity of systemic, pulmonary and coronary vessels. We evaluated 12 patients with similar phenotypes, from eight different families. Detailed echocardiographic and angiographic evaluations were performed in all, and biopsies of the skin in seven. All patients have elongated facies, prominent ears, micrognathia and laxity of their joints. Angiographic pictures showed a varying degree of lengthening and tortuosity of systemic, pulmonary, and coronary arteries. Pulsatile carotid arteries formed cervical masses in 2 patients, and three had severe renal arterial stenoses. All showed varying degrees of branch and peripheral pulmonary arterial stenosis, necessitating placement of stents in six. Biopsy of the skin proved normal in all seven patients studied, thus excluding cutis laxa, Ehlers-Danlos and Marfan syndromes. The constellation of abnormalities suggests a genetic syndrome of connective tissue etiology. Further genetic studies, and gene mapping, are underway.
journal_name
Cardiol Youngjournal_title
Cardiology in the youngauthors
Al Fadley F,Al Manea W,Nykanen DG,Al Fadley A,Bulbul Z,Al Halees Zdoi
10.1017/s1047951100008854keywords:
subject
Has Abstractpub_date
2000-11-01 00:00:00pages
582-9issue
6eissn
1047-9511issn
1467-1107journal_volume
10pub_type
杂志文章abstract::Cognitive, functional, educational achievement and behavioural measures were employed to assess neurobehavioral status in 57 of 60 participants who were initially enrolled in the Baltimore-Washington Infant Study, and who survived surgical correction of complete transposition (concordant atrioventricular and discordan...
journal_title:Cardiology in the young
pub_type: 杂志文章,多中心研究
doi:10.1017/s1047951100006867
更新日期:1998-07-01 00:00:00
abstract::Retroaortic course of left innominate vein is a rare venous anomaly which is usually associated with CHD. Isolated retroaortic innominate vein is exceedingly rare with only a handful of reported cases. We report an otherwise healthy newborn with isolated retroaortic innominate vein and right aortic arch, a combination...
journal_title:Cardiology in the young
pub_type: 杂志文章,评审
doi:10.1017/S1047951119001380
更新日期:2019-08-01 00:00:00
abstract::Berry syndrome is a rare CHD. Approximately 29 cases have been described in the literature. Surgical correction has been successfully performed as well. We report the case of a newborn diagnosed with Berry syndrome who was subsequently diagnosed with trisomy 13. Cytogenetic analysis should be performed before surgical...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951115000256
更新日期:2016-01-01 00:00:00
abstract::We report here the case of a 27-year-old woman with Noonan syndrome presenting with ventricular fibrillation. After successful defibrillation, echocardiography revealed hypertrophic cardiomyopathy associated with left ventricular outflow tract obstruction. Normal echocardiographic cardiac structure and function were r...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951110001708
更新日期:2011-04-01 00:00:00
abstract:OBJECTIVE:To examine the clinical utility of the Pediatric Symptom Checklist 17 for identifying psychosocial concerns and improving access to psychology services within a paediatric cardiology clinic. METHOD:Parents of 561 children (aged 4-17 years) presenting for follow-up of CHD, acquired heart disease, or arrhythmi...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951115001900
更新日期:2016-08-01 00:00:00
abstract::It is controversial to observe or close symptomatic congenital coronary artery fistula in infants. We herein describe a medium-sized symptomatic congenital coronary artery fistula that underwent rapid spontaneous closure in an infant aged <3 months. ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951114001127
更新日期:2015-04-01 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::Patients with pulmonary regurgitation after tetralogy of Fallot repair have impaired aerobic capacity; one of the reasons is the decreasing global ventricular performance at exercise, reflected by decreasing peak oxygen pulse. The aims of our study were to evaluate the impact of pulmonary valve replacement on peak oxy...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951115002504
更新日期:2016-10-01 00:00:00
abstract::Introduction Neurodevelopmental abnormalities are common in children with CHD and are the highest-priority concerns for parents and professionals following cardiac surgery in childhood. There is no additional routine monitoring of development for children with CHD in the United Kingdom; hence, neurodevelopmental conce...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117002918
更新日期:2018-04-01 00:00:00
abstract:OBJECTIVE:The goal of this study was to see whether the open anastomosis technique using vacuum-assisted venous drainage at the time of the Fontan procedure was associated with decreased post-operative pleural effusion. METHODS:We analysed a subgroup of patients with a functional single ventricle who underwent non-fen...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951110001010
更新日期:2010-12-01 00:00:00
abstract:BACKGROUND:The aim of this study is to investigate the prevalence of subclinical rheumatic heart disease in schoolchildren aged 5-18 by using portable echocardiography in Ankara, Turkey. METHODS:The portable echocardiography screening was performed by a paediatric cardiologist for all of the cases. The mean age of 255...
journal_title:Cardiology in the young
pub_type: 杂志文章,多中心研究
doi:10.1017/S1047951119002075
更新日期:2019-10-01 00:00:00
abstract::To determine whether cardiac catheterisation procedures for low birth weight neonatesr < or = 2.5 kg carries a greater risk of complications compared with neonates > 2.5 kg, we conducted a single-centre retrospective case–control study. From 01/03 to 01/09, 46 consecutive neonates < 2.5 kg at the time of cardiac cathe...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951112002247
更新日期:2013-10-01 00:00:00
abstract:BACKGROUND:Acute rheumatic carditis is still an important cause of cardiac failure in developing countries. B-type natriuretic peptides, especially N-terminal segment of its prohormone are now recognised as essential parts of cardiologic evaluation. Increased plasma concentrations of B-type natriuretic peptide and its ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951110000089
更新日期:2010-06-01 00:00:00
abstract::Congenital complete tracheal rings are usually associated with pulmonary slings. We report a rare association of congenital complete tracheal rings with hypoplastic left heart variant. A term infant with diagnosis of a mildly hypoplastic mitral valve, unicuspid aortic valve, and moderately hypoplastic aortic arch with...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951118002391
更新日期:2019-03-01 00:00:00
abstract:BACKGROUND:We have used the Amplatzer ductal occluder for transcatheter closure of large persistently patent arterial ducts, and used our experience to assess the safety and efficacy of the device in young children and infants. METHODS AND PATIENTS:We used the Amplatzer ductal occluder prospectively in 43 patients wit...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951105000570
更新日期:2005-06-01 00:00:00
abstract:OBJECTIVE:Protein-losing enteropathy is an infrequent but severe condition occurring after Fontan procedure. The multifactorial pathogenesis remains unclear and no single proposed treatment strategy has proven universally successful. Therefore, we sought to describe different treatment strategies and their effect on cl...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951120000864
更新日期:2020-05-01 00:00:00
abstract::A ventricular septal defect in transposition of the great arteries is frequently closely related to the cardiac valves. The valvar function after arterial switch operation of patients with transposition of the great arteries and ventricular septal defect or intact ventricular septum was compared. We analysed the funct...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951111000084
更新日期:2011-08-01 00:00:00
abstract::May-Thurner syndrome is a rare clinical entity involving venous obstruction of the left lower extremity. The May-Thurner syndrome is a phenomenon commonly described as an acquired stenosis of the left common iliac vein secondary to compression of the left common iliac vein between the right common iliac artery and the...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951114001115
更新日期:2015-04-01 00:00:00
abstract::Adult survivors of aortic interruption is extremely rare. Diagnosis mostly depends on additional imaging with CT and MRI. We present a rare case of acquired complete interruption of the aorta that was found incidentally at the time of coronary angiography. This finding was confirmed by CT scan. ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951114001693
更新日期:2015-03-01 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:BACKGROUND:CHD is the leading cause of mortality due to birth defects. Array comparative genomic hybridisation (aCGH) detects submicroscopic copy number changes and may improve identification of the genetic basis of CHD. METHODS:This is a retrospective analysis of 1252 patients from a regional referral centre who had ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951114001838
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::We report the case of a 12-day-old newborn affected by coarctation of the aorta and intraventricular defect who underwent coarctectomy and pulmonary artery banding. On post-operative day 7, the patient suffered from pulseless electric activity due to tension pneumothorax. Point-of-care ultrasound was performed during ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951115001213
更新日期:2016-02-01 00:00:00
abstract::Interest in brain natriuretic peptide (BNP) and N-terminal pro-brain natriuretic peptide (NT-proBNP) in the management of children with CHD has increased. There are, however, no current guidelines for their routine use. The aim of this review article is to provide an update on the data regarding the use of BNP/NT-proB...
journal_title:Cardiology in the young
pub_type: 杂志文章,评审
doi:10.1017/S1047951114002133
更新日期:2015-03-01 00:00:00
abstract::We report a case of unroofed coronary sinus not associated with the persistent left superior vena cava. Definite diagnosis of the unroofed coronary sinus was obtained by trans-oesophageal echocardiography, which revealed the unroofed portion with left-to-right shunt. Real-time three-dimensional trans-oesophageal echoc...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951113002400
更新日期:2015-01-01 00:00:00
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::We report a case in which a meandering right pulmonary vein connecting to the left atrium is associated with hypoplasia of the right lung, horseshoe lung, abnormal pulmonary lobation, and abnormal branching of the pulmonary arteries. We discuss its relationship to the so-called scimitar variant, and to the scimitar sy...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951106000461
更新日期:2006-06-01 00:00:00
abstract:BACKGROUND:Identification of patients with latent rheumatic heart disease by echocardiography presents a unique opportunity to prevent disease progression. Myocardial strain is a more sensitive indicator of cardiac performance than traditional measures of systolic function. OBJECTIVE:The objective of this study was to...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951116002778
更新日期:2017-08-01 00:00:00
abstract::An 8-year-old girl, without any previous medical history, presented with a first short syncope. Physical examination was unremarkable. Transthoracic echocardiography revealed a thin-walled, echo-free cystic structure adjacent to the posterior wall of the left ventricle, and compressing it moderately. Other echocardiog...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/s1047951101001056
更新日期:2001-11-01 00:00:00
abstract::An interarterial course of anomalous left main coronary artery originating from the right aortic coronary sinus of valsalva is a rare condition among anomalous aortic origin of the coronary artery. Various surgical options are available. We performed an alternative procedure, that is, mobilisation of the pulmonic root...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951111002113
更新日期:2012-10-01 00:00:00