Abstract:
:Marfan syndrome is a well-described autosomal dominant syndrome with widely variable clinical manifestations. Cardiovascular complications include mitral valve prolapse with or without associated mitral valve insufficiency, aortic root dilatation, and most importantly the occasional development of aortic aneurysms or rupture. Given the inconsistent phenotype along with the potentially life-threatening implications, clinicians are increasingly turning to genetic testing for definitive diagnostic confirmation. It has been well established that mutations in the FBN1 gene encoding the structural protein Fibrillin 1 is the molecular etiology of Marfan syndrome. However, there are numerous patients who meet the Ghent clinical diagnostic criteria for Marfan syndrome who do not have identifiable FBN1 mutations. Recently, mutations in TGFBR1 and TGFBR2 (transforming growth factor beta receptors 1 and 2, respectively) have been shown to result in Loeys-Dietz syndrome, a connective tissue disorder with significant phenotypic overlap with Marfan syndrome. Individuals with this Marfanoid disorder lack the ocular findings of Marfan syndrome and often have dysmorphic features such as unusual facies, cleft palate, and contractures. In addition, Loeys-Dietz syndrome patients often present in childhood with significant cardiovascular problems. This article serves to report an illustrative case of Loeys-Dietz syndrome and reviews the phenotypic consequences of FBN1 and TGFBR1 and TGFBR2 gene mutations.
journal_name
Congenit Heart Disjournal_title
Congenital heart diseaseauthors
Zangwill SD,Brown MD,Bryke CR,Cava JR,Segura ADdoi
10.1111/j.1747-0803.2006.00040.xsubject
Has Abstractpub_date
2006-09-01 00:00:00pages
229-32issue
5eissn
1747-079Xissn
1747-0803pii
CHD040journal_volume
1pub_type
杂志文章abstract::In patients with Kawasaki disease (KD) and coronary artery aneurysms (CAAs), serial evaluation with multiple imaging modalities is recommended to guide risk stratification and management. We present the case of a 7-year-old boy with a history of KD and multiple giant CAAs who developed thrombosis in one of the aneurys...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12131
更新日期:2014-11-01 00:00:00
abstract::There has been a steady rise in the prevalence of severe congenital heart disease (CHD) in adults because of improved treatment and survival during childhood. This has resulted in a shift in CHD morbidity and mortality beyond 18 years of age. The healthcare community must be prepared to meet this new challenge. Adult ...
journal_title:Congenital heart disease
pub_type: 历史文章,杂志文章,评审
doi:10.1111/j.1747-0803.2010.00402.x
更新日期:2010-05-01 00:00:00
abstract::We report on a 3-year-old male who underwent transcatheter stent fenestration of the inferior portion of an extracardiac total cavopulmonary connection in the setting of hypoplastic left heart syndrome. Transhepatic approach, following an unsuccessful attempt from the femoral vein facilitated delivery of a diabolo-sha...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2011.00488.x
更新日期:2011-05-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to identify factors that influence postoperative intensive care unit length of stay (ICULOS) in infants less than 6 months of age undergoing congenital heart surgery. METHODS:Records from a single institution, from January 2000 to December 2000, were reviewed. For analysis, surg...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2006.00027.x
更新日期:2006-07-01 00:00:00
abstract::Scimitar syndrome is characterized by anomalous pulmonary venous drainage of a part or the whole of the right lung into the inferior vena cava (IVC). It is extremely uncommon in scimitar syndrome for the pulmonary veins to drain anomalously to a site other than the IVC. The following case report describes an otherwise...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2011.00513.x
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:Transient elastography (TE) offers a noninvasive correlate with the degree of hepatic fibrosis. However, factors other than fibrosis affect liver stiffness. We sought to determine whether hepatic congestion related to hemodynamics in Fontan circulation influences liver stiffness measurement (LSM) assessed by...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12159
更新日期:2014-09-01 00:00:00
abstract:INTRODUCTION:Perturbations in the CACNA1C-encoded L-type calcium channel α-subunit have been linked recently to heritable arrhythmia syndromes, including Timothy syndrome, Brugada syndrome, early repolarization syndrome, and long QT syndrome. These heritable arrhythmia syndromes may serve as a pathogenic basis for auto...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12371
更新日期:2016-12-01 00:00:00
abstract:OBJECTIVE:Traditionally, karyotype and fluorescence in situ hybridization (FISH) were used for cytogenetic testing of infants with congenital heart disease (CHD) who underwent cardiac surgery at our institution. Recently, chromosome microarray analysis (CMA) has been performed in lieu of the traditional tests. A standa...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12241
更新日期:2015-05-01 00:00:00
abstract::An 18-year-old patient with a window type of patent ductus arteriosus and acquired rheumatic mitral stenosis is reported for its rarity. The pitfalls in the diagnosis and surgical management of this condition are discussed. ...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2011.00558.x
更新日期:2013-01-01 00:00:00
abstract::A 22-year-old female with no medical history presented to the emergency room with 2 weeks of rapidly worsening dyspnea on exertion, orthopnea, and cough. On cardiac auscultation, she was noted to have to-and-fro murmurs and a continuous murmur with signs of right heart failure. Echocardiographic images obtained showed...
journal_title:Congenital heart disease
pub_type: 杂志文章,评审
doi:10.1111/j.1747-0803.2010.00467.x
更新日期:2011-03-01 00:00:00
abstract:AIMS:To outline the etiology, clinical course, short-term survival to discharge and neurological outcome of infants (<1 yr) with new cardiac diagnoses presenting to a pediatric intensive care (PICU) unit with acute cardiac compromise. METHODS:Retrospective search of a computerized database and medical case notes for a...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2010.00430.x
更新日期:2010-09-01 00:00:00
abstract:BACKGROUND:Children and adolescents with congenital heart disease (CHD) and their families require qualified combined medical and psychosocial information, care, and counseling. This study aimed to analyze CHD patients' and parents' perception of disease-specific knowledge, state of health, and impairments experienced ...
journal_title:Congenital heart disease
pub_type: 杂志文章,多中心研究
doi:10.1111/chd.12581
更新日期:2018-05-01 00:00:00
abstract:OBJECTIVE:The 2016 American Board of Pediatrics (ABP) content outline is comprehensive, including more than 50 cardiology-specific objectives within eight content areas. This study complements the quantitative analysis of a Kentucky-wide survey of trainees, pediatricians, and pediatric cardiologists asking them to iden...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12626
更新日期:2018-09-01 00:00:00
abstract:INTRODUCTION:Surveillance and management guidelines for Fontan patients are lacking due to the paucity of evidence in the literature of screening efficacy on outcome measures. METHODS:The Fontan Working Group within the New England Congenital Cardiology Association designed an electronic survey to assess surveillance ...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12854
更新日期:2019-11-01 00:00:00
abstract:OBJECTIVE:Deficient retro-aortic rim has been identified as a risk factor for device erosion following trans-catheter closure of atrial septal defects (ASDs). Transthoracic echocardiography (TTE) is the primary screening method for subjects for possible device closure of ASD, but its reliability in measuring retro-aort...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12226
更新日期:2015-07-01 00:00:00
abstract:BACKGROUND AND AIMS:Patients who underwent a successful repair of the aortic coarctation show chronic hyperdynamic state and normal left ventricular (LV) geometry; however, there are few data regarding the LV systolic function in the long term. Accordingly, we assessed LV systolic mechanics and factors associated with ...
journal_title:Congenital heart disease
pub_type: 杂志文章,多中心研究
doi:10.1111/chd.12310
更新日期:2016-05-01 00:00:00
abstract:OBJECTIVE:We previously identified a pathogenic germline DICER1 variant in a child with transposition of the great arteries who was a member of a family with DICER1 syndrome. In view of a report linking Dicer1 knockout in murine cardiomyocytes to cardiac outflow defects, we investigated the involvement of DICER1 in tra...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12578
更新日期:2018-05-01 00:00:00
abstract:OBJECTIVE:The study aims to assess whether the increasing use of cardiovascular magnetic resonance imaging in place of diagnostic cardiac catheterization in the management of pediatric patients with congenital heart disease has had an impact on pediatric cardiac care. DESIGN:Retrospective analysis of data was used. S...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12032
更新日期:2013-07-01 00:00:00
abstract:OBJECTIVES:To investigate functional health status among adults previously operated for aortic coarctation (CoA) compared with healthy subjects; to assess the influence of medication and exercise capacity on patients' functional health. DESIGN:Questionnaire-based investigation among 119 patients who underwent surgical...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2011.00595.x
更新日期:2011-11-01 00:00:00
abstract:OBJECTIVE:To assess how obesity or diabetes mellitus impacts outcomes in patients undergoing cardiac surgery in pediatric hospitals. DESIGN:A multi-institutional, matched case-control study of the Pediatric Health Information System database was performed. SETTING:Tertiary children's hospitals in the United States. ...
journal_title:Congenital heart disease
pub_type: 杂志文章,多中心研究
doi:10.1111/chd.12325
更新日期:2016-09-01 00:00:00
abstract::This is a case report reviewing the presentation and clinical course of a patient diagnosed with abdominal aortic atresia at the level caudal to the superior mesenteric artery. Patients with abdominal aortic atresia need to be evaluated for associated underlying syndromes or diseases. Although the prognosis for this d...
journal_title:Congenital heart disease
pub_type: 杂志文章,评审
doi:10.1111/j.1747-0803.2010.00454.x
更新日期:2011-05-01 00:00:00
abstract:OBJECTIVE:The aims of this study were to compare the level of posttraumatic stress disorder between adults with and without congenital heart disease, and to examine the correlates of posttraumatic stress disorder (e.g., sociodemographics). DESIGN:Cross-sectional. SETTING:Two university-affiliated heart hospitals in T...
journal_title:Congenital heart disease
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1111/chd.12452
更新日期:2017-05-01 00:00:00
abstract::The origin of pulmonary artery branches (particularly the left pulmonary artery) from the ascending aorta is a rare condition. We detected prominent hypoplasia of the main and right pulmonary arteries in a 3.5-month-old 3.7 kg female infant who had tetralogy of Fallot with origin of the left pulmonary artery in the as...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2011.00542.x
更新日期:2012-05-01 00:00:00
abstract:OBJECTIVE:Arterial switch operation has become the treatment of choice for neonates with transposition of the great arteries. The most important step of the procedure is transferring the coronary arteries to the neoaorta successfully. This study shows the impact of coronary anatomy on early mortality and morbidity afte...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12295
更新日期:2016-03-01 00:00:00
abstract::So-called heterotaxy affects lateralization of the thoracic and abdominal organs. Congenital malformations may be present in one of several organ systems. Cardiac involvement includes both structural and conduction abnormalities. Data regarding arrhythmias in heterotaxy come from case reports and small case series. We...
journal_title:Congenital heart disease
pub_type: 杂志文章,评审
doi:10.1111/chd.12288
更新日期:2016-01-01 00:00:00
abstract:OBJECTIVE:Management of the patients with transposition of the great arteries and intact ventricular septum may be challenging beyond the newborn period. Herein, we would like to present our alternative strategy for training the left ventricle in these patients. METHODS:Six patients with transposition of the great art...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12749
更新日期:2019-05-01 00:00:00
abstract::Protein-losing enteropathy (PLE) is a rare, but serious complication in single ventricle patients after Fontan palliation, and is associated with a 5-year mortality of 46%. We describe a patient with PLE after Fontan palliation who achieved remission with high-dose spironolactone (an aldosterone antagonist), but had t...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2009.00320.x
更新日期:2010-03-01 00:00:00
abstract:PURPOSE:Right ventricular (RV) failure and ventricular dyssynchrony are strong determinants of prognosis in patients with adult congenital heart disease (ACHD). The aim of this study was to investigate the relationship between interventricular dyssynchrony (IVD) using cine-tagged magnetic resonance imaging (MRI) and RV...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12217
更新日期:2015-05-01 00:00:00
abstract:BACKGROUND:Open cardiac surgery has traditionally been the gold standard for repair of ventricular septal defect (VSD). The inherent risks and complications associated with open surgery and the incidence of postoperative residual VSD are significant disadvantages of the open surgical approach. OBJECTIVE:To evaluate th...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12357
更新日期:2016-07-01 00:00:00
abstract::In medical literature, few cases of Rasmussen's aneurysm have been reported until now, and to the best of our knowledge, there has been no description of a case of Rasmussen's aneurysm in childhood. The child described in the case report had a restrictive cardiomyopathy, complicated by pulmonary hypertension, in assoc...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2011.00609.x
更新日期:2013-03-01 00:00:00