scholarly journals Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach

2015 ◽  
Vol 2 (2) ◽  
pp. 76-92 ◽  
Author(s):  
Robert Hinton ◽  
Kim McBride ◽  
Steven Bleyl ◽  
Neil Bowles ◽  
William Border ◽  
...  
Keyword(s):  
Cardiovascular Malformations

scholarly journals Filamin A Regulates Cardiovascular Remodeling

2021 ◽  
Vol 22 (12) ◽  
pp. 6555
Author(s):  
Sashidar Bandaru ◽  
Chandu Ala ◽  
Alex-Xianghua Zhou ◽  
Levent M. Akyürek
Keyword(s):  
Transcription Factors ◽  
Respiratory Diseases ◽  
Cell Function ◽  
Actin Binding ◽  
Cardiovascular Development ◽  
Filamin A ◽  
Cardiovascular Malformations ◽  
Experimental Animal Models ◽  
Actin Networks ◽  
Cardiovascular Remodeling

Filamin A (FLNA) is a large actin-binding cytoskeletal protein that is important for cell motility by stabilizing actin networks and integrating them with cell membranes. Interestingly, a C-terminal fragment of FLNA can be cleaved off by calpain to stimulate adaptive angiogenesis by transporting multiple transcription factors into the nucleus. Recently, increasing evidence suggests that FLNA participates in the pathogenesis of cardiovascular and respiratory diseases, in which the interaction of FLNA with transcription factors and/or cell signaling molecules dictate the function of vascular cells. Localized FLNA mutations associate with cardiovascular malformations in humans. A lack of FLNA in experimental animal models disrupts cell migration during embryogenesis and causes anomalies, including heart and vessels, similar to human malformations. More recently, it was shown that FLNA mediates the progression of myocardial infarction and atherosclerosis. Thus, these latest findings identify FLNA as an important novel mediator of cardiovascular development and remodeling, and thus a potential target for therapy. In this update, we summarized the literature on filamin biology with regard to cardiovascular cell function.

The causes and underlying developmental mechanisms of congenital cardiovascular malformations: A critical review

1987 ◽  
Vol 28 (S3) ◽  
pp. 411-431 ◽  
Author(s):  
Harold J. Bruyere ◽  
Steve A. Kargas ◽  
Jay M. Levy ◽  
John M. Opitz ◽  
Jay Bernstein
Keyword(s):  
Critical Review ◽  
Cardiovascular Malformations ◽  
Developmental Mechanisms

Incidence and types of congenital cardiovascular malformations in Japanese trisomy 21 fetuses around 20 weeks

2000 ◽  
Vol 40 (2) ◽  
pp. 117-122 ◽  
Author(s):  
Shinichi Miyabara ◽  
Masahiko Ando ◽  
Kaoru Suzumori ◽  
Makoto Nishibatake ◽  
Nakamichi Saito ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Cardiovascular Malformations

scholarly journals Congenital cardiovascular malformations: Questions on inheritance

1989 ◽  
Vol 14 (3) ◽  
pp. 756-763 ◽  
Author(s):  
Charlotte Ferencz ◽  
Joann A. Boughman ◽  
Catherine A. Neill ◽  
Joel I. Brenner ◽  
Lowell W. Perry
Keyword(s):  
Cardiovascular Malformations

Increased Prevalence of Ventricular Septal Defect: Epidemic or Improved Diagnosis

PEDIATRICS ◽  
1989 ◽  
Vol 83 (2) ◽  
pp. 200-203
Author(s):  
Gerard R. Martin ◽  
Lowell W. Perry ◽  
Charlotte Ferencz
Keyword(s):  
Ventricular Septal Defect ◽  
Septal Defect ◽  
Ductus Arteriosus ◽  
Coarctation Of The Aorta ◽  
Cardiovascular Malformations ◽  
Ventricular Septal Defects ◽  
Live Births ◽  
Septal Defects ◽  
Clinical Diagnoses ◽  
Control Study

The Baltimore-Washington Infant Study is an ongoing case-control study of congenital cardiovascular malformations in infants in whom the clinical diagnoses have been confirmed by echocardiography, catheterization, surgery, or autopsy. An increase in the prevalence of ventricular septal defects was detected in 1,494 infants with congenital cardiovascular malformations between 1981 and 1984. The prevalence of congenital cardiovascular malformations increased from 3.6 to 4.5 per 1,000 live births (P<.025) and the prevalence of ventricular septal defect increased from 1.0 to 1.6 per 1,000 live births (P< .001). The increase in ventricular septal defects accounted for the total increase in congenital cardiovascular malformations. The prevalence of isolated ventricular septal defect increased from 0.67 to 1.17 per 1,000 live births (P<.001). The prevalence of ventricular septal defect with associated coarctation of the aorta, patent ductus arteriosus, atrial septal defect, and pulmonic stenosis did not change. The prevalence of ventricular septal defect diagnosed by catheterization, surgery, and autopsy did not change; however, defects diagnosed by echocardiography increased from 0.30 to 0.70 per 1,000 live births (P<.001). It is concluded that the reported increase in prevalence of ventricular septal defect is due to improved detection of small, isolated ventricular septal defects and that there is no evidence of an "epidemic."

CARDIOVASCULAR MALFORMATIONS IN TURNER'S SYNDROME

PEDIATRICS ◽  
1964 ◽  
Vol 33 (6) ◽  
pp. 919-925
Author(s):  
Christopher R. Rainier-Pope ◽  
Russell D. Cunningham ◽  
Alexander S. Nadas ◽  
John F. Crigler
Keyword(s):  
Cardiovascular Disease ◽  
Coarctation Of The Aorta ◽  
Turner's Syndrome ◽  
Cardiovascular Malformations ◽  
Turner’S Syndrome ◽  
Pulmonic Stenosis ◽  
Cardiovascular Abnormality ◽  
Normal Limits

1. Cardiovascular disease associated with Turner's syndrome is more frequent than hitherto reported. In this study, 36 patients were investigated and it was found that in 16 (44%) there was some form of cardiovascular abnormality. 2. Pulmonic stenosis was found to be as frequent as the more commonly reported coarctation of the aorta. 3. Patients with typical Turner's syndrome, who are chromatin negative, may have coarctation of the aorta or pulmonic stenosis. When buccal smears are chromatin positive, stature is within normal limits, or hypertelorism is present, the most likely cardiovascular lesion will be pulmonic stenosis.

Late diagnosis of pulmonary agenesis

2021 ◽  
Vol 14 (10) ◽  
pp. e245233
Author(s):  
Diana Alexandra Pimenta ◽  
Filipa Lemos Aguiar ◽  
Beatriz Celeiros Fernandes ◽  
Rui Rolo
Keyword(s):  
Early Childhood ◽  
Clinical Presentation ◽  
Lung Parenchyma ◽  
Asthma Diagnosis ◽  
Cardiovascular Malformations ◽  
Surgical Interventions ◽  
Pulmonary Agenesis ◽  
History Of ◽  
Lung Infections ◽  
Respiratory Complaints

Pulmonary agenesis is defined as the complete absence of one or both lungs, including the bronchi, bronchioles, vasculature and lung parenchyma. Most of these malformations are detected in early childhood. A residual number remains asymptomatic and undiagnosed until adulthood. The clinical presentation is wide, ranging from asymptomatic to respiratory complaints like dyspnoea, respiratory distress and a history of recurrent lung infections. This case presents a 54-year-old woman with complaints of coughing, dyspnoea for medium exertion and wheezing for a couple of months. Based on the results of complementary diagnosis methods, right pulmonary agenesis was diagnosed without other malformations. Simultaneously, an asthma diagnosis was also performed. The treatment of pulmonary agenesis is symptomatic. Simultaneous cardiovascular malformations could require surgical interventions. This case demonstrates that pulmonary agenesis may remain undiagnosed, be identified incidentally, and have a good and long prognosis.

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