Association of Mechanical Properties and Collagen Content With Valve Morphology in Ascending Thoracic Aortic Aneurysmal Tissue

2011 ◽  
Author(s):  
Joseph E. Pichamuthu ◽  
Julie A. Phillippi ◽  
Deborah A. Cleary ◽  
Douglas W. Chew ◽  
John Hempel ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Thoracic Aortic Aneurysm ◽  
Normal Population ◽  
High Rate ◽  
Prophylactic Surgery ◽  
Predictive Capability ◽  
Biomechanical Phenomena ◽  
Heart Malformation ◽  
Mechanical Models ◽  
Normal Diameter

Bicuspid aortic valve (BAV) is the most common congenital heart malformation occurring in 1–2% of the population with a high rate of morbidity [1]. There is a significantly higher rate of dilation of the aortic root in adults with a BAV when compared to the normal population and this condition is often associated with ascending thoracic aortic aneurysm (ATAA). ATAA is characterized as an enlargement of the aorta to twice its normal diameter. If left untreated, ATAA can lead to aortic dissection or rupture. Therefore, ATAA is recommended for prophylactic surgery when its diameter reaches about 5.5 cm. However, in certain high-risk cases, such as patients with BAV, ATAA may rupture when its diameter is less than 5.5 cm. Since ATAA dissection and rupture are biomechanical phenomena, better mechanical models are needed to more accurately predict these events over the predictive capability of diameter alone.

FETAL CARDIAC DISEASE: THE PATHOLOGIST'S PERSPECTIVE

2013 ◽  
Vol 24 (2) ◽  
pp. 60-75
Author(s):  
MICHAEL ASHWORTH
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Western Europe ◽  
Heart Defects ◽  
Normal Population ◽  
The European Union ◽  
Detection Rates ◽  
Heart Malformation ◽  
Antenatal Detection

In the European Union, it is estimated that 36,000 children are born every year with congenital heart disease and that a further 3000 who are diagnosed with congenital heart disease die as a result of termination of pregnancy, late fetal death or early neonatal death. In a normal population, the risk of a woman having a child with a congenital heart malformation is of the order of 0.8–1%, the risk rising to 2–3%, if a previous pregnancy was affected by heart disease and approaching 6% if the mother herself has a congenital heart defect. There is great variation between countries in the antenatal detection of heart defects, being lowest in those countries without ultrasound antenatal screening programmes (8–11%), but in Western Europe the detection rates vary between 19% and 48%. High-resolution echocardiography enables assessment of precise structures during the second trimester or even earlier.

Congenital heart malformation of new born in post mortem computed tomography

2013 ◽  
Vol 61 (S 01) ◽  
Author(s):  
B Vogel ◽  
H Gulbins ◽  
H Reichenspurner ◽  
A Heinemann ◽  
H Vogel
Keyword(s):  
Computed Tomography ◽  
Congenital Heart ◽  
Post Mortem ◽  
New Born ◽  
Heart Malformation

Pubertal status of children with congenital heart disease

2021 ◽  
pp. 1-5
Author(s):  
Zahra Ghaemmaghami ◽  
Zahra Khajali ◽  
Mohammad Dalili ◽  
Zahra Fotovati ◽  
Maryam Moradian ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Children And Adolescents ◽  
Congenital Heart ◽  
Normal Population ◽  
Large Sample Size ◽  
Pubertal Status ◽  
Major Aspect ◽  
Pubertal Onset ◽  
Pubertal Stages

Abstract Background: CHD influences many aspects of life in affected individuals. Puberty, a major aspect of development, is a concern for patients and families. Objectives: We investigated pubertal status in children and adolescents with CHD. Methods: Patients with CHD aged 6–18 were enrolled. Cardiac diagnoses were confirmed using history, examination, and paraclinical tools including echocardiography. An endocrinologist determined pubertal stages, and the second Tanner stages for pubarche (P2), thelarche (B2), and gonadarche (G2) were considered as the pubertal onset. A study with a large sample size on pubertal onset in a normal population was used for comparison. Results: Totally, 451 patients (228 girls and 223 boys) at a median (10th–90th percentile) age of 10.79 (8.02–14.28) years for the girls and 10.72 (8.05–14.03) years for the boys were enrolled. The median (10th–90th percentile) ages at B2 and P2 in the girls with CHD were 10.77 (9.55–12.68) and 10.53 (9.39–12.28) years, respectively, which were higher than the median ages of 9.74 (8.23–11.94) and 10.49 (8.86–12.17) years in the normal girls. The median (10th–90th percentile) ages at G2 and P2 in the boys with CHD were 11.04 (8.85–13.23) and 11.88 (9.78–13.46) years, correspondingly, which were higher than the median ages of 9.01 (6.00–11.84) and 10.34 (6.84–13.10) years in the normal boys. Conclusions: Pubertal onset could be delayed in children with CHD when compared with the normal population.

scholarly journals Atrial Septal Defect - A New Perspective on the Cardiac Dyspnea

2018 ◽  
Vol 15 (2) ◽  
pp. 53-57
Author(s):  
Larisa Renata Roșan ◽  
Vlad Alin Pantea ◽  
Otilia Anca Ţica ◽  
Ovidiu Ţica ◽  
Mădălina Ioana Moisi ◽  
...  
Keyword(s):  
Atrial Septal Defect ◽  
Congenital Heart ◽  
Septal Defect ◽  
First Year ◽  
Cardiac Diseases ◽  
Embryological Development ◽  
Heart Malformation ◽  
New Perspective ◽  
First Year Of Life ◽  
Previous Medical History

AbstractThe congenital cardiac diseases predominately affect the children, as well as the young adults, and they are the consequence of an abnormal embryological development.Atrial septal defect (DSA) is a congenital heart malformation, which can close in the first year of life, being shown by the presence of a communication between the left atrium and right atrium with the left-to-right shunt, and it subsequently produces some complications.We report the case of a 31 years-old-female without previous medical history, who was diagnosed with atrial septal defect.

scholarly journals SOME POSSIBLE CAUSES OF CONGENITAL HEART MALFORMATION

Heart ◽  
1959 ◽  
Vol 21 (1) ◽  
pp. 51-64 ◽  
Author(s):  
G. E. H. Foxon
Keyword(s):  
Congenital Heart ◽  
Heart Malformation

GATA4 Mutations in 357 Unrelated Patients with Congenital Heart Malformation

2010 ◽  
Vol 14 (6) ◽  
pp. 797-802 ◽  
Author(s):  
Tanya L. Butler ◽  
Giorgia Esposito ◽  
Gillian M. Blue ◽  
Andrew D. Cole ◽  
Mauro W. Costa ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Heart Malformation

Association Between Congenital Heart Malformation and Chromosomal Variations

1961 ◽  
Vol 50 (3) ◽  
pp. 217-227 ◽  
Author(s):  
J. A. BÖÖK ◽  
BERTA SANTESSON ◽  
PER ZETTERQVIST
Keyword(s):  
Congenital Heart ◽  
Heart Malformation

scholarly journals The incidence and diagnostics of congenital heart defects in Kaunas infant population during 1999–2005

Medicina ◽  
2008 ◽  
Vol 44 (2) ◽  
pp. 139
Author(s):  
Virginija Dulskienë ◽  
Vilija Malinauskienë ◽  
Ada Azaravièienë ◽  
Renata Kuèienë
Keyword(s):  
Birth Weight ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Epidemiological Methods ◽  
Normal Birth ◽  
Congenital Heart Malformations ◽  
Increased Risk ◽  
Heart Malformation ◽  
Heart Malformations

The objective of this study was to determinate the incidence and diagnostics of congenital heart defects in Kaunas infant population in 1999–2005 and to compare the data obtained with the data of years 1995–1998. Subject and methods. The study population comprised all newborns born in Kaunas city during 1999– 2005. Congenital heart defects were registered based on clinical diagnosis after its verification using the data from consulting centers and pediatric outpatient departments. To assess the incidence of congenital heart malformations in newborn population, we conducted a validated newborn register based on maternal residential district. Modern epidemiological methods were used for data analysis. Results. In 1999–2005, there were 24 069 live births in Kaunas: 2231 newborns were born with congenital anomalies, 198 had congenital heart malformations. The incidence of congenital heart defects was 8.2 per 1000 live newborns. The majority of congenital heart malformations were diagnosed in delivery units (93.94%). We have analyzed the relationship between birth weight and gestational age of newborns with congenital heart malformations. Newborns with low birth weight were at significantly higher risk of congenital heart malformation than newborns with normal birth weight (OR=3.52, 95% CI, 2.25–5.47). Our data also showed that newborns born before 32 weeks of gestation had a 5-fold increased risk of congenital heart malformation (OR=5.20; 95% CI, 2.50–10.84) and infants born before 37 weeks of gestation had a 4-fold increased risk (OR=4.08; 95% CI, 2.68–6.19) compared with newborns born after 37 weeks of gestation. Conclusions. This study shows that incidence of congenital heart anomalies in Kaunas newborn population was 8.2 cases per 1000 live newborns in 1999–2005. It was determined that during 1999–2005, the number of above-mentioned anomalies diagnosed in delivery units increased by 23%.

Prenatal Diagnosis of Trisomy 2p due to Terminal 2p Duplication including Interstitial Telomeric Sequences

2017 ◽  
Vol 153 (3) ◽  
pp. 117-124 ◽  
Author(s):  
Lyvia Marlet ◽  
Eudeline Alix ◽  
Marianne Till ◽  
Fabienne Raskin-Champion ◽  
Jocelyne Attia ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Heart ◽  
Unusual Case ◽  
Array Cgh ◽  
Partial Trisomy ◽  
Chromosome 2 ◽  
Telomeric Sequences ◽  
Inverted Duplication ◽  
Interstitial Telomeric Sequences ◽  
Heart Malformation

We report on a prenatally diagnosed unusual case of inverted terminal duplication of the short arm of chromosome 2, leading to interstitial telomeric sequences (ITSs) and partial trisomy 2p. To our knowledge, there are only 4 further cases of pure partial trisomy 2p reported prenatally. Here, the mother was referred at 22 weeks of gestation for isolated fetal congenital heart malformation at ultrasound. The karyotype of amniotic fluid cells displayed a large duplication of the short arm of chromosome 2 that was further investigated by array-CGH, which detected a 1-copy gain of 43.75 Mb in chromosome 2 at 2p21p25.3. FISH confirmed the presence of an inverted duplication in the short arm of chromosome 2 involving the region 2p21pter and revealed the presence of ITSs at the breakpoint in chromosome 2p21. This report contributes to the prenatal description of the syndrome. We also discuss the possible mechanisms leading to this duplication and the formation of ITSs which are rarely described in constitutional rearrangements.

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