scholarly journals OP12.03: First trimester cardiac parameters in the early screening of congenital heart disease (CHD) using high resolution flow imaging mode (e-flow)

2012 ◽  
Vol 40 (S1) ◽  
pp. 90-90 ◽  
Author(s):  
M. Bellotti ◽  
P. Bruzzese ◽  
J. Riparini ◽  
G. C. Rognoni ◽  
A. Marconi ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
High Resolution ◽  
Congenital Heart ◽  
First Trimester ◽  
Flow Imaging ◽  
Early Screening ◽  
Imaging Mode

scholarly journals Genotyping of GATA4 Gene Variant (G296S) in Malaysian Congenital Heart Disease Subjects by Real-Time PCR High Resolution Melting Analysis

2013 ◽  
Vol 32 (2) ◽  
pp. 152-157
Author(s):  
Nora Fawzi ◽  
Ramachandran Vasudevan ◽  
Patimah Ismail ◽  
Mazeni Alwi ◽  
Ahmad Fazli Abdul Aziz ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
High Resolution ◽  
Congenital Heart ◽  
High Resolution Melting ◽  
New Technology ◽  
Cost Effective ◽  
Study Cohort ◽  
Hrm Analysis ◽  
Melting Analysis

Summary Background: Congenital heart disease (CHD) is the most common birth defect; however, the underlying etiology is unrecognized in the majority of cases. GATA-binding protein 4 (GATA4), a cardiac transcription factor gene, has a crucial role in the cardiogenesis process; hence, a number of heterozygote sequence variations were identified as a cause of CHD. G296S heterozygote variant is the most frequently reported GATA4 gene sequence alteration. This study aims to investigate the role of G296S variant of the GATA4 gene in Malaysian CHD subjects. Methods: We have investigated 86 Malaysian CHD subjects with cardiac septation defects for the presence of the GATA4 gene heterozygote variant (G296S) by the new technology of high resolution melting (HRM) analysis. Results: Genotyping of G296S (c.886G>A) by HRM analysis shows that all the sample genotypes were of the wild GG type genotype and the heterozygote mutant GA genotype was totally absent from this study cohort. Conclusions: The results of our study showed that the G296S variant of the GATA4 gene was not associated with the development of CHD in Malaysian subjects. The use of HRM analysis proved a cost-effective, high-throughput, specific and sensitive genotyping technique which eliminates the need for unnecessary sequencing.

Generalized Bone Changes and Thrombocytopenic Purpura in Association with Intrauterine Rubella

PEDIATRICS ◽  
1965 ◽  
Vol 36 (2) ◽  
pp. 264-268
Author(s):  
AARON R. RAUSEN ◽  
ROBERT D. LONDON ◽  
ABRAHAM MIZRAHI ◽  
LOUIS Z. COOPER
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Rubella Virus ◽  
Congenital Heart ◽  
Newborn Infants ◽  
First Trimester ◽  
Long Bones ◽  
Thrombocytopenic Purpura ◽  
Bone Changes ◽  
First Trimester Of Pregnancy

Two newborn infants are presented whose mothers had rubella in the first trimester of pregnancy. Both infants were born with thrombocytopenic purpura and suggestive evidence of a hemolytic disorder. The second infant had congenital heart disease as well. Roentgenographic changes in the metaphyseal ends of several long bones, observed in the first infant at 3 days of age, regressed completely by 2 months of age. The second infant had roentgenographic evidence of metaphyseal changes of a lesser degree, limited to the distal ends of the femora. These changes were no longer present at 6 weeks of age. Both infants were shown to be harboring an interfering agent with the characteristics of the rubella virus.

scholarly journals Pulmonary arterial hypertension populations of special interest: portopulmonary hypertension and pulmonary arterial hypertension associated with congenital heart disease

2019 ◽  
Vol 21 (Supplement_K) ◽  
pp. K37-K45 ◽  
Author(s):  
Laurent Savale ◽  
Alessandra Manes
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Congenital Heart ◽  
Expert Advice ◽  
Portopulmonary Hypertension ◽  
Early Screening ◽  
Pulmonary Arterial

Abstract Guidelines exist for management of pulmonary arterial hypertension (PAH), but information is limited for certain patient subgroups, including adults with portopulmonary hypertension (PoPH) or with PAH associated with congenital heart disease (PAH-CHD). This article discusses screening, clinical management, and prognosis in PoPH and PAH-CHD and, as such, considers the most recent clinical data and expert advice. A multidisciplinary consultation and follow-up by specialists are crucial for management of both PoPH and PAH-CHD, but each condition presents with unique challenges. Development of PoPH most commonly occurs among patients with liver cirrhosis. Initially, patients may be asymptomatic for PoPH and, if untreated, survival with PoPH is generally worse than with idiopathic PAH (IPAH), so early identification with screening is crucial. PoPH can be managed with PAH-specific pharmacological therapy, and resolution is possible in some patients with liver transplantation. With PAH-CHD, survival rates are typically higher than with IPAH but vary across the four subtypes: Eisenmenger syndrome, systemic-to-pulmonary shunts, small cardiac defects, and corrected defects. Screening is also crucial and, in patients who undergo correction of CHD, the presence of PAH should be assessed immediately after repair and throughout their long-term follow-up, with frequency of assessments determined by the patient’s characteristics at the time of correction. Early screening for PAH in patients with portal hypertension or CHD, and multidisciplinary management of PoPH or PAH-CHD are important for the best patient outcomes.

Understanding the Fontan Procedure in Congenital Heart Disease Patients and the Importance of Early Hepatology Referrals: A Case Study

2018 ◽  
Vol 11 (2) ◽  
pp. 95-99
Author(s):  
Alice Chan
Keyword(s):  
Primary Care ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Nurse Practitioners ◽  
Congenital Heart ◽  
Care Setting ◽  
Primary Care Setting ◽  
Fontan Procedure ◽  
Early Screening

Background: Patients with congenital heart disease are surviving into adulthood because of new surgeries developed over the recent decades. One surgery is the Fontan procedure, which is used in patients with only one functioning ventricle. Although it has been saving lives, in the recent years multiple complications have been noted. Objective: To discuss the Fontan procedure and inform nurse practitioners in the primary care setting the importance of early screening and referral because of increasing number of liver complications in these patients. This case study highlights the dilemmas a patient with the Fontan procedure faces as a young adult. Methods: Evidence-based articles from the PubMed and Embase databases were used to support the case study. Results: Patients with the low-pressure Fontan circulation are under chronic passive congestion and have known liver complications such as liver fibrosis, cirrhosis, and protein-losing enteropathy. This can lead to a high-risk dual organ heart–liver transplant. Conclusions: Early screening and referral to a hepatologist are critical in these patients. Implications for Nursing: Since patients with congenital heart disease often present to the primary care setting, nurse practitioners in this area should understand the Fontan procedure and its associated complications so they can effectively manage these patients.

scholarly journals 2076927 Is the Brain-Sparing Effect Described in Fetuses With Congenital Heart Disease Evident in the First Trimester?

2015 ◽  
Vol 41 (4) ◽  
pp. S52
Author(s):  
Reem Abu-Rustum ◽  
M. Fouad Ziade ◽  
Assaad Kesrouani ◽  
Sameer Abu-Rustum ◽  
Linda Daou
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
First Trimester ◽  
Sparing Effect ◽  
The Brain

Reversed end-diastolic umbilical flow in a first-trimester fetus with congenital heart disease

1998 ◽  
Vol 18 (10) ◽  
pp. 1001-1005 ◽  
Author(s):  
Antoni Borrell ◽  
Dolors Costa ◽  
Josep M. Martinez ◽  
M. Teresa Farre ◽  
Montserrat Palacio ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
First Trimester

Color Flow Imaging in Congenital Heart Disease

1986 ◽  
Vol 3 (6) ◽  
pp. 533-540 ◽  
Author(s):  
GUY S. REEDER ◽  
JAMES B. SEWARD ◽  
DONALD J. HAGLER ◽  
A. JAMIL TAJIK
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Flow Imaging ◽  
Color Flow ◽  
Color Flow Imaging
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