Talk:Cardiovascular System - Abnormalities

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Congenital heart disease in the newborn requiring early intervention

Korean J Pediatr. 2011 May;54(5):183-91. Epub 2011 May 31.

Yun SW. Source Department of Pediatrics, Chung-Ang University College of Medicine, Seoul, Korea.


Although antenatal diagnostic technique has considerably improved, precise detection and proper management of the neonate with congenital heart disease (CHD) is always a great concern to pediatricians. Congenital cardiac malformations vary from benign to serious conditions such as complete transposition of the great arteries (TGA), critical pulmonary and aortic valvular stenosis/atresia, hypoplastic left heart syndrome (HLHS), obstructed total anomalous pulmonary venous return (TAPVR), which the baby needs immediate diagnosis and management for survival. Unfortunately, these life threatening heart diseases may not have obvious evidence early after birth, most of the clinical and physical findings are nonspecific and vague, which makes the diagnosis difficult. High index of suspicion and astute acumen are essential to decision making. When patent ductus arteriosus (PDA) is opened widely, many serious malformations may not be noticed easily in the early life, but would progress as severe acidosis/shock/cyanosis or even death as PDA constricts after few hours to days. Ductus dependent congenital cardiac lesions can be divided into the ductus dependent systemic or pulmonary disease, but physiologically quite different from each other and treatment strategy has to be tailored to the clinical status and cardiac malformations. Inevitably early presentation is often regarded as a medical emergency. Differential diagnosis with inborn error metabolic disorders, neonatal sepsis, persistent pulmonary hypertension of the newborn (PPHN) and other pulmonary conditions are necessary. Urgent identification of the newborn at such high risk requires timely referral to a pediatric cardiologist, and timely intervention is the key in reducing mortality and morbidity. This following review deals with the clinical presentations, investigative modalities and approach to management of congenital cardiac malformations presenting in the early life.

PMID: 21829408

This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Spontaneous Closure of Muscular Trabecular Ventricular Septal Defect: Comparison of Defect Positions

Acta Paediatr. 2011 Apr 22. doi: 10.1111/j.1651-2227.2011.02333.x. [Epub ahead of print] Miyake T, Shinohara T, Inoue T, Marutani S, Takemura T. Source Department of Pediatrics, Kinki University School of Medicine, Osakasayama, Japan. Abstract Aim:  To evaluate the timing and frequency of spontaneous closure of the muscular trabecular ventricular septal defect (VSD). Methods:  We performed a historical cohort study for which 150 patients <3 months of age (median age, 9 days) diagnosed as having a muscular trabecular VSD were selected. Median age at latest follow-up was 2.8 years. Another 32 patients diagnosed after 3 months of age were also reviewed. Using color Doppler, defects were classified into 3 groups: anterior, apical, and midventricular. Results:  Spontaneous closure occurred in 126 patients (84%): anterior, 36 of 47 (83%); apical, 26 of 31 (84%); and midventricular, 64 of 72 (89%). Multivariate analyses showed a lower frequency of spontaneous closure for patients of age of ≥20 days at initial echocardiography (hazard ratio 0.60, 95% confidence interval [CI] 0.39 to 0.89) and for anterior and apical muscular trabecular VSD (hazard ratio 0.66, 95% CI 0.47 to 0.95). The prevalence of the midventricular muscular trabecular VSD was significantly lower in patients ≥3 months of age at initial echocardiography than in those <3 months (p = 0.010). Conclusion:  We infer that midventricular muscular trabecular VSD tends to close spontaneously earlier and more frequently than either anterior or apical muscular trabecular VSD.

Acta Paediatrica © 2011 Foundation Acta Paediatrica.

PMID: 21517965

Racial/Ethnic Disparities in Risk of Early Childhood Mortality Among Children With Congenital Heart Defects

Pediatrics. 2011 Apr 18. [Epub ahead of print]

Nembhard WN, Salemi JL, Ethen MK, Fixler DE, Dimaggio A, Canfield MA. Source Departments of Epidemiology and Biostatistics and. Abstract Background: Infants with congenital heart defects (CHDs) have increased risk of childhood morbidity and mortality. However, little is known about racial/ethnic differences in early childhood mortality. Patients and Methods: We conducted a retrospective cohort study with data from the Texas Birth Defect Registry on 19 530 singleton, live-born infants with a CHD and born January 1, 1996, to December 31, 2003, to non-Hispanic (NH) white, NH black, and Hispanic women. Texas Birth Defect Registry data were linked to Texas death records and the National Death Index to ascertain deaths between January 1, 1996, and December 31, 2005. Kaplan-Meier survival estimates were computed, and hazard ratios (HRs) and 95% confidence intervals (CIs) were calculated from multivariable Cox-proportional hazard regression models to determine the effect of maternal race/ethnicity on mortality for selected CHD phenotypes. Results: After adjusting for covariates, compared with NH white children, NH black children had increased early childhood mortality risk for transposition of the great arteries (HR: 2.04 [95% CI: 1.40-2.97]), tetralogy of Fallot (HR: 1.85 [95% CI: 1.09-3.12]), pulmonary valve atresia without ventricular septal defect (VSD) (HR: 2.60 [95% CI: 1.32-5.12]), VSD (HR: 1.56 [95% CI: 1.19-2.03]), and atrial septal defect (HR: 1.34 [95% CI: 1.08-1.66]). Hispanic children had higher mortality risk for pulmonary valve atresia without VSD (HR: 1.76 [95% CI: 1.06-2.91]) and hypoplastic left heart syndrome (HR: 1.51 [95% CI: 1.13-2.02]). Conclusions: We provide evidence that supports racial/ethnic disparities in early childhood mortality among infants with CHDs. Identifying infants with the greatest risk of early childhood mortality will facilitate development of interventions and policies to mitigate these risks.

PMID: 21502234


Features and outcomes in utero and after birth of fetuses with myocardial disease

Int J Pediatr. 2010;2010:628451. Epub 2010 Oct 3.

Fesslova V, Mongiovì M, Pipitone S, Brankovic J, Villa L. Source Center of Fetal Cardiology, Policlinico San Donato IRCCS, Via Morandi 30, San Donato Milanese, 20097 Milan, Italy.


Objectives. Ninety-one fetuses with dilated or hypertrophic cardiomyopathy (DCM, HCM) and myocarditis were studied. Results. Group 1 "DCM" included 19 fetuses: 13 with hydrops (FH) and 5 with associated extracardiac anomalies (ECAs) (15.8%). Group 2 "Myocarditis" included twelve fetuses, having 11 with FH. Group 3 "HCM" included sixty fetuses: 26 had associated ECAs, 17 had maternal diabetes, and 17 were "idiopathic"; however, in one case, a metabolic disorder was found postnatally, and 4 had familiarity for HCM. Outcomes. Ten cases opted for termination of pregnancy. Two cases with DCM and 1 with HCM were lost at follow-up. Out of the cases that continued pregnancy, with known follow-up, mortality was 68.75% in Group 1, 63.6% in Group 2, and 31.3% in Group 3 (the majority with severe ECAs). Surviving cases with DCM and myocarditis improved, 2 with HCM worsened, 6 remained stable, and 26 improved or normalized. Conclusions. Our data show more severe prognosis in DCM and myocarditis and forms with severe associated ECAs.

PMID 20976307

Elevated glucose induces congenital heart defects by altering the expression of tbx5, tbx20, and has2 in developing zebrafish embryos

Liang J, Gui Y, Wang W, Gao S, Li J, Song H. Birth Defects Res A Clin Mol Teratol. 2010 Jun;88(6):480-6.

BACKGROUND: Maternal diabetes increases the risk of congenital heart defects in infants, and hyperglycemia acts as a major teratogen. Multiple steps of cardiac development, including endocardial cushion morphogenesis and development of neural crest cells, are challenged under elevated glucose conditions. However, the direct effect of hyperglycemia on embryo heart organogenesis remains to be investigated.

METHODS: Zebrafish embryos in different stages were exposed to D-glucose for 12 or 24 hr to determine the sensitive window during early heart development. In the subsequent study, 6 hr post-fertilization embryos were treated with either 25 mmol/liter D-glucose or L-glucose for 24 hr. The expression of genes was analyzed by whole-mount in situ hybridization.

RESULTS: The highest incidence of cardiac malformations was found during 6-30 hpf exposure periods. After 24 hr exposure, D-glucose-treated embryos exhibited significant developmental delay and diverse cardiac malformations, but embryos exposed to L-glucose showed no apparent phenotype. Further investigation of the origin of heart defects showed that cardiac looping was affected earliest, while the specification of cardiac progenitors and heart tube assembly were complete. Moreover, the expression patterns of tbx5, tbx20, and has2 were altered in the defective hearts.

CONCLUSIONS: Our data demonstrate that elevated glucose alone induces cardiac defects in zebrafish embryos by altering the expression pattern of tbx5, tbx20, and has2 in the heart. We also show the first evidence that cardiac looping is affected earliest during heart organogenesis. These research results are important for devising preventive and therapeutic strategies aimed at reducing the occurrence of congenital heart defects in diabetic pregnancy.

PMID: 20306498

Incidence of congenital heart defects in the Czech Republic--current data

Ceska Gynekol. 2010 May;75(3):221-42.

(Article in Czech)

The study presents current results of analysis of CHD incidences in the Czech Republic in the 1994 - 2008 period. Children born with a CHD make more than 36% out of all children born with a congenital anomaly. CHD themselves represents an important part (more than 40%) of all diagnosed congenital anomalies in the Czech Republic. Over the period of the study there was a slight increase of diagnosed CHD during 1994 - 1999 followed by a slight decrease from 2000 with an exception of 2007 year. The most frequent of diagnosed CHD were ventricular septal defect (Q21.0) and atrial septal defect (Q21.1). Both defects incidences changes influence not only a total CHD but also a total congenital anomalies incidence. An influence of prenatal diagnostics among the five selected CHD was most important in hypoplastic left heart syndrome (Q23.4), less so in others. In prenatal diagnostics group, it is necessary to distinguish between those anomalies, which led to pregnancy termination (parts of both chromosomal and non-chromosomal syndromes and/or association with other severe anomalies) and those in which pregnancy leads to a delivery (late diagnostics, operabile defects, parental decision). CHD can be a part of chromosomal syndromes. In our study, in prenatally diagnosed CHD it was more than 42%. A presence of other associated diagnoses of congenital anomalies in births will significantly influence infant mortality and morbidity.

Clinical outcome in Down syndrome patients with congenital heart disease

Cir Cir. 2010 May-Jun;78(3):245-50.

[Article in English, Spanish]

Martínez-Quintana E, Rodríguez-González F, Medina-Gil JM, Agredo-Muñoz J, Nieto-Lago V.

Complejo Hospitalario Universitario Insular-Materno Infantil, Las Palmas de Gran Canaria, Spain. Abstract BACKGROUND: Long-term complications of Down syndrome patients with congenital heart disease are poorly known.

METHODS: We carried out a retrospective study of Down syndrome patients with congenital heart disease and patients with atrioventricular septal defect with and without Down syndrome.

RESULTS: Between 2004 and 2008, 317 patients with congenital heart disease were followed-up in the Adult Congenital Heart Disease Unit. Of these patients, 19 (6%) with a mean age of 26.8 +/- 8.1 years had Down syndrome. Atrioventricular septal defect was the most frequent congenital heart disease(63%) followed by ventricular septal defect (26%). Ten patients (53%) were operated on during childhood. Three of these patients required reoperation during adulthood (two patients due to left ventricle outflow tract obstruction and one patient due to left atrioventricular valve insufficiency). Four patients (21%) had Eisenmenger syndrome with improvement of functional class in those treated with bosentan, two patients (10.5%) had bacterial endocarditis and two patients (10.5%) died. No significant differences were seen in left atrioventricular valve insufficiency between atrioventricular septal defect in patients with and without Down syndrome (1.5 +/- 0.9 vs. 1.7 +/- 0.8, p = 0.689).

CONCLUSIONS: Left atrioventricular valve insufficiency and left ventricle outflow tract obstruction were the most frequent long-term complications requiring surgical reintervention in patients with atrioventricular septal defect.

PMID: 20642908


Repair of atrial septal defects on the perfused beating heart

Tex Heart Inst J. 2009;36(5):425-7.

Pendse N, Gupta S, Geelani MA, Minhas HS, Agarwal S, Tomar A, Banerjee A. Source Department of Cardiovascular & Thoracic Surgery, Govind Ballabh Pant Hospital, Delhi University, New Delhi 110002, India. Abstract We present our experience in repairing all varieties of atrial septal defects with the aid of continuous antegrade perfusion of an empty beating heart with normothermic blood. From September 1999 through December 2008, 266 patients (140 females and 126 males; ages 3-53 yr) underwent atrial septal defect closure by this method. Of these patients, 236 had ostium secundum, 21 had sinus venosus, and 9 had ostium primum defects. Three patients also had rheumatic mitral incompetence requiring mitral valve implantation, and 2 also had mitral stenosis requiring valvuloplasty. Preoperative diagnoses were established by 2-dimensional echocardiography and color-flow Doppler study. The size of atrial septal defects ranged from 2 cm through 4.5 cm. Direct repair was performed in 52 patients, and the rest received an autologous pericardial patch. Normothermic perfusion at 4 to 5 mL/(kg.min) kept the heart beating throughout the procedure. All patients survived the procedure with no complication. Twelve patients with ostium secundum atrial septal defect were extubated on the table and discharged within 24 hours of hospitalization. They are categorized as ambulatory cases. All patients remained in sinus rhythm. One patient with a residual shunt required revision of a patch; postoperative echocardiography showed normal left ventricular function and no residual shunt. Total intensive care unit stay was less than 24 hours for all patients.The primary aim of the beating-heart technique is to avoid ischemic-reperfusion injury. It is a safe and effective technique for the closure of all varieties of atrial septal defect.

PMID: 19876418