Talk:Cardiovascular System - Abnormalities

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Cite this page: Hill, M.A. (2021, March 1) Embryology Cardiovascular System - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Cardiovascular_System_-_Abnormalities

2011

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.

Abstract

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

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3145901

This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) 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

2010

Beta-thalassemia

Orphanet J Rare Dis. 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11.

Galanello R, Origa R. Source Dipartimento di Scienze Biomediche e Biotecnologie- Università di Cagliari, Ospedale Regionale, Microcitemie ASL Cagliari, Cagliari, Italy. renzo.galanello@mcweb.unica.it

Abstract

Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union. Three main forms have been described: thalassemia major, thalassemia intermedia and thalassemia minor. Individuals with thalassemia major usually present within the first two years of life with severe anemia, requiring regular red blood cell (RBC) transfusions. Findings in untreated or poorly transfused individuals with thalassemia major, as seen in some developing countries, are growth retardation, pallor, jaundice, poor musculature, hepatosplenomegaly, leg ulcers, development of masses from extramedullary hematopoiesis, and skeletal changes that result from expansion of the bone marrow. Regular transfusion therapy leads to iron overload-related complications including endocrine complication (growth retardation, failure of sexual maturation, diabetes mellitus, and insufficiency of the parathyroid, thyroid, pituitary, and less commonly, adrenal glands), dilated myocardiopathy, liver fibrosis and cirrhosis). Patients with thalassemia intermedia present later in life with moderate anemia and do not require regular transfusions. Main clinical features in these patients are hypertrophy of erythroid marrow with medullary and extramedullary hematopoiesis and its complications (osteoporosis, masses of erythropoietic tissue that primarily affect the spleen, liver, lymph nodes, chest and spine, and bone deformities and typical facial changes), gallstones, painful leg ulcers and increased predisposition to thrombosis. Thalassemia minor is clinically asymptomatic but some subjects may have moderate anemia. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the beta globin gene on chromosome 11, leading to reduced (beta+) or absent (beta0) synthesis of the beta chains of hemoglobin (Hb). Transmission is autosomal recessive; however, dominant mutations have also been reported. Diagnosis of thalassemia is based on hematologic and molecular genetic testing. Differential diagnosis is usually straightforward but may include genetic sideroblastic anemias, congenital dyserythropoietic anemias, and other conditions with high levels of HbF (such as juvenile myelomonocytic leukemia and aplastic anemia). Genetic counseling is recommended and prenatal diagnosis may be offered. Treatment of thalassemia major includes regular RBC transfusions, iron chelation and management of secondary complications of iron overload. In some circumstances, spleen removal may be required. Bone marrow transplantation remains the only definitive cure currently available. Individuals with thalassemia intermedia may require splenectomy, folic acid supplementation, treatment of extramedullary erythropoietic masses and leg ulcers, prevention and therapy of thromboembolic events. Prognosis for individuals with beta-thalassemia has improved substantially in the last 20 years following recent medical advances in transfusion, iron chelation and bone marrow transplantation therapy. However, cardiac disease remains the main cause of death in patients with iron overload.

PMID 20492708


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.

Abstract

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.

PMID 20731304


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. efrenmartinezquintana@yahoo.es 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

2009

Congenital heart disease in 111 225 births in Belgium: birth prevalence, treatment and survival in the 21st century

Acta Paediatr. 2009 Mar;98(3):472-7. Epub 2008 Nov 30.


Moons P, Sluysmans T, De Wolf D, Massin M, Suys B, Benatar A, Gewillig M. Source Center for Health Services and Nursing Research, Katholieke Universiteit Leuven, Leuven, Belgium. Philip.Moons@med.kuleuven.be

Abstract AIM: To investigate the birth prevalence, treatment modalities and short-term survival of children with congenital heart disease who were born in 2002. METHODS: We undertook a retrospective review of medical records of all patients who were born in 2002, and were diagnosed, treated and/or followed-up in one of the seven-paediatric cardiology programmes in Belgium. RESULTS: In 111 225 births, 921 children with congenital heart disease were detected, yielding a birth prevalence of 8.3 per 1000. The most frequently occurring conditions were ventricular septal defects (VSDs) (33%), ostium secundum atrial septal defects (18%) and pulmonary valve abnormalities (10%). Thirty-nine percent of the children either had a cardiosurgical operation or catheter intervention. In this study, 4% of the children died. The actuarial survival at 6 months and 1 year of age was 97% and 96%, respectively and remained stable after then. Compared to other heart defects, mortality was higher in univentricular physiology, pulmonary atresia with VSD, left ventricle outflow obstruction and tetralogy of Fallot. CONCLUSION: Survival of congenital heart disease is excellent and continued to improve in the early 21st century. New therapeutic options are increasingly used. This study provides baseline data for the longitudinal follow-up of this cohort.

PMID 19046347

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

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2763446

2008

Transposition of the great arteries

Orphanet J Rare Dis. 2008 Oct 13;3:27.

Martins P, Castela E. Source Serviço de Cardiologia Pediátrica, Hospital Pediátrico de Coimbra, Coimbra, Portugal. paula_mrtns@yahoo.com

Abstract

Transposition of the great arteries (TGA), also referred to as complete transposition, is a congenital cardiac malformation characterised by atrioventricular concordance and ventriculoarterial (VA) discordance. The incidence is estimated at 1 in 3,500-5,000 live births, with a male-to-female ratio 1.5 to 3.2:1. In 50% of cases, the VA discordance is an isolated finding. In 10% of cases, TGA is associated with noncardiac malformations. The association with other cardiac malformations such as ventricular septal defect (VSD) and left ventricular outflow tract obstruction is frequent and dictates timing and clinical presentation, which consists of cyanosis with or without congestive heart failure. The onset and severity depend on anatomical and functional variants that influence the degree of mixing between the two circulations. If no obstructive lesions are present and there is a large VSD, cyanosis may go undetected and only be perceived during episodes of crying or agitation. In these cases, signs of congestive heart failure prevail. The exact aetiology remains unknown. Some associated risk factors (gestational diabetes mellitus, maternal exposure to rodenticides and herbicides, maternal use of antiepileptic drugs) have been postulated. Mutations in growth differentiation factor-1 gene, the thyroid hormone receptor-associated protein-2 gene and the gene encoding the cryptic protein have been shown implicated in discordant VA connections, but they explain only a small minority of TGA cases.The diagnosis is confirmed by echocardiography, which also provides the morphological details required for future surgical management. Prenatal diagnosis by foetal echocardiography is possible and desirable, as it may improve the early neonatal management and reduce morbidity and mortality. Differential diagnosis includes other causes of central neonatal cyanosis. Palliative treatment with prostaglandin E1 and balloon atrial septostomy are usually required soon after birth. Surgical correction is performed at a later stage. Usually, the Jatene arterial switch operation is the procedure of choice. Whenever this operation is not feasible, adequate alternative surgical approach should be implemented. With the advent of newer and improved surgical techniques and post operative intensive care, the long-term survival is approximately 90% at 15 years of age. However, the exercise performance, cognitive function and quality of life may be impaired.

PMID 18851735

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2577629

http://www.ojrd.com/content/3/1/27

Heart Abnormality Cartoons

Heart Vessel Abnormality Cartoons