Edit concept Question Editor Create issue ticket

Endocardial Cushion Defect

Atrioventricular Septal Defect

An endocardial cushion defect, also known as the atrioventricular septal defect, encompasses several congenital heart disease forms of abnormal atrioventricular septation and formation of a single atrioventricular valve. Cyanosis is principally seen in milder forms, whereas congestive heart failure and even death may develop in more severe cases, especially if the condition is not recognized early on. Clinical workup and echocardiography, either prenatal or postnatal, are used to make the diagnosis.


Presentation

Signs and symptoms of an endocardial cushion defect arise from a variable degree of blood shunting due to the absence of separate atrioventricular valves [1] [2]. Instead, a common atrioventricular valve exists and is accompanied by a large atrial septal defect (ASD) and a ventricular septal defect (VSD), designated as complete endocardial cushion defect [1]. On the other hand, partial (two atrioventricular orifices and the absence of an ASD) and intermediary (a markedly smaller VSD) forms have been described as well [3] [4]. Regardless of the anatomical severity, initial left-to-right shunting due to increased pressures of the left heart will cause pulmonary hypertension and induce a simultaneous right-to-left shunting [1] [3] [5]. The bidirectional blood shunting in the heart is known as the Eisenmenger's syndrome, which leads to congestive heart failure in the majority of cases with a complete endocardial cushion defect [1]. Tachycardia, tachypnea, poor peripheral circulation, feeding difficulties and excessive sweating are encountered in the first few months of life, and in the absence of an early diagnosis, 50% of infants will die during the first year of life [1] [3] [5]. In most severe cases, in whom marked regurgitation of the common AV valve and the presence of other anomalies further impede blood flow through the aorta, heart failure can develop as early as one week after delivery [5]. Central and less commonly peripheral cyanosis are a frequent finding as well [1] [5].

Down Syndrome
  • Down syndrome is often associated with AVCD.[en.wikipedia.org]
  • Down syndrome with endocardial cushion defect is a challenging diagnosis for parents as well as members of the health care team.[ncbi.nlm.nih.gov]
  • Definition One-third have Down’s syndrome.[heartpearls.com]
Congestive Heart Failure
  • Cyanosis is principally seen in milder forms, whereas congestive heart failure and even death may develop in more severe cases, especially if the condition is not recognized early on.[symptoma.com]
  • The clinical presentation of severe, intractable congestive heart failure in these neonatal patients would suggest the diagnosis of typical hypoplastic left heart syndrome.[ncbi.nlm.nih.gov]
  • A small number of infants with a complete atrioventricular septal defect will not develop congestive heart failure.[cincinnatichildrens.org]
  • Complete AVSD: Half of untreated children with AVSD typically die in the first year of life because of congestive heart failure.[clinicaladvisor.com]
Failure to Thrive
  • Surgical repair For heart failure, medical therapy (eg, diuretics, digoxin, ACE inhibitors) before surgery Complete atrioventricular septal defect should be repaired by age 2 to 4 mo because most infants have heart failure and failure to thrive.[merckmanuals.com]
  • Typical symptoms include tachypnea, increased work of breathing, and failure to thrive. These symptoms may be seen in other forms of congenital heart disease. There are no symptoms specific to AVSD.[clinicaladvisor.com]
  • It becomes symptomatic in infancy due to congestive heart failure and failure to thrive. Diagnosis of CAVC might be suspected from electrocardiographic and chest X-ray findings. Echocardiography confirms it and gives anatomical details.[doi.org]
  • .• Failure to thrive.• Age at operation of 40. • In a series of 334 patients from Mayo Clinic, 20- and 40-year survivals after repair of partial AVSD were 87% and 76%, respectively.• Closure of the mitral cleft and age 41. • A low frequency of postoperative[slideshare.net]
Heart Disease
  • International The frequency rate is about 3% of children who have congenital heart disease.[emedicine.com]
  • An endocardial cushion defect, also known as the atrioventricular septal defect, encompasses several congenital heart disease forms of abnormal atrioventricular septation and formation of a single atrioventricular valve.[symptoma.com]
  • The first symptoms of previously undiagnosed congenital heart disease may become apparent during pregnancy.[ncbi.nlm.nih.gov]
  • Congenital heart disease in the adult and pediatric patient. In: Zipes DP, Libby P, Bonow RO, Mann DL, Tomaselli GF, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine . 11th ed.[mountsinai.org]
Cyanosis
  • Cyanosis is principally seen in milder forms, whereas congestive heart failure and even death may develop in more severe cases, especially if the condition is not recognized early on.[symptoma.com]
  • This causes cyanosis, or bluish skin. There are two types of ECD: Complete ECD. This condition involves an atrial septal defect (ASD) and a ventricular septal defect (VSD).[nlm.nih.gov]
  • Even though one expects severe cyanosis in common AV canal, the intensity of which is primarily determined the net blood flow to lungs which is dictated by the pulmonary vascular resistance or the RVOT obstruction.[drsvenkatesan.com]
Heart Murmur
  • Identification of a heart murmur (most likely pansystolic, but also ejection systolic or apical mid-diastolic) during cardiac auscultation can raise sufficient clinical suspicion toward heart disease in infants and neonates, especially if accompanying[symptoma.com]
  • There is usually a heart murmur present, but it is softer than that which occurs with a complete atrioventricular septal defect.[cincinnatichildrens.org]
  • Children with AVCD usually have a heart murmur, which a healthcare provider can hear with a stethoscope. A heart murmur is an extra sound made between heartbeats. The murmur is caused by the abnormal flow of blood through the heart.[summitmedicalgroup.com]
  • Children with AVSD usually have a heart murmur, which a healthcare provider can hear with a stethoscope. A heart murmur is an extra sound made between heartbeats. These murmurs are caused by the blood flowing abnormally through the heart.[drpachadharma.com]
Systolic Murmur
  • A cleft in the left AV valve results in a blowing apical systolic murmur of mitral regurgitation.[merckmanuals.com]
  • A systolic murmur of a ventricular septal defect can be heard as well as the systolic murmur of mitral insufficiency. Pulmonary hypertension is associated with a loud pulmonic component of the second heart sound.[chdbabies.com]
  • murmur at the apex of her heart.[ncbi.nlm.nih.gov]
Gallop Rhythm
  • If a significant regurgitation of the common atrioventricular valve is present, a systolic cardiac murmur and gallop rhythm are frequently heard.[doi.org]
Hearing Impairment
  • impairment, and congenital heart disease with endocardial cushion defect.[ncbi.nlm.nih.gov]
Cesarean Section
  • Cesarean sections and other operations are associated with extremely high maternal mortality during pregnancy. The maternal mortality rate of pregnancy with ES is reported to be as high as 50% to 65% with Cesarean section [ 6 ].[ncbi.nlm.nih.gov]

Workup

Due to the life-threatening risk in the very first weeks of life, the diagnosis of an endocardial cushion defect must be made promptly. Identification of a heart murmur (most likely pansystolic, but also ejection systolic or apical mid-diastolic) during cardiac auscultation can raise sufficient clinical suspicion toward heart disease in infants and neonates, especially if accompanying symptoms are present [3] [5]. For this reason, the role of a proper physical examination is vital [3] [5]. Plain radiography often reveals cardiomegaly and deviation of the cardiac axis, but electrocardiography (ECG) and more importantly, echocardiography should be immediately performed, with the latter being the gold standard in confirming the presence of a congenital heart disease (CHD), both prenatally and postnatally [2] [3] [5]. Direct imaging of the heart through ultrasonography will show a common atrioventricular valve and the absence of an atrioventricular septum, defects of the ventricular septal and atrial flow, as well as bi-directional blood flow on doppler ultrasonography [2] [3] [5]. Magnetic resonance imaging (MRI) of the heart has also proven to be a useful method for assessing the cardiac anomalies seen in endocardial cushion defect [5]. Isolated studies have confirmed a very potent relationship of this CHD with Down syndrome, suggesting that a meticulous prenatal diagnostic workup is necessary for ensuring an early diagnosis, which will allow early therapy and reduction in mortality rates [3] [5].

Cardiomegaly on Chest X-ray
  • Diagnosis criteria Diagnosis of CAVC might be clinically suspected in patients presenting in the first few months of life with congestive heart failure, cardiomegaly on chest X-ray and left axis deviation, bi-atrial enlargement and bi-ventricular pressure[doi.org]
Left Axis Deviation
  • Abstract Three groups of patients are identified in the series of secumdum atrial septal defect with left axis deviation in an analysis of 910 patients of secundum atrial septal defect with or without other accompanying anomalies: 1) 12 patients with[ncbi.nlm.nih.gov]
  • axis deviation Biventricular hypertrophy Chest X-ray Cardiomegaly with increased pulmonary vascular markings Treatment Close the atrial and/or ventricular septal defects with patch material and repair the atrioventricular valves.[echocardiology.org]
  • Clinical features- See hemodynamics Radiography- See hemodynamics ECG- Left axis deviation Counterclockwise depolarization- as initial left to right septal depolarization does not occur Prolonged PR interval in about half cases- due to prolonged atrial[heartpearls.com]
  • Electrocardiography: Left axis deviation with a counterclockwise vector loop is common ( Figure 4 ). Prolongation of the PR and QRS intervals is also common. Figure 4.[clinicaladvisor.com]
Biventricular Hypertrophy
  • hypertrophy Chest X-ray Cardiomegaly with increased pulmonary vascular markings Treatment Close the atrial and/or ventricular septal defects with patch material and repair the atrioventricular valves.[echocardiology.org]

Treatment

  • Other tests that may be done include: Cardiac catheterization Coronary angiography (for patients over 35 years old) ECG Heart MRI Transesophageal echocardiography (TEE) Treatment ASD may not need treatment if there are few or no symptoms, or if the defect[mountsinai.org]
  • This type of damage is irreversible which is why immediate treatment is recommended after diagnosis. Down syndrome is often associated with AVCD.[en.wikipedia.org]
  • Because of recent surgical advances in the treatment of single ventricle and double outlet right ventricle complexes, it has become increasingly important to document the status of the atrioventricular valves in these patients.[ncbi.nlm.nih.gov]
  • Treatment for this condition involves the surgical closure of the holes present between heart chambers and may require more than one surgical procedure to complete.[wisegeek.com]
  • Treatment: Surgery is needed to close the holes between the heart chambers and to separate the common valve into distinct tricuspid and mitral valves.[madisonadoption.org]

Prognosis

  • Prognosis: The prognosis for a child with ECD depends on the severity of the ECD, the child’s overall health, and whether lung disease has already developed. Many children with early intervention live normal, active lives after the ECD is corrected.[madisonadoption.org]
  • Due to the grave prognosis associated with this condition and the severity of clinical signs, the kitten was euthanized. A necropsy followed and revealed a complete endocardial cushion defect. Subject Cats -- Abnormalities -- Case studies[ecommons.cornell.edu]
  • […] defect normal situs seen Left Ventricular Outflow Tract view ( LVOT ) 3 Vessel view the following are spectral doppler flow across the 4 valves mitral valve aortic valve pulmonary valve tricuspid valve the last is a reconstructed image of the aortic arch prognosis[kriznanultrasoundimages.com]
  • Prognosis/Outlook for Endocardial Cushion Defect The prognosis or outlook for endocardial cushion defect is excellent if it is detected immediately after birth and the surgery is done within the first year of birth.[epainassist.com]

Etiology

  • ETIOLOGY OF ATRIOVENTRICULAR SEPTAL DEFECTS (AVSD) In the primitive heart the common atrium and ventricle communicate via the atrioventricular (AV) canal.[fetalultrasound.com]
  • Ongoing controversies regarding etiology, diagnosis, treatment There is still controversy regarding timing of surgery for complete AVSD and even more so for transitional and partial AVSDs.[clinicaladvisor.com]
  • View Article PubMed Google Scholar Loffredo CA, Hirata J, Wilson PD, Ferencz C, Lurie IW: Atrioventricular septal defects: possible etiologic differences between complete and partial defects.[doi.org]
  • Atrioventricular septal defects: possible etiologic differences between complete and partial defects. Teratology. 2001; 63 :87–93. doi: 10.1002/1096-9926(200102)63:2 3.0.CO;2-5. [ PubMed ] [ CrossRef ] [ Google Scholar ] Rose V, Izukawa T, Moes CA.[ncbi.nlm.nih.gov]
  • Fibroelastic deficiency, Barlow’s disease, D) Functional etiologies Myocardial ischemia/infarction, ASD, DCM, HOCM E) Iatrogenic etiologies Medication (Cabergoline/Pergolide/Bromocriptine/Fenfluramine/Dexfenfluramine/etc.)[jpccs.jp]

Epidemiology

  • This improvement is a poor prognostic indicator because it heralds the development of right-to-left shunting and irreversible pulmonary hypertension (ie, Eisenmenger syndrome ). [2] Epidemiology Frequency United States The frequency rate is about 3% of[emedicine.com]
  • Epidemiology The frequency rate is about 3% of children who have congenital heart disease. Sixty to Seventy percent of these defects are of the complete form. More than half of those affected with the complete form have Down Syndrome.[chdbabies.com]
  • Epidemiology: AVSD is relatively uncommon, occurring in about 4%-5% of all forms of congenital heart disease.[clinicaladvisor.com]
Sex distribution
Age distribution

Pathophysiology

  • Endocardial cushion defects: embryology, anatomy and pathophysiology. Adv Cardiol. 2004. 41:118-26. [Medline]. Marelli AJ, Ionescu-Ittu R, Mackie AS, Guo L, Dendukuri N, Kaouache M.[emedicine.com]
  • Endocardial cushion defects: embryology, anatomy and pathophysiology. Adv Cardiol . 2004. 41:118-26. [Medline] . Marelli AJ, Ionescu-Ittu R, Mackie AS, Guo L, Dendukuri N, Kaouache M.[emedicine.medscape.com]
  • Pathophysiology Predominant left-to-right shunting of blood through the heart occurs in these patients. In patients with partial defects, this occurs through the ostium primum atrial septal defect.[chdbabies.com]
  • Related chapters cover atherogenesis, presenting new insights into the pathophysiology of the vulnerable plaque, the role of progenitor cells in vascular injury, inflammation and atherogenesis, and the genomics of vascular remodeling.[link.springer.com]

Prevention

  • Prevention There is no known way to prevent the defect. Some of the complications can be prevented with early detection. References Liegeois JR, Rigby ML. Atrial septal defect (interatrial communication).[mountsinai.org]
  • prevent the blood from the two sides of the heart from mixing with each other.[en.wikipedia.org]
  • Ideally, surgery should be conducted prior to the child’s first birthday to prevent the development of complications.[wisegeek.com]
  • Reference Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Anderson P, Mason CA, Collins JS, Kirby RS, & Correa A, for the National Birth Defects Prevention Network.[cdc.gov]

References

Article

  1. Chen X, Xiao B, Yang W, Chen Y, Zhang W, Zhu H. Complete endocardial cushion defects in pregnancy: a case report. J Med Case Rep. 2014;8:91.
  2. Espinola-Zavaleta N, Muñoz-Castellanos L, Kuri-Nivón M, Keirns C. Understanding atrioventricular septal defect: Anatomoechocardiographic correlation. Cardiovasc Ultrasound. 2008;6:33.
  3. Calabrò R, Limongelli G. Complete atrioventricular canal. Orphanet J Rare Dis. 2006;1:8.
  4. Mureşan D, Mărginean C, Zaharie G, Stamatian F, Rotar IC. Complete atrioventricular septal defect in the era of prenatal diagnosis. Med Ultrason. 2016;18(4):500-507.
  5. Craig B. Atrioventricular septal defect: from fetus to adult. Heart. 2006;92(12):1879-1885.

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!
Last updated: 2019-06-28 10:04