Presentation
We present an unusual case of a Down's syndrome patient whose septal defect first presented at 20 years of age. [ncbi.nlm.nih.gov]
Entire Body System
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Dysostosis
We think that this patient represents a new acrocraniofacial dysostosis syndrome. Copyright 2001 Wiley-Liss, Inc. [ncbi.nlm.nih.gov]
Gastrointestinal
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Failure to Thrive
Infants may present with congestive heart failure, tachypnea, excessive sweating, failure to thrive, extremis with acidosis, severe hypoplasia of left-sided structures with ductal-dependent systemic circulation, and severe cyanosis in right-sided structures [wikidoc.org]
The main symptoms are feeding problems, failure to thrive and frequent pulmonary infections. The symptoms are similar to those caused by a large VSD. [dhzb.de]
AV septal defects can cause symptoms such as these: Fast breathing Shortness of breath or working hard to breathe when feeding Arrhythmia Sweating, particularly with feeding in infants Failure to thrive Trouble exercising Fatigue Palpitations Most children [seattlechildrens.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]
Ears
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Large Ears
We report on a patient with a unique constellation of anomalies comprising trigonomicrocephaly, asymmetric severe micrognathia, large ears, atrioventricular septal defect, vertebral anomalies, bilateral cutaneous syndactyly of fingers and toes, unilateral [ncbi.nlm.nih.gov]
Urogenital
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Cryptorchidism
[…] report on a patient with a unique constellation of anomalies comprising trigonomicrocephaly, asymmetric severe micrognathia, large ears, atrioventricular septal defect, vertebral anomalies, bilateral cutaneous syndactyly of fingers and toes, unilateral cryptorchidism [ncbi.nlm.nih.gov]
Workup
PR Interval
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Prolonged PR Interval
PR interval - superior frontal QRS axis - partial right bundle branch block - superior p wave axis (in associated left atrial isomerism) • Chest radiograph - cardiomegaly - prominent pulmonary conus - increased pulmonary vascularity - left aortic arch [ncbi.nlm.nih.gov]
QT, RR, ST Intervals
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ST Elevation
She exhibited chest pain with ST elevation, and coronary computed tomography showed that the LMCA was compressed between the dilated pulmonary artery and aorta. After her hyperthyroidism was treated, her chest pain resolved. [ncbi.nlm.nih.gov]
Other Pathologies
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Myocardial Fibrosis
Myocardial fibrosis, necrosis, and a case of dilated cardiomyopathy have, so far, been described. We report the first case of atrioventricular septal defect in a patient with Shwachman-Diamond syndrome. [ncbi.nlm.nih.gov]
Treatment
We discuss her successful surgical treatment in terms of the available medical literature. [ncbi.nlm.nih.gov]
Treatment of AVSD In terms of treatment, surgery is the only option left as far as treatment of complete and partial Atrioventricular Septal Defect (AVSD). In this procedure the hole in the septum is closed with one or two patches. [indiacardiacsurgerysite.com]
Prognosis
Mortality/Morbidity Prognosis The prognosis following biventricular repair is generally good. The operative mortality rate is generally less than 3%. Most patients remain asymptomatic with a normal functional status. [emedicine.medscape.com]
Postnatal/Prognosis? Management of AVSD generally involves surgery. Outcomes vary widely based upon the presence of other abnormalities or genetic syndromes. [prenatalpediatrics.org]
Single-stage repair of CAVSD and CoA appears to offer a good prognosis provided that valve morphology is amenable to repair. [ncbi.nlm.nih.gov]
Decreasing operative mortality has significantly altered the prognosis of these patients with and without Down’s syndrome. [heart.bmj.com]
Etiology
[…] complications/etiology; reoperation; time factors; treatment outcome [ncbi.nlm.nih.gov]
Types atrial septal defects (ASDs) ventricular septal defects Etiology autosomal dominant AVSD Locus AVSD1 (1p31-p21) Locus AVSD2 (3p25): CRELD1 coding for a cell adhesion molecule previously known as "cirrin" ( 12632326 ) Locus GJA2 (6q21-q23.2): GJA2 [humpath.com]
Epidemiology
KEYWORDS: Abnormalities, multiple/genetics; Down syndrome/complications; cardiomyopathy, hypertrophic/complications/congenital; fatal outcome; heart defects, congenital/diagnosis/epidemiology; heart septal defects, ventricular/embryology/physiopathology [ncbi.nlm.nih.gov]
Epidemiology: AVSD is relatively uncommon, occurring in about 4%-5% of all forms of congenital heart disease. [clinicaladvisor.com]
The Epidemiology of Congenital Heart Disease, The Baltimore-Washington Infant Heart Study (1981-1989). Perspectives in Pediatric Cardiology. Mount Kisco, NY: Futura Publishing Co; 1993. Vol 4: Freeman SB, Taft LF, Dooley KJ, et al. [emedicine.medscape.com]
Pathophysiology
The pathophysiology of atrioventricular septal defect is variable, and ranges from mild left to right shunting similar to a simple atrial septal defect to complex single-ventricle heart disease. [ncbi.nlm.nih.gov]
Atrioventricular Septal Defect Pathophysiology: In pathophysiological terms, atrioventricular septal defect acts as a ostium secundum interatrial septal defect, which is associated with a mitral valve defect that is accentuating pulmonary stasis, increases [doctortipster.com]
M.D. [1] Overview Pathophysiology There are many underlying mechanisms resulting in atrioventricular septal defect depends largely on the nature of interaction of blood flow between the right and left sides of the heart. [wikidoc.org]
The aim of this chapter is to present a model of how noninvasive multimodal imaging can improve the understanding of pathophysiology and increase the accuracy of the diagnosis of the specific congenital heart disease. [accessmedicine.mhmedical.com]
Pathophysiology If there is a defect in the septum, it is possible for blood to travel from the left side of the heart to the right side of the heart, or the other way around. [savetipedijatra.com]
Prevention
La Ciotat Cedex, France) was placed beneath the atrioventricular valve to prevent rupture of the mitral aneurysm and support the anterior mitral leaflet by creating a new annulus. [ncbi.nlm.nih.gov]
This may involve: A yearly exam with a heart specialist Regular tests of heart function Changes to treatment plan Prevention There is no way to prevent AVSD since the cause is unknown. References Atrioventricular (AV) canal defect. [lahey.org]
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]