Presentation
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
ORPHA:2846 Synonym(s): - Prevalence: Unknown Inheritance: Not applicable Age of onset: All ages ICD-10: Q24.8 OMIM: - UMLS: C0685699 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]
Finally, a review of literature focusing on congenital absence of the pericardium, as well as a discussion of clinical presentation, imaging techniques and therapeutic options, is also presented. [ncbi.nlm.nih.gov]
Entire Body System
-
Pathologist
All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information. [books.google.com]
History ( Table 1 ) Preliminary reports of pericardial cysts date back to middle of 19th century when the pathologists encountered the initial cases on post mortem examination [ 8 ]. [interventional-cardiology.imedpub.com]
-
Rigor
By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. [books.google.com]
Respiratoric
-
Saddle Nose
nose (090.5) 754.1 Of sternocleidomastoid muscle Congenital sternomastoid torticollis Congenital wryneck Contracture of sternocleidomastoid (muscle) Sternomastoid tumor 754.2 Of spine Congenital postural: lordosis scoliosis 754.3 Congenital dislocation [theodora.com]
Gastrointestinal
-
Hypertrophic Pyloric Stenosis
pyloric stenosis Congenital or infantile: constriction of pylorus hypertrophy of pylorus spasm of pylorus stenosis of pylorus stricture of pylorus 750.6 Congenital hiatus hernia Displacement of cardia through esophageal hiatus Excludes: congenital diaphragmatic [theodora.com]
Cardiovascular
-
Pericardial Disorder
Rare pericardial disorders. In:, eds. Dynamic Echocardiography. 1st ed. St. Louis: Elsevier ; 2011. p 262 – 5. 2. [academic.oup.com]
Eyes
-
Microphakia
[…] cataract, unspecified 743.31 Capsular and subcapsular cataract 743.32 Cortical and zonular cataract 743.33 Nuclear cataract 743.34 Total and subtotal cataract, congenital 743.35 Congenital aphakia Congenital absence of lens 743.36 Anomalies of lens shape Microphakia [theodora.com]
Musculoskeletal
-
Genu Valgum
valgum [knock-knee] genu varum [bowleg] Rudimentary patella 755.65 Macrodactylia of toes 755.66 Other anomalies of toes Congenital: hallux valgus hallux varus hammer toe 755.67 Anomalies of foot, NEC Astragaloscaphoid synostosis Calcaneonavicular bar [theodora.com]
-
Flexion Contracture
contractures of lower limb joints, congenital Spade-like hand (congenital) 755 Other congenital anomalies of limbs Excludes: those deformities classifiable to 754.0-754.8 755.0 Polydactyly 755.00 Polydactyly, unspecified digits Supernumerary digits 755.01 [theodora.com]
-
Lordosis
[…] dentofacial anomalies (524.0-524.9) syphilitic saddle nose (090.5) 754.1 Of sternocleidomastoid muscle Congenital sternomastoid torticollis Congenital wryneck Contracture of sternocleidomastoid (muscle) Sternomastoid tumor 754.2 Of spine Congenital postural: lordosis [theodora.com]
Workup
A brief discussion on this rare congenital defect with its clinical presentation, diagnostic workup and management is provided at the end of the case report. [wjgnet.com]
FIGURE 2 Proposed diagnostic workup for a child presenting with symptoms suggestive of CTS. LPA, left pulmonary artery. [pediatrics.aappublications.org]
Further history and workup for deep vein thrombosis (DVT) and a hereditary hypercoagulable state failed to identify a cause for PE. The patient was discharged, but later on readmitted to the hospital with chest pain and palpitations. [heartviews.org]
Treatment
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
Enlarged LA and LA appendages due to herniation through the defect may cause persistent AF, and antiarrhythmic treatment may be necessary for such patients. [e-sciencecentral.org]
Prognosis
Prognosis [ edit ] The prognosis of ectopia cordis depends on classification according to three factors: [1] Location of the defect Cervical Thoracic Thoracoabdominal Abdominal Extent of the cardiac displacement Presence or absence of intracardiac defects [en.wikipedia.org]
Prognosis CCAM is a rare fetal lung disease with an excellent prognosis in the absence of fetal hydrops. Resection of the CCAM generally leads to full recovery. [patient.info]
McElhinney DB, Silverman N (1999) Left ventricular aneurysm inthe fetus: a diagnosis with a mixed prognosis. Cardiol Young9: 123-126. [criticalcare.imedpub.com]
Morbidity after cardiovascular surgery is much higher if the patient has cirrhosis, and the prognosis is influenced by the functional state of the liver disease. [revespcardiol.org]
Signal characteristics are those of fluid and include 4 : T1: typically low signal (occasionally can be high signal if contains proteinaceous material) T2: high signal T1 C (Gd): no enhancement Treatment and prognosis They are benign lesions. [radiopaedia.org]
Etiology
[…] most cases, the heart protrudes outside the chest through a split sternum. [1] Pathology [ edit ] Ectopia cordis results from a failure of proper maturation of midline mesoderm and ventral body wall formation during embryonic development. [2] The exact etiology [en.wikipedia.org]
Etiology of pericardial cyst6 1.Congenital 2.Inflammatory: Rheumatic pericarditis, Bacterial infection particularly tuberculosis, Echinococcosis 3.Traumatic 4.Post cardiac surgery Table 2 : Etiology of pericardial cyst6. [interventional-cardiology.imedpub.com]
Congestive cardiac failure (non-cardiac etiology). Congestive cardiac failure secondary to glomerulonephritis. PA chest film Lateral chest film Congestive cardiac failure secondary to sickle cell anemia. [bcm.edu]
Despite an extensive work-up, the etiology remained unclear. [ncbi.nlm.nih.gov]
Epidemiology
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
In general, the prognosis for ectopia cordis is poor—most cases result in death shortly after birth due to infection, hypoxemia, or cardiac failure. [4] Epidemiology [ edit ] The occurrence of ectopia cordis is 8 per million births. [2] It is typically [en.wikipedia.org]
Congenital cytomegalovirus infection: review of the epidemiology and outcome. Obstet Gynecol Surv. 2002; 57 :245–256. [ PubMed ] [ Google Scholar ] 8. Fowler KB, Stagno S, Pass RF. [ncbi.nlm.nih.gov]
Epidemiology No data are available regarding the frequency of this lesion but it is a rare condition. [patient.info]
Pathophysiology
Crossref PubMed Angelini P, Velasco JA, Flamm S, Coronary anomalies: incidence, pathophysiology, and clinical relevance, Circulation, 2002;105:2449–54. Crossref PubMed [ecrjournal.com]
Today, despite improved knowledge of pathophysiology of pericardial diseases and the availability of a wide spectrum of diagnostic tools, the diagnostic challenge remains. [jcmr-online.biomedcentral.com]
This review will firstly discuss the anatomy and pathophysiology of CTS and outline the various clinical presentations associated with the disorder. [pediatrics.aappublications.org]
Based on this case report the clinical, pathophysiological and diagnostic features of this condition are described Pulmonary and systemic venous flow patterns assessed by transesophageal Doppler echocardiography in congenital absence of the pericardium [rwjms1.umdnj.edu]
Prevention
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
[…] intervention Most authors advise leaving incidental defects untreated Symptomatic foraminal defect may require surgery because of herniation and strangulation of left atrial appendage or herniation of LA/LV Surgery can be enlargement of the defect to prevent [learningradiology.com]
Techniques to prevent arrhythmias and sudden death should be considered in some cases when large amounts of adjacent structures are removed during surgery. Acknowledgements None. [jtd.amegroups.com]
Glycoprotein-D-adjuvant vaccine to prevent genital herpes. N Engl J Med. 2002; 347 :1652–1661. [ PubMed ] [ Google Scholar ] 36. [ncbi.nlm.nih.gov]
Patients with large pericardial effusions or cardiac tamponade undergo pericardiocentesis and may require drain placement or pericardial window to prevent recurrence. [appliedradiology.com]