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Asplenia Syndrome

Splenic Agenesis Syndrome

Asplenia syndrome, also known as right atrial isomerism is a subcategory of heterotaxy. It involves multiple malformations and abnormal location of organs, characteristically including congenital cardiac lesions and the absence of a spleen.


Presentation

Asplenia syndrome (AS) is a condition that results from failure of normal rotation of thoracic and abdominal structures during embryogenesis. It is often detected soon after birth and constitutes 1% of newborns diagnosed with congenital heart disease. AS is a subtype of heterotaxy, also referred to as right atrial isomerism, and falls within a wide range of lateralization disorders that have variable abnormalities and presentations [1]. In AS, the left side of the body is essentially a copy of the right-hand side, hence the characteristic absence of the spleen, which is normally located on the left. Although hereditary occurrences have been reported, some following an X-linked pattern, most cases of AS are isolated, and the etiology is unknown.

The common signs associated with AS are congenital cardiac malformations, which are often cyanotic and are the most frequent cause of symptoms and death. They usually consist of transposition of great vessels, pulmonary stenosis (and other valvular diseases), and total anomalous pulmonary venous connection (TAPVC).

Furthermore, AS is associated with numerous defects in the chest and abdominal cavities, the most prominent and clinically relevant of these being the lack of development of a spleen. Individuals with asplenia have a weakened immune system and are more susceptible to severe life-threatening infections, particularly those mediated by encapsulated organisms [2] [3]. This risk exists throughout their entire lives. Other abnormalities reported include a midline or transverse liver, gall bladder and pancreas malformations, three lobes in both lungs, as well as an inferior vena cava that is located anterior to the aorta. AS carries a high mortality rate as over 85% of children born with AS die before the age of one year [4] [5]. It is thought that those who survive beyond childhood may have milder manifestations and complications.

Atrial Septal Defect
  • septal defect, patent ductus arteriosus, bilateral superior venae cavae, and inferior vena cava draining into the left-sided atrium.[ncbi.nlm.nih.gov]
  • The most common congenital heart defects were atrial septal defects, common atrioventricular canals and conotruncal anomalies.[ncbi.nlm.nih.gov]
  • The most common associated cardiovascular anomalies in polysplenia are noncyanotic congenital heart defects, including atrial septal defect, endocardial cushion defects, partial anomalous pulmonary venous return, and up to 50% of cases are associated[metealpaslan.com]
  • There is a secundum type of atrial septal defect and a left superior caval vein drains directly into the roof of the left-sided, morphologically right atrium. The coronary sinus is absent.[ipccc.net]
  • He also had an atrial septal defect, micropenis, small testes, clubfeet, scoliosis, block C2-4, and structural brain abnormalities on MRI.[osti.gov]
Pulmonary Valve Stenosis
  • Classically, Heterotaxy comprises of: Cardiac looping malformations – commonly Fallot’s Tetralogy, Transposition of the Great Vessels, Pulmonary Valve Stenosis, and ventricular and atrial septal defects.[chdbabies.com]
Fishing
  • We performed G-banding, silver stain, C-banding, and hybridization with the following FISH probes (Oncor): {alpha}-satellite 13/21; {beta}-satellite, coatasome 21 and 22, and the probes for chromosome 22 at 22q11 (DiGeorge region) and 22q13.3 (control[osti.gov]
Cough
  • […] unable to avoid public transport (for example, if you need to get to hospital for treatment or an appointment), wash your hands after every trip, use the antiseptic hand gel dispensers in the hospital regularly, cover your nose and mouth if you sneeze or cough[dontforgetaboutflu.co.uk]
  • Those with asplenia are also cautioned to start a full-dose course of antibiotics at the first onset of an upper or lower respiratory tract infection (for example, sore throat or cough), or at the onset of any fever.[en.wikipedia.org]
Hyperconvex Nails
  • nails that curved around tip of fingers, abnormally bowed more » elbows and knee joints, prominent abdomen with omphalocele and flat feet with hypoplastic nails.[osti.gov]
Hand Deformity
  • Herein, we report a fetus with uniparental complete trisomy 16 manifesting with asplenia syndrome, left hand deformity (only 3 deformed fingers on the left hand) and a left low-set ear.[ncbi.nlm.nih.gov]

Workup

The diagnosis of AS depends on a combination of history, physical examination and imaging findings. Features known to be typical in AS are used to guide the choice of investigations, which focus on specific systems or organs. These may include:

  • Testing for nucleic acids known as Howell-Jolly bodies, which may be present in the red blood cells as a sign of splenic pathology.
  • Electrocardiogram (ECG): This is useful in the detection of arrhythmias and other abnormalities in cardiac function
  • Echocardiogram: This is a non-invasive imaging technique used to visualize and confirm structural defects of the heart [6].
  • Prenatal ultrasound: It is possible to diagnose AS before birth, as ultrasound can be used to identify cardiac abnormalities and asplenia [7].
  • Computerized tomography (CT) scan and CT angiography: These accurately detail the nature of malformations, as this information is needed for patient care and treatment [8].
  • Magnetic resonance imaging (MRI) scan: MRI is also useful in defining the relationship between soft tissue structures.
Atelectasis
  • Tracheal bronchus: a cause of prolonged atelectasis in intubated children. Chest. 1998 ; 113 : 537–540. Crossref Medline Google Scholar 3 Deanfield JE, Leanage R, Stroobant J, Chrispin AR, Taylor JF, Macartney FJ.[circ.ahajournals.org]
Howell-Jolly Bodies
  • Both presented with the severe cardiovascular anomalies found in this syndrome and had Howell-Jolly bodies in peripheral blood smears.[ncbi.nlm.nih.gov]
  • Howell-Jolly bodies were found in their peripheral blood smear. The barium examinations of gastrointestinal tract showed intestinal obstruction and malrotation. All of them died in the first month of life. One of them received an autopsy.[ncbi.nlm.nih.gov]
  • Abstract Asplenia was suspected in one patient with combined immunodeficiency syndrome and 5 with congenital cardiac anomalies who had Howell-Jolly bodies on peripheral blood smears. 99mTc-sulfur colloid scans were equivocal for absence of the spleen.[ncbi.nlm.nih.gov]
  • These may include: Testing for nucleic acids known as Howell-Jolly bodies, which may be present in the red blood cells as a sign of splenic pathology.[symptoma.com]
  • Relevant laboratory investigations including peripheral blood smear revealed Howell-Jolly bodies. Parathormone and electrolytes were normal. Quantitative measurements of major immunoglobulin classes and T lymphocyte subpopulations were normal.[endocrine-abstracts.org]

Treatment

  • This paper draws attention to the prophylactic treatment of gastric malfixation in the AS through the presentation of two cases in which gastropexy was performed.[ncbi.nlm.nih.gov]
  • This report discusses the treatment of such conditions. Methods Seventy-five patients with AS underwent initial palliation in our institution between 1997 and 2013. Of these, 10 patients had hiatal hernia.[ncbi.nlm.nih.gov]
  • This era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations.[books.google.com]
  • Computerized tomography (CT) scan and CT angiography: These accurately detail the nature of malformations, as this information is needed for patient care and treatment.[symptoma.com]
  • Every topic and chapter has been revised and updated to reflect the latest medical and surgical treatments for all congenital and acquired heart diseases. New surgical approaches, including hybrid procedures, have been updated.[books.google.com]

Prognosis

  • We have stressed the importance of early recognition of mendelian disorders with associated cardiac malformations to provide meaningful counseling regarding prognosis, medical management, and risk of recurrence.[ncbi.nlm.nih.gov]
  • Coverage of congenital heart abnormalities includes how the conditions look on scans, which scanning views and modalities to use, differential diagnosis, prognosis, and treatment.[books.google.com]
  • A review of cardiac and non-cardiac malforma tions in 60 cases with special reference to diagnosis and prognosis . Br Heart J 1975 ; 37 : 840 – 852 . 11. Sapire , DW , Ho , SY , Anderson , RH , Rigby , ML .[cambridge.org]
  • Our study indicated that the cardiac anomalies in polysplenia were less severe than they were in asplenia and therefore the prognosis in the former syndrome is likely to be more favourable.[ncbi.nlm.nih.gov]

Etiology

  • A brief review of the various hereditary patterns of visceral situs abnormalities suggests that, at least in some cases, the asplenia and polysplenia syndromes are etiologically and pathogenetically interrelated.[ncbi.nlm.nih.gov]
  • Although hereditary occurrences have been reported, some following an X-linked pattern, most cases of AS are isolated, and the etiology is unknown.[symptoma.com]
  • Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases.[books.google.com]
  • Syndrome of spleen agenesis, defects of the heart and vessels and situs inversus; report of a case suggesting heredity as an etiological factor.[ncbi.nlm.nih.gov]
  • Etiology Acquired asplenia Anatomic asplenia : due to splenectomy, which may be indicated in Functional asplenia Autosplenectomy: sickle cell anemia Splenic infarction ( splenic artery thrombosis ) Tumor infiltration Congenital asplenia (very rare) References[amboss.com]

Epidemiology

  • Cheng, Department of Epidemiology and Preventive Medicine, Monash University, Commercial Road, Melbourne, VIC 3004, Australia. (Email: allen.cheng@monash.edu ) References Hide All 1. Di Sabatino, A, Carsetti, R, Corazza, GR.[cambridge.org]
  • To review the epidemiology and clinical course of invasive S. pneumoniae infections in children with asplenia before the release of the conjugate pneumococcal vaccine.[journals.lww.com]
  • Epidemiology The incidence of the genetic disorder is 1 in 32,000 births [ 5 ]. However, higher incidences have been found in communities in which consanguineous marriages are common [ 6 ].[patient.info]
  • Clinical and Epidemiological Study 40.1 (2012): 35-39 Yapp, Alvin. "Infection Outcomes in Splenectomized Patients." International Society for Infectious Diseases 13 (2009): 696-700.[nuemblog.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology: High Risk Organisms IV.[fpnotebook.com]
  • Pathophysiology The spleen is a major component of the reticuloendothelial system; it is important both for antibody synthesis and for clearance of opsonized organisms by phagocytosis.[unboundmedicine.com]
  • The pathophysiology of asplenia also varies depending on the underlying etiology and comorbid conditions.[ncbi.nlm.nih.gov]

Prevention

  • Severe reduction of pulmonary blood flow secondary to pulmonary stenosis or atresia in such patients may prevent the usual radiographic appearance of pulmonary oedema.[ncbi.nlm.nih.gov]
  • Management of this abnormality include surgical correction and prevention of infection with vaccination and antibiotic prophylaxis due to asplenia.[jmums.mazums.ac.ir]
  • Doctors should encourage routine medical examination for their patients which could help identify this anomaly, thereby preventing wrong diagnosis and possibly death due to delay in management. Key words: Dextrocardia; heterotaxy; asplenia syndrome.[scopemed.org]
  • Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. ‏ الصفحة 332 - Crane JP, LeFevre ML, Winborn RC, et al.[books.google.com]
  • This article was last reviewed on Thursday, January 17, 2019 MORE A-Z Diabetes Prevention Programme With the right lifestyle changes, you may be able to prevent diabetes and even stop the progression of the disease.[healthhub.sg]

References

Article

  1. Ferdman B, States L, Gaynor JW, Hedrick HL, Rychik J. Abnormalities of intestinal rotation in patients with congenital heart disease and the heterotaxy syndrome. Congenit Heart Dis. 2007;2(1):12–18.
  2. Dyke MP, Martin RP, Berry PJ. Septicaemia and adrenal haemorrhage in congenital asplenia. Arch Dis Child. 1991;66(5):636–637.
  3. Murdoch IA, Anjos RD, Mitchell A. Fatal pneumococcal septicaemia associated with asplenia and isomerism of the right atrial appendages. Br Heart J. 1991;65(2):102–103.
  4. Matsuura K, Akizuki S, Nakamura N, Ishibashi-Ueda H, Moriyama M. A case of right isomerism showing long survival without surgery. South Med J. 2007;100(2):218–221.
  5. Bartz PJ, Driscoll DJ, Dearani JA, et al. Early and late results of the modified fontan operation for heterotaxy syndrome 30 years of experience in 142 patients. J Am Coll Cardiol. 2006;48(11):2301–2305.
  6. Momma K, Takao A, Shibata T. Characteristics and natural history of abnormal atrial rhythms in left isomerism. Am J Cardiol. 1990;65(3):231–236.
  7. Agarwal H, Mittal SK, Kulkarni CD, Verma AK, Srivastava SK. Right isomerism with complex cardiac anomalies presenting with dysphagia - A case report. J Radiol Case Rep. 2011;5(4):1-9.
  8. Wolla CD, Hlavacek AM, Schoepf UJ, Bucher AM, Chowdhury S. Cardiovascular manifestations of heterotaxy and related situs abnormalities assessed with CT angiography. J Cardiovasc Comput Tomogr. 2013;7(6):408-416.

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Last updated: 2019-06-28 11:49