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

  A routine cardiopulmonary bypass, consisting of ligations of the patent ductus arteriosus and right superior vena cava, was followed by direct and patch closure of atrial and ventricular septal defects. [ncbi.nlm.nih.gov]

  The yellow dots mark the atrial septal border of the atrioventricular septal defect and the red dots are along the crest of the ventricular septum. [ipccc.net]

• 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]

• Collapse

  It is conjectural whether the presence of bilateral right sided, or bilateral left sided lungs alter the conventional propensity of aspiration to the right bronchus, or predilection of collapse in the left bronchus. [annalspc.com]

• Respiratory Distress

  Página 60 - Causes of mortality in patients with the adult respiratory distress syndrome. Am Rev Respir Dis 1985; 132:485-89 8 Seidenfeld JJ, Pohl DF, Bell RC, Harris GD, Johanson WG. ‎ [books.google.es]

  Case Presentation: We report the case of dextrocardia with heterotaxy syndrome who presented with respiratory distress soon after birth. A chest X-ray showed dextrocardia, cardiomegaly with pulmonary congestion. [scopemed.org]

  Clinical presentations of the 26 episodes included fever (22), shock (7), petechiae or purpura (7), disseminated intravascular coagulation (5) and respiratory distress (5). [journals.lww.com]

  Presentation [ 1 ] History Neonatal respiratory distress may occur [ 7 ]. Upper respiratory symptoms may include: chronic rhinorrhoea from early childhood, reduced sense of smell and chronic rhinitis. Recurrent otitis media may occur. [patient.info]

  Infants with Ivemark syndrome usually present during the neonatal period with cyanosis and respiratory distress, resulting from complex cardiac anomalies. [emedicine.medscape.com]

• 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]

• Dyspnea

  He developed general fatigue, dyspnea and a high-grade fever on the day before hospitalization. He was not on any medications and had never undergone any surgical procedures. [omicsonline.org]

• Cyanosis

  All of the three neonates were noted to have cyanosis, heart murmur and abdominal distention soon after birth. Absence of spleen, heterotaxia and complex cardiac malformations were detected by sonography. [ncbi.nlm.nih.gov]

  Our case is 19 years old gril with central and peripheral cyanosis and clubbing from several years ago who had several recurrent pulmonary infection from childhood with history of PA banding surgery. [jmums.mazums.ac.ir]

  Typical signs and symptoms include cyanosis (blueness), shortness of breath, loss of energy and cardiac failure. [contact.org.uk]

  Presenting signs and symptoms of the congenital heart defect may include cyanosis, breathlessness, lethargy and poor feeding. [en.wikipedia.org]

  These various heart defects may cause a moderate or significant bluish discoloration to the skin of an affected infant due to a lack of oxygen in the blood (cyanosis). [rarediseases.org]

• Systolic Murmur

  Case 3 S.T. 17 19 F Pneumonia at 5 and 17 months old Meningitis and pyelonephritis at 8 months old Failure to thrive, crackles in lung auscultation, grade 2/6 systolic murmur at the mesocardiac area VSD Howell-Jolly bodies were seen ( Fig. 1 ) Spleen [ncbi.nlm.nih.gov]

• Tachycardia

  Asplenia syndrome is commonly associated with complex structural cardiac malformations, and junctional tachycardia (JT), which may compromise hemodynamic status, has been reported in association with asplenia syndrome.(1) We report successful radiofrequency [ncbi.nlm.nih.gov]

  Supraventricular tachycardia is attributed to reentry between paired atrioventricular nodes. Left Atrial Isomerism In left isomerism there is often polysplenia. [metealpaslan.com]

• Cardiomegaly

  A chest X-ray showed dextrocardia, cardiomegaly with pulmonary congestion. [scopemed.org]

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.

• Howell-Jolly Bodies

  bodies Target cells Neutrophilia Decreased production of immunoglobulins ( IgG, IgM ) Reactive thrombocytosis : usually for the first weeks to months after splenectomy The lack of Howell-Jolly bodies in asplenic patients is suggestive of the presence [amboss.com]

  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]

• Leukocytosis

  […] pulp: Network of reticular fibers filled with large amounts of blood Hematocrit -Percentage of RBC per volume of blood -Abnormal low readings = hemorrhage or internal bleeding Bacteremia -Presence of bacteria in body -Sepsis = bacteria in bloodstream Leukocytosis [quizlet.com]

  The reasons for hospitalization were cyanosis and altered general health (weight loss and anorexia) with leukocytosis (white blood cell count, 21.500/mm3). On physical examination, a 3rd degree cardiac murmur was identified. [scielo.conicyt.cl]

Mortality 70% without treatment An asplenic patient with fever requires immediate empiric antibiotic treatment. [amboss.com]

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 era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations. [books.google.com]

Febrile episodes require blood cultures and empiric treatment with broad spectrum antibiotics such as amoxicillin-clavulanate. OVERVIEW The spleen is the largest lymphatic organ in the body. [immunodeficiencysearch.com]

Retrieved 18 June 2018. linked from https://www.lls.org/leukemia/chronic-lymphocytic-leukemia/treatment/splenectomy ^ Lowenbraun, Stanley (January 1971). [en.wikipedia.org]

Asplenic sepsis and overwhelming postsplenectomy sepsis have a very poor prognosis. Therefore, preventive measures including immunization against encapsulated bacteria and early empiric antibiotic treatment for fever are vital. [amboss.com]

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]

The poor prognosis is due to the involvement of multiple organs, especially the heart. With proper treatment and management of Asplenia, the prognosis is relatively better with improved life expectancy. [epainassist.com]

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]

[…] and early mortality ↑ risk of sepsis due to lack of spleen • PSP: Infant or adult presentation with better prognosis due to lesser incidence of cardiac disease (Right) Axial CECT in the same patient demonstrates malrotation of the bowel, with the small [radiologykey.com]

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]

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]

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]

Cheng, Department of Epidemiology and Preventive Medicine, Monash University, Commercial Road, Melbourne, VIC 3004, Australia. (Email: [email protected] ) 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]

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]

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]

The epidemiology of asplenia differs depending on its etiology. [ncbi.nlm.nih.gov]

Pathophysiology: High Risk Organisms IV. [fpnotebook.com]

The pathophysiology of asplenia also varies depending on the underlying etiology and comorbid conditions. [ncbi.nlm.nih.gov]

Therefore, preventive measures including immunization against encapsulated bacteria and early empiric antibiotic treatment for fever are vital. [amboss.com]

Postsplenectomy infection – strategies for prevention in general practice. Australian Family Physician 2010 ; 39 : 383 – 386. 3. Spelman, D, et al. Guidelines for the prevention of sepsis in asplenic and hyposplenic patients. [cambridge.org]

"Guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen. Working Party of the British Committee for Standards in Haematology Clinical Haematology Task Force". [en.wikipedia.org]

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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.
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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.