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Encyclopedia > Persistent truncus arteriosus
Persistent Truncus Arteriosus
Classification & external resources
ICD-10 Q20.0
ICD-9 745.0
OMIM 217095
DiseasesDB 32081
MedlinePlus 001111
eMedicine ped/2316 
MeSH C14.240.400.929

Persistent truncus arteriosus (or Truncus arteriosus) is a rare form of congenital heart disease that presents at birth. It derives its name from the embryological structure also known as the truncus arteriosus. In the condition, the vessel never properly divides into the pulmonary artery and aorta. The International Statistical Classification of Diseases and Related Health Problems (commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... The International Statistical Classification of Diseases and Related Health Problems (commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... MedlinePlus (medlineplus. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... Cross-section of a healthy heart. ... Embryology is the branch of developmental biology that studies embryos and their development. ... For the medical condition with the same name, see Truncus arteriosus. ... The pulmonary arteries carry blood from the heart to the lungs. ... The aorta (generally pronounced or ay-orta) is the largest artery in the human body, originating from the left ventricle of the heart and bringing oxygenated blood to all parts of the body in the systemic circulation. ...

Contents

Causes

Most of the time, this defect occurs spontaneously. Genetic disorders, and teratogens (viruses, metabolic imbalance, and industrial or pharmacological agents) have been associated as possible causes. Up to 50% (varies in studies) of cases are associated with chromosome 22q11 deletions. The neural crest, specifically a population known as the cardiac neural crest, directly contributes to the aorticopulmonary septum.[1] [2] Microablation of the cardiac neural crest in developing chick embryos and genetic anomalies affecting this population of cells in rodents results in persistent truncus arteriosus.[3] [4] [5] Numerous perturbations affecting the cardiac neural crest have been associated with persistent truncus arteriosus, some of which include growth factors (fibroblast growth factor 8 and bone mophogenetic protein), transcription factors (T-box, Pax, Nkx2-5, GATA-6,and Forkhead), and gap junction proteins (Connexin).The cardiac neural crest also contributes the smooth muscle of the great arteries. A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. ... Teratogenesis is a medical term from the Greek, literally meaning monster making. ... Chromosome 22 is one of the 23 pairs of chromosomes in humans. ... The neural crest, a component of the ectoderm, is one of several ridgelike clusters of cells found on either side of the neural tube in vertebrate embryos. ... The aorticopulmonary septum (also called the spiral septum) is developmentally formed from neural crest, specifically the cardiac neural crest, and actively separates the aorta and pulmonary arteries and fuses with the interventricular septum within the heart during development. ... Growth factor is a protein that acts as a signaling molecule between cells (like cytokines and hormones) that attaches to specific receptors on the surface of a target cell and promotes differentiation and maturation of these cells. ... In molecular biology, a transcription factor is a protein that binds DNA at a specific promoter or enhancer region or site, where it regulates transcription. ... A gap junction is a junction between certain animal/plant cell-types that allows different molecules and ions to pass freely between cells. ... Cultured Smooth muscle of the aorta. ... Great arteries is a term used to refer collectively to the primary arteries of the heart, which include: Pulmonary artery: the vessel that carries oxygen-depleted blood from the right ventricle to the lungs. ...


Anatomical changes

Anatomical changes associated with this disorder includes:

In the heart, a ventricle is a heart chamber which collects blood from an atrium (another heart chamber that is smaller than ventricle) and pumps it out of the heart. ... For the embryological structure, see Aortic arches. ... A ventricular septal defect (or VSD) is a defect in the ventricular septum (the wall dividing the left and right ventricles of the heart). ... In medicine, pulmonary hypertension (PH) is an increase in blood pressure in the pulmonary artery or lung vasculature, leading to shortness of breath, dizziness, fainting, and other symptoms, all of which are exacerbated by exertion. ...

Clinical manifestations

Cyanosis refers to the bluish coloration of the skin due to the presence of deoxygenated hemoglobin in blood vessels near the skin surface. ... Systolic is the adjective form of systole, typically referring to the contraction activity of the heart. ... Murmur has a number of meanings, including the following: Murmur To complain in low mumbling tones; grumble. ... Pulse pressure is the change in blood pressure seen during a contraction of the heart. ... The heart sounds are the noises (sound) generated by the beating heart and the resultant flow of blood through it. ... Cardiomegaly is a medical condition wherein the heart is enlarged. ... In medicine, hypocalcaemia is the presence of less than a total calcium of 2. ... DiGeorge syndrome is also called Microdeletion 22q11 syndrome (del 22q11. ...

Treatment

Treatment is with neonatal surgical repair.[6] The ventricular septal defect is closed with a patch. The pulmonary arteries are then detached from the common artery (truncus arteriosus) and connected to the right ventricle using a tube (a conduit or tunnel).


References

  1. ^ Kirby ML, Gale TF, and Stewart DE. (1983). "Neural crest cells contribute to normal aorticopulmonary septation.". Science 220 (4061): 1059-61. PMID 6844926. 
  2. ^ Jiang X, Rowitch DH, Soriano P, McMahon AP, Sucov HM.. (2000). "Fate of the mammalian cardiac neural crest...journal = Development." 127 (8): 1607-16. PMID 10725237. 
  3. ^ Hutson MR, Kirby ML.. (2003). "Neural crest and cardiovascular development: a 20-year perspective.". Birth Defects Res C Embryo Today. 69 (1): 2-13. PMID 12768653. 
  4. ^ Waller BR 3rd, McQuinn T, Phelps AL, Markwald RR, Lo CW, Thompson RP, Wessels A. (2000). "Conotruncal anomalies in the trisomy 16 mouse: an immunohistochemical analysis with emphasis on the involvement of the neural crest.". Anat. Rec. 260 (3): 279-93. PMID 11066038. 
  5. ^ Franz T. (1989). "Persistent truncus arteriosus in the Splotch mutant mouse.". Anat. Embryol. (Berlin). 180 (5): 457-64. PMID 2619088. 
  6. ^ Rodefeld M, Hanley F. "Neonatal truncus arteriosus repair: surgical techniques and clinical management.". Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 5: 212-7. PMID 11994881. 

External links


  Results from FactBites:
 
eMedicine - Truncus Arteriosus : Article by Doff McElhinney, MD (7155 words)
Truncus arteriosus type I is characterized by origin of a single pulmonary trunk from the left lateral aspect of the common trunk, with branching of the left and right pulmonary arteries from the pulmonary trunk.
Truncus arteriosus type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches from the posterolateral aspect of the common arterial trunk.
Truncus arteriosus is a congenital anomaly that is present from early in embryonic gestation.
TheFetus.net - Truncus arteriosus -Daniel Gauthier, MD, William, Meyer, MD, E. Charles Lampley Jr., MD (2093 words)
Persistent truncus arteriosus is a rare congenital cardiac malformation in which there is only a single common artery arising from the heart.
Truncus arteriosus is classified into two types, based on the presence (type A) or absence (type B) of a ventricular septal defect.
Persistent truncus arteriosus is thought to result from failure of the aorticopulmonary septum to develop and subsequently divide the truncus into the aorta and the pulmonary trunk
  More results at FactBites »

 
 

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