Persistent truncus arteriosus 2445854 221249555 2008-06-23T18:31:32Z DOI bot 6652755 Citation maintenance. You can [[WP:DOI|use this bot]] yourself! Please [[User:DOI_bot/bugs|report any bugs]]. {{DiseaseDisorder infobox | Name = Persistent Truncus Arteriosus | ICD10 = {{ICD10|Q|20|0|q|20}} | ICD9 = {{ICD9|745.0}} | Image = Gray469.png | Caption = Diagrams to illustrate the transformation of the [[bulbus cordis]]. Ao. [[Truncus arteriosus]]. Au. [[Atrium (heart)|Atrium]]. B. [[Bulbus cordis]]. RV. [[Right ventricle]]. LV. [[Left ventricle]]. P. [[Pulmonary artery]]. | ICDO = | OMIM = 217095 | DiseasesDB = 32081 | MedlinePlus = 001111 | eMedicineSubj = ped | eMedicineTopic = 2316 | MeshID = D014339 | }} '''Persistent truncus arteriosus''' (or '''Truncus arteriosus''') is a rare form of [[congenital heart disease]] that presents at birth. In this condition, the [[embryological]] structure known as the [[truncus arteriosus (embryology)|truncus arteriosus]] never properly divides into the [[pulmonary artery]] and [[aorta]]. ==Classification== The most well-known classification was the fourfold system developed by Collett and Edwards in 1949.<ref>Collett RW, Edwards JE: Persistent truncus arteriosus: a classification according to anatomic types. Surg Clin North Am 1949; 29: 1245-70.</ref> Collett/Edwards Types I, II, and III are distinguished by the branching pattern of the pulmonary arteries:<ref>{{cite web |url=http://www.merck.com/mmpe/sec19/ch287/ch287k.html |title=Persistent Truncus Arteriosus: Congenital Cardiovascular Anomalies: Merck Manual Professional |accessdate=2007-11-04 |format= |work=}}</ref><ref name="McElhinney">{{cite web |url=http://www.emedicine.com/ped/topic2316.htm |title=eMedicine - Truncus Arteriosus : Article by Doff McElhinney, MD |accessdate=2007-11-04 |format= |work=}}</ref> * Type I: truncus -> one pulmonary artery -> two lateral pulmonary arteries * Type II: truncus -> two posterior/posterolateral pulmonary arteries * Type III: truncus -> two lateral pulmonary arteries The "Type IV" proposed in 1949 is no longer considered a form of PTA by most modern sources.<ref name="McElhinney"> </ref> Another well-known classification was defined by Van Praaghs in 1965.<ref name="pmid5828135">{{cite journal |author=Van Praagh R, Van Praagh S |title=The anatomy of common aorticopulmonary trunk (truncus arteriosus communis) and its embryologic implications. A study of 57 necropsy cases |journal=Am. J. Cardiol. |volume=16 |issue=3 |pages=406–25 |year=1965 |pmid=5828135 |doi=}}</ref><ref name="McElhinney"> </ref> ==Causes== Most of the time, this defect occurs spontaneously. [[Genetic disorders]], and [[teratogen]]s (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 22]]q11 deletions. The [[neural crest]], specifically a population known as the cardiac neural crest, directly contributes to the [[aorticopulmonary septum]].<ref>{{cite journal | author = Kirby ML, Gale TF, and Stewart DE. | title = Neural crest cells contribute to normal aorticopulmonary septation. | journal = Science | volume = 220 | issue =4061 | pages = 1059–61 | year =1983 | pmid = 6844926 | doi = 10.1126/science.6844926}}</ref> <ref>{{cite journal | author = Jiang X, Rowitch DH, Soriano P, McMahon AP, Sucov HM..| title = Fate of the mammalian cardiac neural crest...journal = Development. | volume = 127| issue =8| pages = 1607–16 | year =2000 | pmid = 10725237}}</ref> 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.<ref>{{cite journal | author = Hutson MR, Kirby ML.. | title = Neural crest and cardiovascular development: a 20-year perspective. | journal = Birth Defects Res C Embryo Today. | volume = 69 | issue =1| pages = 2–13 | year =2003 | pmid = 12768653 | doi = 10.1002/bdrc.10002}}</ref> <ref>{{cite journal | author = Waller BR 3rd, McQuinn T, Phelps AL, Markwald RR, Lo CW, Thompson RP, Wessels A.| title = Conotruncal anomalies in the trisomy 16 mouse: an immunohistochemical analysis with emphasis on the involvement of the neural crest. | journal = Anat. Rec. | volume = 260 | issue =3| pages = 279–93 | year =2000 | pmid = 11066038| doi = 10.1002/1097-0185(20001101)260:3<279::AID-AR65>3.0.CO;2-2 }}</ref> <ref>{{cite journal | author = Franz T.| title = Persistent truncus arteriosus in the Splotch mutant mouse. | journal = Anat. Embryol. (Berlin). | volume = 180 | issue =5| pages = 457–64 | year =1989 | pmid = 2619088| doi = 10.1007/BF00305120 }}</ref> Numerous perturbations affecting the cardiac neural crest have been associated with persistent truncus arteriosus, some of which include [[growth factor]]s ([[fibroblast growth factor 8]] and [[bone morphogenetic protein]]), [[transcription factor]]s ([[T-box]], [[Pax genes|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]]. ==Anatomical changes == Anatomical changes associated with this disorder includes: * single artery arising from the two [[ventricle (heart)|ventricles]] which gives rise to both the aortic and pulmonary vessels * abnormal [[truncal valve]] * right sided [[aortic arch]] in about 30% of cases (not shown) * large [[ventricular septal defect]] * [[pulmonary hypertension]] * complete mixing occurring at level of the [[great vessel]] ==Clinical manifestations== * [[Cyanosis]] presents at birth * [[Heart failure]] occurs within weeks * [[Systolic]] ejection [[murmur]] is heard at the left sternal border * Widened [[pulse pressure]] * Bounding arterial pulses * Loud second [[heart sound]] * Biventricular hypertrophy * [[Cardiomegaly]] * Increased pulmonary vascularity * [[Hypocalcemia]] (if associated with [[DiGeorge syndrome]]) ==Treatment== Treatment is with neonatal surgical repair.<ref>{{cite journal | author = Rodefeld M, Hanley F | title = Neonatal truncus arteriosus repair: surgical techniques and clinical management. | journal = Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu | volume = 5 | issue = | pages = 212–7 | year = | pmid = 11994881}}</ref> 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== {{Reflist|2}} ==External links== * [http://www.cincinnatichildrens.org/health/heart-encyclopedia/anomalies/truncus.htm Truncus Arteriosus] Cincinnati Children's Medical Center * [http://heartcenter.seattlechildrens.org/conditions_treated/truncus_arteriosus.asp Truncus Arteriosus information] from Seattle Children's Hospital Heart Center * {{Chorus|00755}} * [http://www.kumc.edu/instruction/medicine/pedcard/cardiology/pedcardio/truncusdiagram.gif Diagram at kumc.edu] * [http://www.lpch.org/photos/greystone/ei_0427.gif Diagram at lpch.org] * [http://pedsccm.wustl.edu/All-Net/english/cardpage/operate/truncus/repair.html surgical repair, at wustl.edu] * [http://www.med.umich.edu/cvc/mchc/partrun.htm Overview] at [[University of Michigan]] {{Congenital malformations and deformations of circulatory system}} [[Category:Congenital heart disease]] [[Category:Cardiology]] [[Category:Cardiovascular system]] [[Category:Pediatrics]] [[pt:Truncus arteriosus]] [[fr:Tronc artériel commun]]