Persistent truncus arteriosus: Difference between revisions

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{{see also|Truncus arteriosus}}

{{DiseaseDisorder infobox |

{{Infobox medical condition (new)

Name = Persistent Truncus Arteriosus |

| name ICD10 = {{ICD10|Q|20|0|q|20}}Persistent |truncus arteriosus

| ICD9image = {{ICD9|745Truncus arteriosus.0}} |jpg

| caption Image = Illustration =of Gray469.pngtruncus |arteriosus

|

Width = 300 |

| pronounce =

Caption = BEFORE DIVISION: Ao. [[truncus arteriosus (embryology)|Truncus arteriosus]]. B. [[Bulbus cordis]]. RV. [[Right ventricle]]. LV. [[Left ventricle]]. Au. [[Atrium]]. <BR><BR>AFTER DIVISION: P. [[Pulmonary artery]]. Ao. [[Aorta]]. |

| ICDOfield = |

| synonyms = Truncus Arteriosus, Truncus Arteriosus Communis, Patent truncus arteriosus, or Common arterial trunk

OMIM = 217095 |

| symptoms DiseasesDB = 32081 |=

| complications =

MedlinePlus = 001111 |

| onset =

eMedicineSubj = ped |

| duration =

eMedicineTopic = 2316 |

| types =

MeshName = Truncus+Arteriosus,+Persistent |

| causes =

MeshNumber = C14.240.400.929 |

| risks =

| diagnosis =

| differential =

| prevention =

| treatment =

| medication =

| prognosis =

| frequency =

| deaths =

}}

'''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 (embryology)|Truncus arteriosus]]. In the condition, the vessel never properly divides into the [[pulmonary artery]] and [[aorta]].

'''Persistent truncus arteriosus''' ('''PTA'''),<ref>{{Cite journal|doi = 10.1186/s13019-016-0435-x|title = Surgical correction of persistent truncus arteriosus on a 33-year-old male with unilateral pulmonary hypertension from migration of pulmonary artery band|year = 2016|last1 = Ruan|first1 = Wen|last2 = Loh|first2 = Yee Jim|last3 = Guo|first3 = Kenneth Wei Qiang|last4 = Tan|first4 = Ju Le|journal = Journal of Cardiothoracic Surgery|volume = 11|page = 39|pmid = 27025216|pmc = 4812612|s2cid = 13742890|doi-access = free}}</ref> often referred to simply as '''truncus arteriosus''',<ref name="franklin" /> 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]] fails to properly divide into the [[pulmonary trunk]] and [[aorta]]. This results in one arterial trunk arising from the heart and providing mixed blood to the [[coronary arteries]], [[pulmonary arteries]], and [[systemic circulation]].<ref name="cardiac emergencies pmid 23915599"/> For the [[ICD-11|International Classification of Diseases (ICD-11)]], the International Paediatric and Congenital Cardiac Code (IPCCC) was developed to standardize the nomenclature of congenital heart disease. Under this system, English is now the official language, and persistent truncus arteriosus should properly be termed '''common arterial trunk'''.<ref name="franklin">{{cite journal|

last1=Franklin|first1=Rodney|last2=Béland|first2=Marie|last3=Colan|first3=Steven|last4=Walters|first4=Henry|last5=Aiello|first5=Vera|last6=Anderson|first6=Robert|last7=Bailliard|first7=Frédérique|last8=Boris|first8=Jeffrey|last9=Cohen|first9=Meryl|last10=Gaynor|first10=J William|last11=Guleserian|first11=Kristine|last12=Houyel|first12=Lucile|last13=Jacobs|first13=Marshall|last14=Juraszek|first14=Amy|last15=Krogmann|first15=Otto|last16=Kurosawa|first16=Hiromi|last17=Lopez|first17=Leo|last18=Maruszewski|first18=Bohdan|last19=St Louis|first19=James|last20=Seslar|first20=Stephen|last21=Srivastava|first21=Shubhika|last22=Stellin|first22=Giovanni|last23=Tchervenkov|first23=Christo|last24=Weinberg|first24=Paul|last25=Jacobs|first25=Jeffrey|title=Nomenclature for congenital and paediatric cardiac disease: the International Pediatric and Congenital Cardiac Code (IPCCC) and the Eleventh Iteration of the International Classification of Diseases (ICD-11)|journal=Cardiology in the Young|date= Dec 2017|volume=27|issue=10|pages=1872–1938|doi=10.1017/S1047951117002244|pmid=29286277|doi-access=free}}</ref>

==Causes==

Most of the time, this defect occurs spontaneously. [[Genetic disorders]], and [[teratogensteratogen]]s (viruses, metabolic imbalance, and industrial or pharmacological agents) have been associated as possible causes. UptoUp to 50% (varies in studies) of cases are associated with [[chromosome 22]]q11 deletions ([[DiGeorge Syndrome]]). The [[neural crest]], specifically a population known as the cardiac neural crest, directly contributes to the [[aorticopulmonary septum]].<ref>{{cite journal | authorvauthors = Kirby ML, Gale TF, and Stewart DE. | title = Neural crest cells contribute to normal aorticopulmonary septation. | journal = Science | volume = 220 | issue =4061 4601 | pages = 1059-611059–61 | yeardate = June 1983 | idpmid = PMID 6844926}}</ref>Microablation of| thedoi cardiac= neural10.1126/science.6844926 crest| inbibcode developing= chick1983Sci...220.1059K embryos}}</ref><ref>{{cite andjournal genetic| anomaliesvauthors affecting= thisJiang populationX, ofRowitch cellsDH, inSoriano rodentsP, resultsMcMahon inAP, persistentSucov truncusHM arteriosus.| Numeroustitle = pertubationsFate of the mammalian cardiac neural crest have| beenjournal associated= withDevelopment persistent| truncusvolume arteriosus,= some127 of| whichissue include [[growth factors]] (fibroblast growth factor= 8 and| bonepages mophogenetic= protein),1607–16 [[transcription| factors]]date (T-box,= Pax,April Nkx2-5,2000 GATA-6,and| Forkhead),doi and= [[gap junction]] proteins (Connexin)10.1242/dev.The127.8.1607 cardiac| neuralpmid crest= also10725237 contributes the [[smooth muscle]] of the [[great arteries]].}}</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 | vauthors = Hutson MR, Kirby ML | title = Neural crest and cardiovascular development: a 20-year perspective | journal = Birth Defects Research. Part C, Embryo Today | volume = 69 | issue = 1 | pages = 2–13 | date = February 2003 | pmid = 12768653 | doi = 10.1002/bdrc.10002 | doi-access = free }}</ref><ref>{{cite journal | vauthors = Waller BR, 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 = The Anatomical Record | volume = 260 | issue = 3 | pages = 279–93 | date = November 2000 | pmid = 11066038 | doi = 10.1002/1097-0185(20001101)260:3<279::AID-AR65>3.0.CO;2-2 | s2cid = 45359927 | doi-access = free }}</ref><ref>{{cite journal | vauthors = Franz T | title = Persistent truncus arteriosus in the Splotch mutant mouse | journal = Anatomy and Embryology | volume = 180 | issue = 5 | pages = 457–64 | year = 1989 | pmid = 2619088 | doi = 10.1007/BF00305120 | s2cid = 24116967 }}</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]].{{citation needed|date=September 2020}}

==Pathophysiology==

==Anatomical changes ==

[[Image:TruncusArteriosus.svg|thumb|right|190px]]

Anatomical changes associated with this disorder includes:

Anatomical changes associated with this disorder includes:{{citation needed|date=September 2020}}

* single artery arising from the two [[ventricles]] which gives rise to both the aortic and pulmonary vessels

* 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)

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* [[pulmonary hypertension]]

* complete mixing occurring at level of the [[great vessel]]

* right-to-left shunting of blood

==Diagnosis==

==Clinical manifestations==

The diagnosis is based on:{{cn|date=February 2021}}

* [[Cyanosis]] presents at birth

* [[Heart failure]] occursmay occur within weeks

* [[Systole (medicine)|Systolic]] ejection [[Heart murmur|murmur]] is heard at the left sternal border

* Widened [[pulse pressure]]

* Bounding arterial pulses

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* Increased pulmonary vascularity

* [[Hypocalcemia]] (if associated with [[DiGeorge syndrome]])

===Classification===

A well-known classification is 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=https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/persistent-truncus-arteriosus |title=Persistent Truncus Arteriosus: Congenital Cardiovascular Anomalies: Merck Manual Professional |access-date=2021-02-11 }}</ref><ref name="McElhinney">{{cite web |url=http://www.emedicine.com/ped/topic2316.htm |title=eMedicine - Truncus Arteriosus : Article by Doff McElhinney, MD |access-date=2007-11-04 }}</ref>

* Type I: The branch pulmonary arteries arise from a single "main pulmonary artery" arising from the lateral surface of the common trunk

* Type II: The branch pulmonary arteries arises separately, but near each other posteriorly off the common trunk

* Type III: The branch pulmonary arteries arise separately and far apart off the common trunk

* Type IV: The branch pulmonary arteries arise distally off the aorta, or the lungs are supplied by multiple aortopulmonary collaterals. Type IV is now considered a form of [[Tetralogy of Fallot]] and not Common Arterial Trunk.<ref name="McElhinney"/>

Another well-known classification was defined by [[Stella Van Praagh|Stella]] and [[Richard Van Praagh]] in 1965.<ref name="McElhinney"/><ref name="pmid5828135">{{cite journal | vauthors = 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 = The American Journal of Cardiology | volume = 16 | issue = 3 | pages = 406–25 | date = September 1965 | pmid = 5828135 | doi = 10.1016/0002-9149(65)90732-0 | doi-access = free }}</ref> In this classification scheme, the preceding letter ("A" or "B") refers to the presence or absence, respectively, of a [[ventricular septal defect]]. Type B common arterial trunk is extremely rare; so below, only Type A is considered:{{cn|date=October 2021}}

* Type A1: The branch pulmonary arteries arise from a single "main pulmonary artery" arising from the lateral surface of the common trunk (Collett & Edwards Type I)

* Type A2: The branch pulmonary arteries arise separately off the common trunk (includes both Collett & Edwards Types II and III).

* Type A3: One branch pulmonary artery arises off the common trunk, and one branch pulmonary artery is isolated, arising from a [[patent ductus arteriosus]].

* Type A4: Common arterial trunk in association with [[interrupted aortic arch]].

As both of the above schemes involve four numerals, they can be easily confused. For this reason, the Collette & Edwards scheme usually uses roman numerals while the Van Praagh system uses arabic numerals and the preceding "A". Ambiguity as to the system being used can lead to misunderstanding.

The classification in the International Paediatric and Congenital Cardiac Code (IPCCC) attempts to eliminate this source of confusion with the following nomenclature scheme, which removes the use of numbered types:<ref name="franklin"/>

* Common arterial trunk with aortic dominance and both pulmonary arteries arising from trunk (includes Collette & Edwards Types I, II, and III and Van Praagh types 1 and 2).

* Common arterial trunk with aortic dominance and one pulmonary artery absent from trunk, isolated pulmonary artery (Van Praagh type 3).

* Common arterial trunk with pulmonary dominance and aortic arch obstruction (Van Praagh type 4)

==Treatment==

Treatment is with neonatal surgical repair, with the objective of restoring a normal pattern of blood flow.<ref>{{cite journal | authorvauthors = Rodefeld MMD, Hanley FFL | title = Neonatal truncus arteriosus repair: surgical techniques and clinical management. | journal = SeminSeminars Thoracin CardiovascThoracic Surgand Cardiovascular Surgery. PediatrPediatric CardCardiac SurgSurgery AnnuAnnual | volume = 5 | issue = 1 | pages = 212-7212–7 | year = 2002 | idpmid = PMID 11994881 | doi = 10.1053/pcsu.2002.31497 }}</ref> The surgery is open heart, and the patient will be placed on [[cardiopulmonary bypass]] to allow the surgeon to work on a still heart. The heart is opened and 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). The common artery, now separated from the pulmonary circulation, functions as the aorta with the truncal valve operating as the aortic valve. Most babies survive this surgical repair, but may require further surgery as they grow up. For example, the conduit does not grow with the child and may need to be replaced as the child grows. Furthermore, the truncal valve is often abnormal and may require future surgery to improve its function.

There have been cases where the condition has been diagnosed at birth and surgical intervention is an option. A number of these cases have survived well into adulthood.<ref name="pmid15872317">{{cite journal | vauthors = Haskal ZJ | title = SIR 2005 Annual Meeting Film Panel Case: hemoptysis and bronchial artery embolization in an adult with uncorrected truncus arteriosus and Eisenmenger syndrome | journal = Journal of Vascular and Interventional Radiology | volume = 16 | issue = 5 | pages = 635–8 | year = 2005 | pmid = 15872317 | doi = 10.1097/01.RVI.0000161372.87971.84 }}</ref>

==ReferencesEpidemiology==

Persistent truncus arteriosus is a rare cardiac abnormality that has a [[prevalence]] of less than 1%.<ref name="cardiac emergencies pmid 23915599">{{cite journal | vauthors = Barata IA | title = Cardiac emergencies | journal = Emergency Medicine Clinics of North America | volume = 31 | issue = 3 | pages = 677–704 | date = August 2013 | pmid = 23915599 | doi = 10.1016/j.emc.2013.04.007 }}</ref><ref>{{cite journal | vauthors = Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Anderson P, Mason CA, Collins JS, Kirby RS, Correa A | title = Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006 | journal = Birth Defects Research. Part A, Clinical and Molecular Teratology | volume = 88 | issue = 12 | pages = 1008–16 | date = December 2010 | pmid = 20878909 | doi = 10.1002/bdra.20735 }}</ref>

<references/>

==ExternalAdditional linksimages==

<gallery>

*

Image:Gray469.png|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]].

[http://www.cincinnatichildrens.org/health/heart-encyclopedia/anomalies/truncus.htm Truncus Arteriosus] Cincinnati Children's Medical Center

</gallery>

*

[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 umich.edu]

== See also ==

[[Category:Congenital heart disease]]

* [[Truncus arteriosus (embryology)]]

[[Category:Cardiology]]

* [[Patent ductus arteriosus]]

[[Category:Cardiovascular system]]

[[Category:Pediatrics]]

== References ==

{{Reflist}}

== External links ==

* [https://web.archive.org/web/20120908131414/http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002101/ A.D.A.M. Medical Encyclopedia] from NCBI site.

* [https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/truncus-arteriosus/ Truncus arteriosus]

{{Medical resources

| ICD10 = {{ICD10|Q|20|0|q|20}}

| ICD9 = {{ICD9|745.0}}

| ICDO =

| OMIM = 217095

| DiseasesDB = 32081

| MedlinePlus = 001111

| eMedicineSubj = ped

| eMedicineTopic = 2316

| MeshID = D014339

}}

{{Congenital malformations and deformations of circulatory system}}

{{DEFAULTSORT:Persistent Truncus Arteriosus}}

[[pt:Truncus arteriosus]]

[[Category:Congenital heart defects]]

[[fr:Tronc artériel commun]]

[[Category:Rare diseases]]