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Persistent Truncus Arteriosus

Persistent truncus arteriosus, also known as truncus arteriosus is a rare congenital heart disorder, part of the conotruncal abnormalities cluster, characterized by the fact that, during fetal life, the primitive arterial trunk fails to divide into the two great arteries: aorta and pulmonary. Therefore, a single artery that is large-sized supplies both systemic and pulmonary vascular beds. From this trunk arise the pulmonary arteries distally from the coronary arteries. A ventricular septal defect usually coexists, therefore this great arterial trunk will be filled from both ventricles, providing mixed (oxygenated and non-oxygenated) blood to distal territories.


Presentation

Persistent truncus arteriosus should be diagnosed early during childhood, despite the fact that cyanosis may sometimes be mild, especially in newborns, that normally have increased pulmonary resistance. It is a cyanotic heart disease and clinician's attention should be first drawn by heart failure signs: diaphoresis, poor feeding, failure to thrive and tachypnea. These gradually appear, as the pulmonary blood flow and, consequently, myocardial work increase.

Clinical examination reveals a hyperdynamic precordium, an ejection click, and a single, loud second heart sound, due to the fact that a single truncal valve exists. If this valve is insufficient, the regurgitant flow causes a murmur that is characterized as high-pitched, decrescendo and diastolic. Some studies [1] [2] find regurgitation to be an important risk factor for mortality, while others [3] [4] fail to do so. The severity of the regurgitation is, however, clinically important because, if severe, it leads to more pronounced and earlier heart failure symptoms. Auscultation is completed by a mild or intense systolic murmur along the left sternal border. A mid-diastolic mitral flow murmur can also be noted. This is because of the high pulmonary blood flow. Pulmonary over-circulation, if present, prevents severe desaturation and cyanosis.

The presentation is usually much more dramatic if patients also have an interrupted aortic arch and patent ductus arteriosus that is about to close. In this case, the clinician will diagnose cardiogenic shock.

Congestive Heart Failure
  • He had unilateral pulmonary hypertension from migration of pulmonary artery band from the main to the right pulmonary artery, severe truncal valve regurgitation from previous infective endocarditis, and progressive congestive heart failure.[ncbi.nlm.nih.gov]
  • heart failure and cyanosis; the interventricular septum is usually patent.[medical-dictionary.thefreedictionary.com]
  • Combined with truncal regurgitation which is present in most cases of persistent truncus arteriosus, many infants develop congestive heart failure within the neonatal period.[vhlab.umn.edu]
  • However, an incompetent or insufficient truncal valve can result in regurgitation of blood back into the ventricles and subsequent congestive heart failure (CHF).[radiologykey.com]
Cyanotic Congenital Heart Disease
  • Juxtaposition of the atrial appendage is a sign of severe cyanotic congenital heart disease, and this is best diagnosed by a selective right atriogram or superior venacavogram.[ncbi.nlm.nih.gov]
  • With a clinical picture of cyanotic congenital heart disease, with high pulmonary blood flow, we proceeded with the definitive tests.[nigjcardiol.org]
  • Diagnosis and management of cyanotic congenital heart disease: part I. Indian J Pediatr. 2009 Jan. 76(1):57-70. [Medline]. [Guideline] Saxena A. Consensus on timing of intervention for common congenital heart disease.[emedicine.com]
Fulminant Sepsis
  • Six patients died while waiting for surgery, 1 due to extreme prematurity and the others due to fulminant sepsis, necrotizing enterocolitis and disseminated intravascular coagulation.[karger.com]
Cyanosis
  • The patient had mild cyanosis and developed heart failure soon after birth. Balloon septostomy was performed to enlarge the interatrial communication.[ncbi.nlm.nih.gov]
  • Physiologic consequences of type I include mild cyanosis, heart failure (HF), and significant pulmonary overcirculation.[checkorphan.org]
  • Persistent truncus arteriosus should be diagnosed early during childhood, despite the fact that cyanosis may sometimes be mild, especially in newborns, that normally have increased pulmonary resistance.[symptoma.com]
Vascular Disease
  • This case demonstrated that in patients with persistent truncus arteriosus and two pulmonary arteries, pulmonary vascular disease or underdevelopment of one lung does not preclude a full corrective surgery so long as the other vascular bed is normal.[ncbi.nlm.nih.gov]
  • These findings suggested that late correction of TA should be undertaken prior to the development of pulmonary vascular disease.[cardiothoracicsurgery.biomedcentral.com]
Single S2
  • Physical examination may detect a hyperdynamic precordium, increased pulse pressure, a loud and single S2, and an ejection click. A grade 2 to 4/6 holosystolic murmur is audible along the left sternal border.[checkorphan.org]
  • There is a right ventricular tap at the left sternal border, systolic ejection murmur due to RVOTO, and single S2. The VSD is usually non-restrictive and does not produce a heart murmur .[utmb.edu]
Bounding Pulse
  • Physical examination may detect a hyperdynamic precordium, increased pulse pressure with bounding pulses, a loud and single 2nd heart sound (S2), and an ejection click.[merckmanuals.com]
Quadriplegia
  • […] seizures (n 10), cleft palate (n 6), renal abnormalities (n 6), bilateral choanal atresia (n 3), cardiofacial syndrome (n 3), esophageal atresia (n 2), tracheoesophageal fistula (n 1), Hemophilia A (n 1), chest wall anomalies (n 1), omphalocele (n 1), quadriplegia[onlinejacc.org]
Neonatal Seizures
  • Noncardiac abnormalities Noncardiac abnormalities were described in 81 patients and included DiGeorge syndrome (n 22), dysmorphic features (n 18), neonatal seizures (n 10), cleft palate (n 6), renal abnormalities (n 6), bilateral choanal atresia (n 3)[onlinejacc.org]
Intracranial Hemorrhage
  • Causes of death included pulmonary hemorrhage in one patient, intracranial hemorrhage in one and cardiac tamponade in one patient, with the remainder of patients dying from circulatory failure.[onlinejacc.org]

Workup

Blood workup in persistent truncus arteriosus should include measurement of arterial blood gas, performed before and after a hyperoxia test if the diagnosis is uncertain. This test can also reveal acidosis if present. Electrolytes, especially total and ionized calcium should also be measured, due to the frequent association of truncus arteriosus with DiGeorge syndrome.

The thoracic radiograph shows raised pulmonary vascular markings due to pulmonary over-circulation along with cardiomegaly. A right aortic arch may coexist and be seen with this method [5]. The pulmonary arteries originate high from the common trunk.

The electrocardiogram usually shows both right and left ventricular hypertrophy. A left atrial enlargement may be present if pulmonary over-circulation is marked. Axis may slightly deviate to the right.

Echocardiography is used to establish the diagnosis. Subcostal and parasternal long axis views are key when aiming to demonstrate the single trunk arising from both ventricles and the existence of a ventricular septal defect. The trunk may override the interventricular septum in variable degrees, therefore originating more from the left or from the right ventricle. It is also important to characterize the truncal valve in terms of anatomy and function (stenosis or regurgitation) and this can be performed by doppler color imaging. The subcostal view is also used to observe the origins of the pulmonary and coronary arteries.

Prenatal echocardiography can raise disease suspicion, but differential diagnosis with similar malformations may prove difficult [6]. Four-dimensional fetal echocardiography may improve accuracy [7].

Cardiac catheterization is only used when coronary artery origin and anatomy cannot be properly characterized using echocardiography, in a preoperative setting [8].

Right Axis Deviation
  • ECG shows right axis deviation, right ventricular hypertrophy, and occasionally right atrial enlargement.[merck.com]
Left Axis Deviation
  • Cardiomegaly and increased pulmonary vascular markings on the chest x-ray film and left axis deviation with left ventricular hypertrophy on the ECG are usually present.[ncbi.nlm.nih.gov]
Biventricular Hypertrophy
  • hypertrophy Cardiomegaly Increased pulmonary vascularity Hypocalcemia (if associated with DiGeorge syndrome) The most well-known classification was the fourfold system developed by Collett and Edwards in 1949.[en.wikipedia.org]
  • hypertrophy Cardiomegaly Increased pulmonary vascularity Hypocalcemia (if associated with DiGeorge syndrome ) Treatment Treatment is with neonatal surgical repair, with the objective of restoring a normal pattern of blood flow. [11] The surgery is open[ipfs.io]
  • Electrocardiogram showed features of biventricular hypertrophy. Chest X-ray showed features of cardiomegaly and right aortic arch.[annals.in]
  • Making the Diagnosis EKG may show biventricular hypertrophy. CXR shows increased pulmonary vascular markings and prominent ascending aorta. It may also be suggestive of right aortic arch (25% of cases).[utmb.edu]
  • Biventricular hypertrophy is frequently seen. The left atrium may be dilated. A right-sided aortic arch is frequently present. Interruption of the aortic arch is occasionally present. Coronary artery anatomy can be assessed.[ejca.eg.net]
Left Atrial Hypertrophy
  • Substantial pulmonary overcirculation may produce evidence of left atrial hypertrophy. Prognosis - Persistent truncus arteriosus Not supplied.[checkorphan.org]

Treatment

  • Between September 2006 and 2016, 105 patients with persistent truncus arteriosus (PTA) received surgical treatment at Shanghai Children's Medical Center.[ncbi.nlm.nih.gov]
  • Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Please see also our disclaimer . This site complies with the HONcode standard for health information: verify here . Database updated 2019-02-19.[diseasesdatabase.com]

Prognosis

  • It has an extremely poor prognosis and carries a high mortality rate during the early years of life unless surgically repaired.[ncbi.nlm.nih.gov]
  • Prognosis - Persistent truncus arteriosus Not supplied.[checkorphan.org]
  • (Outcomes/Resolutions) With proper diagnosis, treatment, and medications, the prognosis for Patent Ductus Arteriosus is excellent.[dovemed.com]
  • Long-term prognosis is dependent on need for reintervention for truncal valve repair/replacement and structural failure of the RV-PA conduit.[accesssurgery.mhmedical.com]

Etiology

  • Figure 3: Postrepair mid-esophageal ascending aortic short axis colour flow Doppler showing right ventricle to pulmonary artery conduit Click here to view Truncus arteriosus, also known as common arterial trunk is a rare CHD ( [1] Etiology is mostly genetic[annals.in]
  • (Etiology) The exact cause of Truncus Arteriosus is not known, but the process of disease development occurs in the following manner: When the fetus develops during pregnancy, the heart starts developing with a single large blood vessel, which starts[dovemed.com]
  • Kern, Altered versican cleavage in ADAMTS5 deficient mice; A novel etiology of myxomatous valve disease, Developmental Biology, 10.1016/j.ydbio.2011.06.041, 357, 1, (152-164), (2011).[doi.org]

Epidemiology

  • A number of these cases have survived well into adulthood. [12] Epidemiology Persistent truncus arteriosus is a rare cardiac abnormality that has a prevalence of less than 1%. [1] [13] Additional images See also Truncus arteriosus (embryology) Patent[ipfs.io]
  • Epidemiology Truncus arteriosus is a rare cyanotic cardiac malformation with an incidence of 0.07 per 1000 live births (1.1 percent of all cardiac anomalies), with 40 percent of patients disclosing 22q11 deletion on genetic testing.[accesssurgery.mhmedical.com]
  • Gabor Mezei, Madhuri Sudan, Shai Izraeli and Leeka Kheifets, Epidemiology of childhood leukemia in the presence and absence of Down syndrome, Cancer Epidemiology, 10.1016/j.canep.2014.07.006, 38, 5, (479-489), (2014).[doi.org]
  • Epidemiology TA is responsible for 0.21%-0.34 % of congenital heart defects Incidence has been found to be 0.03-0.05/1,000 live births.[pedclerk.bsd.uchicago.edu]
  • Epidemiology Frequency United States Truncus arteriosus represents 1-2% of congenital heart defects in liveborn infants.[emedicine.com]
Sex distribution
Age distribution

Pathophysiology

  • (Click picture to show/hide bloodflows) Pathophysiology The result of intracardiac mixing of the systemic and pulmonary venous return is systemic desaturation.[vhlab.umn.edu]
  • Truncus Arteriosus Background, Pathophysiology, All students in the School of Health Professions are required to follow and abide by policies stated in the KU School of Health Professions student handbook as well as those defined in the handbook of the[ucsfcme.com]
  • Kay PH, Brass T, Lincoln C (1989) The pathophysiology of atypical tamponade in infants undergoing cardiac surgery. Eur J Cardiothorac Surg 3: 255–261 PubMed CrossRef Google Scholar 12.[link.springer.com]
  • Grasp the full scope of the pathophysiology of CHD with well-organized, expert guidance. Quickly search the contents online, download images in JPG or PPT format, and view 70 echocardiogram videos at expertconsult.com.[books.google.ro]
  • Pathophysiology Typically, there is intracardiac mixing (atrial and/or ventricular septal defect) with pulmonary over-circulation and, if interrupted aortic arch (IAA) is present, features of duct-dependent distal aortic perfusion.[accesssurgery.mhmedical.com]

Prevention

  • Early operation may prevent pulmonary vasculopathy. However, the results in complex PTA remain poor.[ncbi.nlm.nih.gov]
  • Prevention In most cases, congenital heart disease, such as truncus arteriosus can not be prevented.[resultmed.com]
  • Pulmonary over-circulation, if present, prevents severe desaturation and cyanosis. The presentation is usually much more dramatic if patients also have an interrupted aortic arch and patent ductus arteriosus that is about to close.[symptoma.com]
  • Prevention - Persistent truncus arteriosus Not supplied.[checkorphan.org]
  • There is no known prevention. Early treatment can often prevent serious complications. Fraser CD, Kane LC. Congenital heart disease. In: Townsend CM Jr, Beauchamp RD, Evers BM, Mattox KL, eds.[nlm.nih.gov]

References

Article

  1. Rajasinghe H, McElhinney D, Reddy V, et al. Long-term follow-up of truncus arteriosus repaired in infancy: a twenty-year experience. J Thorac Cardiovasc Surg. 1997;113:869–879.
  2. Hanley F, Heinemann M, Jonas R, et al. Repair of truncus arteriosus in the neonate. J Thorac Cardiovasc Surg. 1993;105:1047–1056.
  3. Brown J, Ruzmetov M, Okada Y, et al. Truncus arteriosus repair : Outcomes, risk factors, reoperation and management. Eur J Cardiothorac Surg. 2001;20:221–227.
  4. Kaza A, Burch P, Pinto N, et al. Durability of truncal valve repair. Ann Thorac Surg. 2010;90:1307–1312.
  5. Hallermann F, Kincaid O, Tsakiris A, et al. Persistent truncus arteriosus. A radiographic and angiocardiographic study. Am J Roentgenol Radium Ther Nucl Med. 1969;107(4): 827-834.
  6. Swanson T, Selamet E, Tworetzky W, et al. Truncus arteriosus: diagnostic accuracy, outcomes, and impact of prenatal diagnosis. Pediatr Cardiol. 2009;30(3):256-261.
  7. Turan S, Turan OM, Desai A, et al. First-trimester fetal cardiac examination using spatiotemporal image correlation, tomographic ultrasound and color Doppler imaging for the diagnosis of complex congenital heart disease in high-risk patients. Ultrasound Obstet Gynecol. 2014;44(5):562-567.
  8. Rao PS. Diagnosis and management of cyanotic congenital heart disease: part I. Indian J Pediatr. 2009;76(1):57-70.

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Last updated: 2019-07-11 20:14