DEFINITION

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 never properly
divides into the pulmonary
artery and aorta.
COMPARISON OF NORMAL HEART WITH
TRUNCUS ARTERIOSUS
 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 aortic pulmonary septum.[5] [6]
 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.[7] [8] [9]
 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 morphogenetic 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.
 CLASSIFICATION

The most well-known classification was the

fourfold system developed by Collett and
Edwards in 1949. Collett/Edwards Types I, II, and
III are distinguished by the branching pattern of
the pulmonary arteries:[
 Type I: truncus -> one pulmonary artery -> two
lateral pulmonary arteries
 Type II: truncus -> two posterior/ postero lateral
pulmonary arteries
 Type III: truncus -> two lateral pulmonary
arteries
 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)
ANATOMICAL CHANGES
 Anatomical changes associated
with this disorder includes:
 single artery arising from the
two 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
 TREATMENT

Treatment is with neonatal surgical repair. 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).