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$Title{Truncus Arteriosus, Persistent}
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Copyright (C) 1986 National Organization for Rare Disorders, Inc.

180:
Truncus Arteriosus, Persistent

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.


The truncus arteriosus is a fetal structure which gives rise to the two
large arteries emerging from the heart, the aorta and the pulmonary artery.
When the truncus arteriosus persists beyond the fetal stage, blood from both
ventricles mixes and enters the pulmonary, coronary (serving the heart
muscle), and systemic (serving all the organs except the lungs and heart)
circulation.  Because not all the blood flowing to the body has passed through
the lungs to absorb oxygen, the tissues receive less oxygen than they should.
In addition, the pulmonary vasculature is eventually damaged by the
abnormally high blood pressures in the lungs.  Persistent Truncus Arteriosus
is a serious congenital heart defect, and is always accompanied by a
ventricular septal defect (i.e., a hole in the wall separating the right and
left ventricles).  The condition is often fatal during infancy.

Symptoms

The symptoms of Persistent Truncus Arteriosus resemble those of a severe
ventricular septal defect.  They consist of congestive heart failure,
cyanosis (a bluish tint to the flesh due to insufficient oxygen supply), an
enlarged heart, and gradual destruction of the blood vessels of the lungs due
to high pulmonary blood pressure.  Infants feed poorly and fail to grow and
develop normally.

Characteristic heart sounds, electrocardiographic findings, and blood
pressure abnormalities help in making the diagnosis.

Causes

The arrest or abnormality in embryonic development leading to congenital
heart defects such as Persistent Truncus Arteriosus may result from various
factors.  These may include maternal rubella (measles), excessive alcohol
consumption, or diabetes; heredity may also play a role in some cases.

Related Disorders

Various congenital heart defects are discussed in the Rare Disease Database.
Please note that Pseudotruncus Arteriosus is a synonym for Tetralogy of
Fallot, a different heart defect.  (For more information on this disorder,
choose "Tetralogy of Fallot" as your search term in the Rare Disease
Database.)

Therapies:  Standard

Medical measures to avert heart failure are fairly standard, and are of
limited value in Persistent Truncus Arteriosus.  Surgery may be possible in
some cases.

Therapies:  Investigational

This disease entry is based upon medical information available through May
1990 .  Since NORD's resources are limited, it is not possible to keep every
entry in the Rare Disease Database completely current and accurate.  Please
check with the agencies listed in the Resources section for the most current
information about this disorder.

Resources

For more information on Persistent Truncus Arteriosus, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     (203) 746-6518

     American Heart Association
     7320 Greenville Ave.
     Dallas, TX  75231
     (214) 750-5300

     NIH/National Heart, Lung and Blood Institute
     9000 Rockville Pike
     Bethesda, MD  20892
     (301) 496-4236

For information on genetics and genetic counseling referrals, please
contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     (914) 428-7100

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     (301) 652-5553

References

THE CECIL TEXTBOOK OF MEDICINE, 18th Ed.:  James B. Wyngaarden and Lloyd H.
Smith, Jr., Eds.; W.B. Saunders Co., 1988.  Pp. 308.