Prenatal diagnosis of Shone syndrome : parental counseling

Ultrasound Obstet Gynecol 2004; 24: 629–632
Published online in Wiley InterScience (www.interscience.wiley.com). DOI: 10.1002/uog.1753
Prenatal diagnosis of Shone’s syndrome: parental counseling and clinical outcome
N. ZUCKER, A. LEVITAS and E. ZALZSTEIN
Pediatric Cardiology Unit, Department of Pediatrics, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel
KEYWORDS: fetal echocardiography; prenatal diagnosis; Shone’s syndrome

ABSTRACT
Objective To describe a series of fetuses diagnosed as
having Shone’s syndrome, which includes four cardiac
defects and for which there is a wide variety of clinical
presentations, surgical treatments and outcomes, and to
discuss the counseling strategy.
Methods We reviewed retrospectively the records of four
babies who were suspected prenatally to have Shone’s
syndrome.
Results The mean age at diagnosis was 27.5 (range,
22–35) weeks. A small left ventricle, mitral and aortic
annulus and ascending aorta were detected in three cases.
In three fetuses there was an abnormal mitral valve
apparatus and in two fetuses a sub-aortic membrane was
detected. Coarctation of the aorta was an impending
diagnosis in three babies. Following counseling, all
parents decided to continue the pregnancy to term.
Echocardiographic evaluation was performed soon after
birth. The mean mitral valve annulus diameter was 8.2
(range, 7–10) mm, and that of the aortic valve annulus
was 6 (range, 5–7) mm. The aortic valve was bicuspid in
all babies with an additional sub-aortic membrane in two
babies. Doppler ultrasound examination revealed highvelocity
flow through the mitral valve in three babies; two
of them had a parachute mitral valve. Coarctation repair
was performed in two babies during the first week of
life. One patient underwent mitral valvuloplasty followed
by later mitral valve replacement. All patients were alive
after a mean of 7.8 (range, 3.3–10.5) years’ follow-up.
Conclusion When counseling families regarding fetal
Shone’s syndrome, it is important to emphasize the wide
variety of clinical presentations and possible outcomes.
Differentiation between hypoplastic left ventricle and
Shone’s complex is crucial and may influence the
physician’s attitude, the presentation of the case to the
family and the family’s final decision. Copyright  2004
ISUOG. Published by John Wiley & Sons, Ltd.