CARDIOVASCULAR JOURNAL OF AFRICA • Vol 22, No 5, September/October 2011
AFRICA
245
Echocardiographic findings in children with Marfan
syndrome
OSMAN OZDEMİR, RANA OLGUNTURK, SERDAR KULA, FATMA SEDEF TUNAOGLU
Summary
Background:
The typical cardiac manifestations of Marfan
syndrome are aortic regurgitation with progressive dilatation
of the aortic root, which may cause dissection and rupture of
the ascending aorta, mitral valve prolapse and mitral valve
regurgitation. In this study, we aimed to show echocardio-
graphic findings in 11 patients with Marfan syndrome.
Methods:
Diagnosis of Marfan syndrome was based on the
Ghent criteria. All patients had a full echocardiographic
evaluation. During the evaluation, we investigated the pres-
ence of mitral valve prolapse, mitral valve regurgitation,
tricuspid valve prolapse, dilatation of the aortic root, and
aortic regurgitation.
Results:
Eleven patients were diagnosed as Marfan syndrome
(seven male, four female, age 4–14 years). All had mitral
valve prolapse (nine with mitral valve regurgitation). Among
these 11 patients, seven had accompanying tricuspid valve
prolapse, six had dilatation of the aortic root and two had
aortic regurgitation.
Conclusion:
Eleven patients in our clinic were diagnosed
as Marfan syndrome since they had distinct characteristics
of marfanoid phenotype. Echocardiographic evaluation of
these patients showed marked heart valve involvement. In
Marfan syndrome, it is known that the aortic valve is affected
following mitral valve involvement. In our experience, aortic
root dilatation is less common. However, particular attention
should be given to following up aortic root status with non-
invasive echocardiography to institute measures to prevent
complications.
Keywords:
dilatation of the aortic root, echocardiography,
Marfan syndrome, mitral valve prolapse
Submitted 10/2/10, accepted 7/9/10
Published online 15/12/10
Cardiovasc J Afr
2011;
22
: 245–248
DOI: 10.5830/CVJA-2010-085
Marfan syndrome (MFS) is an autosomal, dominantly inherited
connective tissue disorder that affects the cardiovascular system,
skeleton, eyes and lungs. Its incidence is two to three per 10 000
individuals.
1-3
Mutation on chromosome 15 (15q21) and other
mutations related to the fibrillin 1 (FBN1) gene have been
reported.
4,5
Despite these defined mutations, diagnosis of MFS is
still based on clinical evaluation and family history.
1
The Ghent
criteria are used for the diagnosis.
3
Typical characteristics of
the disease are aortic valve regurgitation (AR) with progressive
dilatation of the aorta, which may cause dissection and rupture
of the ascending aorta, mitral valve prolapse (MVP), mitral
regurgitation (MR), lens dislocation, myopia, thin stature with
long extremities, arachnodactilia, chest wall abnormalities and
scoliosis.
1-3
Survival of the patients depends on preventing or control-
ling cardiovascular complications. Dilatation of the aorta is the
main cause of mortality and morbidity in MFS, but it has been
reported that MVP and MR are the most important causes of
morbidity during childhood.
1
In this study, echocardiographic
evaluation of 11 children diagnosed as MFS during a four-year
period is reported.
Methods
In this study from January 2003 to January 2007, we report
on echocardiographic findings of 11 patients who were evalu-
ated for MFS in the Department of Paediatric Cardiology. The
parents of all subjects signed an informed consent and the study
complied with the Declaration of Helsinki and was approved by
the local ethics committee.
Diagnosis of MFS was based on the Ghent criteria.
3
In the
absence of a family history of MFS, diagnosis was based on
patients having major criteria in two different systems, with
involvement in the third system, or having major criteria in one
system, with involvement in the second system and mutation of
FBN1. In patients with first-degree relatives with MFS, major
findings in one system and involvement in the second system
were used as diagnostic criteria.
1-3
According to the Ghent criteria, major findings in the skeletal
system are pectus carinatum, pectus excavatum requiring surgery,
upper-to-lower segment ratio
<
0.86 or arm span-to-height ratio
>
1.05, wrist (Walker-Murdoch) and thumb (Steinberg) signs for
arachnodactyly, scoliosis of
>
20° or spondylolisthesis, reduced
extension at the elbows
(<
170°), medial displacement of the
medial malleolus causing pes planus and protrusio acetabuli of
any degree. Minor findings are: pectus excavatum, joint hyper-
mobility, highly arched palate with crowding of teeth, and facial
appearance (dolichocephaly, malar hypoplasia, enophthalmos,
retrognathia, down-slanting palpebral fissures).
While ectopia lentis is a major finding in ocular evaluation,
flat cornea, increased axial length of globe (
<
23.5 mm) and
hypoplastic iris or hypoplastic ciliary muscle causing decreased
meiosis are minor findings.
Major findings in the cardiovascular system are dilatation of
the aorta with or without AR, involving at least the sinuses of
Valsalva and dissection of the ascending aorta. Minor findings in
the cardiovascular system are MVP with or without MR, dilata-
tion of the main pulmonary artery in the absence of valvular or
peripheral pulmonary artery stenosis under the age of 40 years,
calcification of the mitral annulus under the age of 40 years, and
dilatation or dissection of the descending thoracic or abdominal
Kecioren Training and Research Hospital, Ankara, Turkey
OSMAN OZDEMİR, MD,
RANA OLGUNTURK, MD
SERDAR KULA, MD
FATMA SEDEF TUNAOGLU, MD
