Circulation. 1999;100:e57-e58
(Circulation. 1999;100:e57-e58.)
© 1999 American Heart Association, Inc.
Circulation Electronic Pages |
Skin Manifestations, Multiple Aneurysms, and Carotid-Cavernous Fistula in Ehlers-Danlos Syndrome Type IV
Jay-Hyun Koh, MD;
Joo Sung Kim, MD;
Seung-Chyul Hong, MD, PhD;
Yeon Hyeon Choe, MD, PhD;
Young Soo Do, MD, PhD;
Hong Sik Byun, MD, PhD;
Won Ro Lee, MD, PhD;
Duk-Kyung Kim, MD, PhD
From the Departments of Medicine (J.-H.K., J.S.K., W.R.L., D.K.),
Neurosurgery (S.H.), and Radiology (Y.H.C., Y.S.D., H.S.B.), Samsung Medical
Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Correspondence to Duk-Kyung Kim, MD, PhD, Cardiovascular Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Ilwon-dong, Kangnam-Ku, Seoul 135-230, Korea. E-mail dkkim{at}smc.samsung.co.kr
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Introduction
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A21-year-old
woman presented with left ocular pain and severe
pulsatile
headache. She had suffered from easy bruisability
since she was young.
On physical examination, ecchymoses and
bruises were noticed on trauma
sites (Figure 1A
). The skin was
so thin
that subcutaneous blood vessels were visible (Figure
1B
). Huge
hematomas and ecchymoses occurred at the puncture
sites after
angiography (Figure 1C
). There was no significant
hyperelasticity
of the skin. Mild hypermobility of the joints in the
hands was
observed.
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Figure 1. A, Patient's arms showed ecchymoses and bruises
at needle puncture sites. B, Patient's skin over upper thorax showed
translucence with visible vessels (arrows). C, Severe ecchymoses and
hematomas occurred at puncture sites after transfemoral abdominal
aortogram despite adequate compression.
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Angiography showed a large carotid-cavernous fistula and an
aneurysm at the cervical portion of the left internal carotid
artery (Figure 2A). Abdominal aortography
disclosed a large ovoid aneurysm of the left renal artery with
delayed nephrogram (Figure 2B). The carotid-cavernous fistula
was successfully occluded by detachable balloons.
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Figure 2. A, Left internal carotid angiogram disclosed a
direct carotid-cavernous fistula (solid arrow) with drainage into
superior ophthalmic vein (arrowhead). There is a small aneurysm
at anterior wall of distal cervical internal carotid artery (open
arrow). B, Abdominal aortogram showed large aneurysm (arrow) of
left renal artery with delayed nephrogram.
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This case demonstrates characteristic clinical features of type IV
Ehlers-Danlos syndrome, an autosomal dominant disorder resulting from
mutations in the COL3A1 gene. The gene defects alter the
metabolism of type III collagen, a major constituent of the
walls of blood vessels.1 Type IV Ehlers-Danlos
syndrome is life-threatening because of its vascular manifestations,
which are characterized by rupture, dissection, or aneurysm
formation affecting large or medium-sized arteries.2
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Footnotes
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The editor of Images in Cardiovascular Medicine is Hugh A. McAllister,
Jr, MD, Chief, Department of Pathology, St Luke's Episcopal
Hospital and Texas Heart Institute, and Clinical Professor of
Pathology, University of Texas Medical School and Baylor College
of Medicine.
Circulation encourages readers to submit cardiovascular images to Dr Hugh A. McAllister, Jr, St Luke's Episcopal Hospital and Texas Heart Institute, 6720 Bertner Ave, MC1-267, Houston, TX 77030.
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References
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North KN, Whiteman DA, Pepin MG, Byers PH.
Cerebrovascular complications in Ehlers-Danlos syndrome type IV.
Ann Neurol. 1995;38:960–964.[Medline]
[Order article via Infotrieve]
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Witz M, Lehmann JM. Aneurysmal
arterial disease in a patient with Ehlers-Danlos syndrome:
case report and literature review. J Cardiovasc Surg
(Torino). 1997;38:161–163.[Medline]
[Order article via Infotrieve]
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Introduction
References