Favourable pregnancy outcome in a pregnant woman with partial hypoplasia of inferior vena cava and homozygous for methylenetetrahydrofolate reductase mutation

Article (PDF Available)inEuropean journal of obstetrics, gynecology, and reproductive biology 153(1):108-9 · November 2010with47 Reads
DOI: 10.1016/j.ejogrb.2010.06.013 · Source: PubMed
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Favourable pregnancy outcome in a pregnant woman with
partial hypoplasia of inferior vena cava and homozygous for
methylenetetrahydrofolate reductase mutation
Dear Editor,
A 23-year-oldpregnant woman at 7 weeks of gestation, gravida 1,
para 0, was referred to our outpatient clinic for antenatal care. On a
routine ultrasound examination, a multicystic mass was shown in
the right iliac fossa. After color Doppler flow study and magnetic
resonance imaging, hypoplasia of the intrahepatic portion of the
inferior vena cava (IVC) and aplasia of its infrarenal segment were
revealed with a collateral dilated vein network in the pelvis and a
large right paravertebral venous plexus ascending into the azygous
system (Fig. 1). In addition, the right kidney and renal vein were
hypoplastic. The left kidney showed compensatory hypertrophy.
There was no personal or familyhistory of thromboembolism, pelvic
surgery or oral contraceptive use. Her physical examination showed
chronic venous insufficiency with the presence of varicose veins of
both lower extremities painless to pressure. Additional coagulation
and thrombophilia examinations showed a homozygous mutation
of C677T MTHFR with normal fasting homocysteine levels.
Because of these risk factors, a vascular surgeon and a
hematologistwere consulted in terms of multidisciplinary antenatal
care of this high-risk pregnancy. Prophylactic oral intake of 75 mg
aspirin and folic acid 5 mg supplementation was administered for
thromboembolism prevention until 36 weeks of gestation. After-
wards, due to deterioration of varicosities, aspirin was replaced by
subcutaneous low-molecular-weight heparin (LMWH) injection
(enoxoparin 4000anti-xa iu, daily) until delivery. In addition, the
patient was advised to avoid prolonged immobilization and oral
contraceptive use after delivery, as well as lifetime use of elastic
stockings support for prevention of thromboembolism.
Her antenatal course was uneventful and a controlled labour
induction under epidural anaesthesia was organized at 38 weeks of
gestation. The LMWH was discontinued 24 h before initiation of
labour induction. In order to shorten the second stage of labor,
assisted vacuum vaginal delivery was performed to decrease the
valsava maneuver and reduce the risk of spontaneous rupture of
venous plexi. Finally, she delivered a healthy male, without any
postpartum complication.
Among the broad spectrum of IVC congenital anomalies,
complete or partial absence of its intrahepatic, suprarenal, renal
or infrarenal segment is an extremely rare entity. Its incidence
varies from 0.00005% to 1% in the general population [1]. It is
usually asymptomatic and is diagnosed incidentally during
adulthood or after occurrence of thromboembolic events (5%)
[1]. In cases of right iliac fossa pain due to thrombosed collateral
veins the differential diagnosis with appendicitis and ileitis in
Crohn’s disease is also feasible with Doppler ultrasound. On the
contrary, the co-existence of cardiac defects, or abnormal function
of the spleen necessitating antipneumococcal vaccination may
lead to prompt diagnosis of this condition in early life [2].
Thrombophilia screening is also indicated in asymptomatic cases
of IVC dysgenesis, because of described coincidence with inherited
or acquired thrombophilic defects [3]. Review of limited case
reports with similar abnormalities indicates that the first occurring
symptom seems to be an acute thrombotic event [4].
It is worth mentioning that ultrasonograpy and duplex scan
studies might miss the diagnosis of IVC abnormalities. Despite the
high cost, MRI venography is the procedure of choice for depiction
of IVC anatomic abnormalities in detail [5]. Due to the limited
number of published cases, there are no data about preventive
management of asymptomatic IVC malformations, neither in the
general population nor in the pregnant women. Thromboprophy-
laxis with aspirin, or better with LMWH which is probably more
efficacious, is justified in cases with low risk of thromboembolic
events during pregnancy. It seems that a multidisciplinary
approach, close antenatal care and assisted vacuum delivery
may lead to a favourable pregnancy outcome. In addition,
postpartum thromboprophylaxis with LMWH for 6 weeks is also
indicated in such cases with a high risk of thrombosis.
[1] Gil RJ, Perez AM, Arias JB, Pascual FB, Romero ES. Agenesis of the inferior vena
cava associated with lower extremities and pelvic venous thrombosis. J Vasc
Surg 2006;44:1114–6.
[2] Bronsthtein M, Khatib N, Blumenfeld Z. Prenatal diagnosis and outcome of
isolated interrupted inferior vena cava. Am J Obstet Gynecol 2010;202:398.
[3] Bakhshi T, Glaser AM, Mastrobattista JM. Pelvic varicosities and inferior vena
cava. Obstet Gynecol 2007;110:495–7.
European Journal of Obstetrics & Gynecology and Reproductive Biology 153 (2010) 108–113
Fig. 1. Coronal MR image shows absence of the infrarenal portion of the IVC down to
the level of the common iliac veins (black arrow).
Contents lists available at ScienceDirect
European Journal of Obstetrics & Gynecology and
Reproductive Biology
journal homepage: www.elsevier.com/locate/ejogrb
0301-2115/$ – see front matter !2010 Elsevier Ireland Ltd. All rights reserved.
[4] Balzer KM, Pillny M, Luther B, Grabitz K, Sandmann W. Spontaneous rapture of
collateral venous aneurism in a patient with agenesis of the inferior vena cava: a
case report. J Vasc Surg 2002;36:1053–7.
[5] Kandpal H, Sharma R, Gamangatti S, Srivastava DN, Vashisht S. Imaging the
inferior vena cava: a road less traveled. Radiographics 2008;28 (May–June):
669–89. Review.
Helen Bili*
Dimitris Tsolakidis
Grigorios Grimbizis
Basil C. Tarlatzis
First Department of Obstetrics and Gynecology,
Aristotle University of Thessaloniki,
Thessaloniki, Greece
Helen Drista
Department of Vascular Surgery,
‘‘Kyanos Stavros’’, Private Hospital,
Thessaloniki, Greece
*Corresponding author. Tel.: +30 2310 261196/693131;
fax: +30 2310 262286
E-mail address: helbil@auth.gr (H. Bili)
13 February 2010
Shoulder pain and diaphragmatic endometriosis
Dear Editor,
We present an interesting case of a woman with longstanding
cyclical chronic shoulder pain which was investigated over many
years until finally a diagnosis of diaphragmatic endometriosis was
A 28-year-old healthy, nulliparous woman attended her
gynaecologist following a referral from an orthopaedic surgeon.
She had been su ffering from chron ic right sided should er pain over
several years and had undergone multiple investigations of her
right shoulder including one ultrasound scan, three magnetic
resonance imaging (MRI) scans and one cervical X-ray, all of which
were normal. The patient felt that her shoulder pain was cyclical
in nature and relieved by the combined oral contraceptive pill
(COCP) which she had commenced 5 months prior to her
gynaecological consultation. She did not complain of pelvic pain,
dysmenorrhoea or dyspareunia. A presumed diagnosis of endo-
metriosis was made and the patient continued medical manage-
ment with the COCP as she was not planning a pregnancy at that
stage. Two ye ars later she attende d her gynaecologist ag ain due to
concern over subfertility of 10 months’ duration. The shoulder
pain had returned after she discontinued the COCP but pregnancy
had not occurred. Her periods were regular and all relevant
investigations for infertility were normal. She finally underwent a
diagnostic laparoscopy and dye test which revealed significant
pelvic endometriosis (Fig. 1, Image 1) and right sided subdiaph-
ragmatic endometriosis (Fig. 1, Images 2 and 3). Her pelvic and
abdominal organs appeared healthy, her Fallopian tubes were
patent and pelvic endometriosis was treated with diathermy. Two
of three subdiaphragmatic spots were accessible for treatment
with diathermy. Unfortunately her symptoms have not improved
and she is still trying to conceive.
This case highlights the importance of considering endome-
triosis as a differential diagnosis for cyclical chronic shoulder
pain. Endometriosis affects up to 15% of women and symptoms
are often disproportionate to the disease extent. Five percent
of endometriotic lesions are located extragenitally and the
aetiology is controversial [1]. Diaphragmatic disease is a rare
manifestation of endometriosis. Radiological imaging, as in this
case, is of limited value and the diagnosis is often made at
laparoscopy, when pelvic disease is found. Some reports suggest
that endometriotic lesions can be visualised on MRI [2].
Diaphragmatic endometriosis is most commonly located asym-
metrically on the right leaf of the diaphragm [3] which supports
the theory of retrograde menstruation. Diathermy of lesions or
hormonal suppression are recommended for treating dissemi-
nated endometriosis. This case demonstrates that endometriosis
is a great mimicker and that prompt diagnosis requires
interdisciplinary medical knowledge. A combination of cyclical
shoulder pain and infertility should alert clinicians to the
possibility of the presence of endometriosis.
Fig. 1. Image 1: Significant pelvic endometriosis (right ovary). Images 2 and 3:
Subdiaphragmatic endometriotic lesions (right sided).
Letters to the Editor / European Journal of Obstetrics & Gynecology and Reproductive Biology 153 (2010) 108–113