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A case of neonatal arterial thrombosis mimicking interrupted aortic arch.


Neonatal arterial thrombosis is a very rare entity with clinical findings resembling coarctation of aorta or interrupted aortic arch. A two day-old male newborn was admitted to a different hospital with difficulty in sucking and sleepiness. On echocardiographic examination, a diagnosis of interrupted aortic arch was made and he was treated with prostoglandin E2. When the patient presented to our center, physical examination revealed that his feet were bilaterally cold. The pulses were not palpable and there were ecchymotic regions in the lower extremities. Echocardiography ruled out interrupted aortic arch. Computerized tomographic angiography revealed a large thrombosis and total occlusion of the abdominal aorta. Since there was no response to treatment with tissue plasminogen activator, we performed thrombectomy. Homozygous Factor V Leiden and Methylenetetrahydrofolate reductase mutations were found in this patient. Neonatal aortic thrombosis which is observed very rarely and fatal should be considered in the differential diagnosis of coarctation of aorta and interrupted aortic arch. (Turk Pediatri Ars 2015; 50: 118-22)

Keywords: Aortic arch, fibrinolysis, thrombosis, newborn


Thrombosis in the descending aorta or abdominal aorta in the newborn is a very rare condition without an accompanying anatomical pathology. Its clinical findings are similar to coarctation of aorta (AC) or interrrupted aorta (IA) and it is manifested with findings of severe heart failure in the first hours and days of life.


A 2-day old male patient presented to a different hospital with complaints of difficulty in sucking and sleepiness. As a result of the tests and echocardiographic examination. The diagnosis of interrupted aortic arch type B was made and prostoglandin E2 (PGE2) was intiated at the age of seven days. He was referred to our clinic for further investigations and treatment. In the history, it was learned that the patient was born at the end of the 40th gestational week with a birth weight of 2350 g by cesarean section from the first pregnancy of a 31-year old mother. On physical examination, his general status was poor, respiratory sounds were normal, S1 and S2 were normal, cardiac sounds were rhythmical and the liver was palpable 3-4 cm in the midclavicular line. His feet were bilarally cold. Arterial pulses were not palpable in the lower extremities and ecchymotic areas were present in bilateral lower extremities (more diffusely in the left side). The blood pressure was found to be 86/64 mmHg. The laboratory tests were as follows: Hb: 11.6 X10 (3)/[micro]L, MCV: 102 fL, RDW: 18.1%, glucose: 72 mg/dL, BUN: 87 mg/dL, creatinine: 3.04 mg/dL, uric acid: 8.4 mg/dL, sodium: 147 mmol/L, potassium: 5.2 mmol/L, total protein: 5.36 g/dL, albumin: 3.15 gdL, ASR: 1039 U/L, ALT: 250 U/L, ALT: 68 U/L, C reactive protein: 7.4 mg/L, APTT: 44.5 s, PT: 40.4 s, INR: 4.05. 33% segemented neutrophils and 26 lymphocytes were observed on peripheral blood smear. Periton dialysis was initiated due to renal failure that was diagnozed with the abnormality in renal function tests and oliguria. Echocardiography (ECHO) revaled tricuspid failure (mild), patent ductus arteriosus and patent foramen ovale, but IA was not considered. Thrombosis in the abdominai aorta was observed on angiographic examination by computarized tomography (Figure 1). Tissue plasminogen activator (t-PA) was initiated by the intravenous route (Figure 2). Meanwhile, it was observed that necrosis developed starting from the left toes. On the next day, t-PA infusion was started through the sheath placed in the femoral artery. Meanwhile, infusion with heparin was continued at the times when t-PA infusion was discontinued. Aithough increased abdominal aortic flow was observed on abdominal Doppler ultrasonography (USG) in the left lower extremity circulation was impaired and thrombectomy was performed in the abdominal artery and iliac artery on the second day of t-PA infusion by way of the femoral artery (Figure 3). Heparin infusion was initiated after the procedure of thrombectomy. On the third day after the procedure, heparin infusion was discontinued and enooxaparin and aspirin treatments were started. Meanwhile, the tests ordered for differentitial diagnosis of thrombosis were as follows: Anti Factor X: 0.13 IU/mL (normal: 0.1-1.2), lupus anticoagulant: 53.5 s (normal: 20-60), Antithrombin III:68% (normal: 80-120), Protein S: 73% (normal: 60-140), Protein C: 18% (70-140), Homocystein: 19.41 umol/L (normal: 4.5-15). In addition, the patient was found to be homozygous mutant in terms of Factor V Leiden and Methylentetrahydrofolate recutase (MTHFR) C677T. There was no known familial history of thromboembolic disease or prenatal risk factor. After thrombectomy the peripheral pulses became palpable. Renal function tests improved and urinary output reached the normal level. The progression in circulatory impairment of the left lower extremity ceased. The color and warmth of the extremity became normal. On bilateral Doppler ultrasonography, it was observed that the flow in the left leg was better. In addition, complications related with t-PA treatment were observed in the follow-up. The protein C value measured 6 months later was found to be 85%. Enoxaparin treatment was discontinued three months later. The patient is still being followed up under aspirin treatment.



Thromboembolism in the newborn is a rare condition reported with a rate of 2.4/1000 in pediatric intensive care units or 5.1/100 000 births (1, 2). The factors which cause to arterial thrombosis in the neonatal period are examined in three main groups: 1) hereditary thrombophilia, 2) presence of prenatal risk factors (asphxia, diabetes in the mother, polystemia, sepsis, intravascular catheter applications), 3) syndromes with low cardiac output. Heterozygous carrier state of factor V Leiden mutation is the most common hereditary prothrombotic condition.



The main clinical characteristic of arterial thrombosis in the newborn are findings of severe heart failure in the first hours or days of life and symptoms suggesting AC or IA.

A diagnosis of IA was made in our patient as a result of the initial tests. When we screened the literature, we found 10 cases where AC or IA was considered initially, but a diagnosis of aortic thrombosis was made subsequently (Table 1) (3-11). In 9 of these 10 patients, the symptoms started in the first 48 hours of life as in our patient. The most common findings on physical examination include findings of heart failure, cyanosis, palor, coldness and absence of pulses in the legs.

The most common localizations of thrombosis include just above the aortic valve, ascending aorta, arcus aorta and left subclavian artery. In our patient, thrombosis was present in the abdominal aorta.

While antithrombin III, protein C and protein S deficiencies are the most common causes of thrombophilia, these factors were found to be normal in four patients (Table 1). Factor V Leiden gene mutation was found to be positive only in three patients including our patient, but MTHFR gene mutation was observed only in our patient (Table 1). In recent years, the association between thromboembolic events in the newborn and Factor V Leiden gene mutation has started to be observed with a gradually increasing rate. However, clinical findings develop only in 5% of the children in whom this mutation is positive and in 40% of the adults (12). Currently, it is predicted that 3-10% of the population are heterozygous in terms of this gene and 60-250/1000000 are homozygous (13). Another hereditary risk factor in terms of arterial thrombosis is MTHFR C677T mutation. The frequency of homozygous MTHFR C677T mutation has been found to be 10,6% in healthy children (14). In our patient, both Factor V Leiden and MTHFR C677T gene mutations were found in association.

The fact that the majority of the patients were male as our patient shown that sex-linked inheritance was efficient in development of arterial thrombosis in the newborn (Table 1). In addition, continuance of thrombosis despite intensive thrombolytic treatment suggested that prenatal factors might have been involved in development of thrombus. However, our patient had no prenatal risk factor. Wieland et al. (15) reported that there were no neonatal risk factors in two newborns who had thrombus in the arcus aorta in the case presentation they published in 2013 and both patients had heterozygous Factor V Leiden mutation.

Metsvaht et al. (3) reported that they found congenital obstructive thrombosis in the arcus aorta and ascending aorta on angiography in a one-day old patient who was investigated because of suspicious AC in 2006. Findings of cardiopulmonary failure started in the first 48 hours of life as in our patient, bilateral femoral pulses were inpalpable, renal functions tests and transaminase levels were increased and PEG2 infusion was initiated considering AC or IA with ECHO findings. In the same patient, heterozygous carrier state for Factor V Leiden mutation was found to be the only prothrombotic risk factor. In the same patient, MTHFR C677T gene mutation was not found in contrast to our patient.

The prognosis of arterial thrombosis in the newborn depends on the area involved, involvement of the other vessels and presence of neurological complications (6). When we examined the patients, we found that thrombosis was frequently localized above the aortic valve and left subclavian artery in patients who ended up with mortality (Table 1).

Surgical or medical treatment is preferred as the first-line therapy. In medical treatment, heparin or fibrinolytic agents are used. Knofler et al. (16) reported that fibrinolytic t-PA was efficient and safe when used at an appropriate dose in the treatment of thrombosis. Surgical treatment is performed successfully in organized and calcified partial arcus aorta thrombosis without harming the other vessels. Kawahira et al. (17) reported a patient who had trombus in the abdominal aorta and its branches and who underwent Fogart thrombectomy, but who was lost because of sepsis. In our patient, thrombolytic treatment was performed initially. Since the response was not sufficient, thrombectomy was performed subsequently.

We tried to emphasize that obstructive thrombotic events in the aorta should also be considered in addition to congenital sturctural abnormalities of the aorta including AC and IA in newborns presenting with findings of acute ischemia in the extremities.

Informed Consent: Written informed consent was not obtained due to retrospective nature of study.

Peer-review: Externally peer-reviewed.

Author Contributions: Concept - H.A.G., B.V.; Design - H.A.G.; Supervision - B.V.; Funding - M.O.; Materials - M.O., A.O.; Data Collection and/or Processing - A.O., M.O.; Analysis and/or Interpretation - H.A.G., B.V.; Literature Review - H.A.G.; Writer - H.A.G.; Critical Review - B.V.

Conflict of Interest: No conflict of interest was declared by the authors.

Financial Disclosure: The authors declared that this study has received no financial support.


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(2.) Nowak-Gottl U, von Kries R, Gobel U. Neonatal symptomatic thromboembolism in Germany: two year survey. Arch Dis Child Fetal Neonatal Ed 1997; 76: 163-7. [CrossRef]

(3.) Metsvaht T, Hermlin T, Kern H, Kahre T, Starkopf J. Aortic arch thrombosis in a neonate with heterozygous carrier status of Factor V Leiden Mutation. Congenit Heart Dis 2006; 1: 40-5. [CrossRef]

(4.) Trowitzsch E, Bernsau U, Luhmer I, Merkle W, Kallfelz HC. Congenital thrombotic occlusion of the ascending aorta and the aortic arch. Pediatr Cardiol 1985; 6: 165-9. [CrossRef]

(5.) Scott WA, Snider AR, Dick M 2nd, Heidelberger KP, Bove EL, Peschiera AW. Congenital aortic arch thrombosis diagnosed by echocardiography. Am J Cardiol 1987; 59: 485-6. [CrossRef]

(6.) Uva MS, Serraf A, Lacour-Gayet F, et al. Aortic arch thrombosis in the neonate. Ann Thorac Surg 1993; 55: 990-2. [CrossRef]

(7.) Evans DJ, Pizer BL, Moghal NE, Joffe HS. Neonatal aortic arch thrombosis. Arch Dis Child 1994; 71: 125-7. [CrossRef]

(8.) Baptista MJ, Vaz T, Barreira JL, Martins A, Moreira J. Acute aortic thrombosis in a newborn with congenital diaphragmatic hernia masquerading as coarctation of the aorta. Rev Port Cardiol 2002; 21: 351-3.

(9.) Amaral F, Peres LC, Granzotti JA, Almeida Filho OC, Monteiro C. Abdominal aortic thrombosis mimicking aortic coarctation in a newborn with heart failure. Arq Bras Cardiol 1997; 68: 451-2.

(10.) Guenthard J, Zumsteg U, Wyler F. Arm-leg pressure gradients on late follow-up after coarctation repair. Possible causes and implications. Eur Heart J 1996; 17: 1572-5. [CrossRef]

(11.) Kenny D, Tsai-Goodman B. Neonatal arterial thrombus mimicking congenital heart. Arch Dis Child Fetal Neonatal Ed 2007; 92: 59-61. [CrossRef]

(12.) Nowak-Gottl U, Koch HG, Aschka I, et al. Resistance to activated protein C (APCR) in children with venous or arterial thromboembolism. Br J Haematol 1996; 92: 992-8. [CrossRef]

(13.) Caliskan C, Yeniay L, Firat O, Korkut MA. Faktor 5 Leiden mutasyonuna bagli mezenter venoz tromboz olgusu [A case of mesenteric venous thrombosis due to mutation of factor V Leiden]. Ege J Med 2009; 48: 213-6.

(14.) Akar N, Akar E, Akcay R, Avcu F, Yalcin A, Cin S. Effect of methylenetetrahydrofolate reductase 677 C-T, 1298 A-C, and 1317 T-C on factor V 1691 mutation in Turkish deep vein thrombosis patients. Thromb Res 2000; 97: 163-7. [CrossRef]

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(16.) Knofler R, Dinger J, Kabus M, et al. Thrombolytic therapy in children--clinical experiences with recombinant tissue-plasminogen activator. Semin Thromb Hemost 2001; 27: 169-74. [CrossRef]

(17.) Kawahira Y, Kishimoto H, Lio M, et al. Spontaneous aortic thrombosis in a neonate with multiple thrombi in the main branches of the abdominal aorta. Cardiovasc Surg 1995; 3: 219-1. [CrossRef]

Hazim Alper Gursu (1), Birgul Varan (1), Ayla Oktay (1), Murat Ozkan (2)

Department of Pediatrics, Division of Pediatric Cardiology, Baskent University Faculty of Medicine, Ankara, Turkey

Department of Cardiovascular Surgery, Baskent University Faculty of Medicine, Ankara, Turkey

Address for Correspondence: Hazim Alper Gursu, Baskent Universitesi Tip Fakultesi, Cocuk Sagligi ve Hastaliklari Anabilim Dali, Cocuk Kardiyolojisi Bilim Dali, Ankara, Turkiye. E-mail:

Received: 17.02.2013 Accepted: 27.06.2013

[c]Copyright 2015 by Turkish Pediatric Association - Available online at
Table 1. Neonatal cases of arterial thombosis with a prediagnosis of AC
or IA

                   weight/                             The
                   gestational                         initial
                   week           Gender      Onset    diagnosis

Metsvaht T         3066 g/38        M         21       AC/IA
et al. 2006 (3)    w                          hours
Trowitzcsh et      4310 g/          M         1h>      IA
al. 1985 (4)       term
Scott 1987 (5)     2910 g/36        M         1h>      IA
Uva et al.         3340 g/40        M         5h       IA
1993 (6)           w
Uva et al. (6)     2170 g/term      M         48h      AC
Evans 1994 (7)     3420 g/term      M         24h      AC
Baptista MJ
et al. 2002 (8)                                        AC
Amaral F                                      NB       AC
1997 (9)
Guenthard J                                            AC
1997 (10)
Kenny D et         Term             M         96 h     AC
al. 2007 (11)
Gursu et al.       3350g/40w        M         48 h     IA

                   Initial                            Localization
                   clinical         Absence           of
                   finding          of pulses         thrombus

Metsvaht T         HF               Cyanosis, FA      AscA
et al. 2006 (3)
Trowitzcsh et      Cyanosis         All peripheral    Above the aortic
al. 1985 (4)                        pulses            valve and lef SA
Scott 1987 (5)     RDS, ht          All extremites
                                    and cortide       Above the aortic
                                    artery            valve and lef SA
Uva et al.         Cyanosis,        Left BA and       Above the aortic
1993 (6)           HF               bilateral FA      valve and lef SA
Uva et al. (6)     HF               Bilateral FA      Distal part of the
                                                      left BSA
Evans 1994         Palor in the     Left BA and       Above the aortic
(7)                legs             bilateral FA      valve and lef SA
Baptista MJ                                           AA
et al. 2002 (8)
Amaral F
1997 (9)
Guenthard J
1997 (10)
Kenny D et         Palor, coldness  Left FA           DA
al. 2007 (11)      in the legs
Gursu et al.       HF, coldness     Bilateral FA      AA
                   in the legs

                    test                 Treatment   Outcome

Metsvaht T          A TIII, PC, PS       S, H,t-PA   Exitus
et al. 2006 (3)     N, FVL mutation
Trowitzcsh et                            None        Exitus
al. 1985 (4)
Scott 1987 (5)
                    ATIII N              Surgery     Exitus

Uva et al.                               Surgery     Exitus
1993 (6)
Uva et al. (6)      ATIII, PC, PS N      Surgery     Normal
Evans 1994          ATIII, PC, PS N      S, H        Cystic
(7)                                                  encephalomalacia
Baptista MJ                                          Exitus
et al. 2002 (8)
Amaral F
1997 (9)
Guenthard J
1997 (10)
Kenny D et          ATIII low
al. 2007 (11)       FVL mutation         H, t-PA     Normal development
Gursu et al.        FVL and MTHFR        H, t-PA,    Left foot
                    mutation             surgery     amputation

AA: abdominal aorta; AC: aort coartation; ATIII: antithrombin III; BA:
brachial artery; BSA: brachiocephalic artery; AscA: ascending aorta; M:
male; FA: femoral artery; FVI: Factor V Leiden; w: weeks; H: heparin;
ht: hypotension; g: grams; IA: descending aorta; IA: interrupted aorta;
HF: heart failure; MTHFR: methylentetrahydrofolate reductase; N:
normal; PC: protein C; PS: protein S: S: streptokinase; SA: subclavian
artery; RDS: respiratory distress syndrome; tPA: tissu plasminogen
activator; NB: newborn
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Title Annotation:Case Report
Author:Gursu, Hazim Alper; Varan, Birgul; Oktay, Ayla; Ozkan, Murat
Publication:Turkish Pediatrics Archive
Article Type:Case study
Date:Jun 1, 2015
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