PEDIATRICS Vol. 107 No. 2 February 2001, pp. 421-422

EXPERIENCE AND REASON:
Thrombus in the Left Ventricle of a Child With Systemic Emboli: An Unusual Presentation of Hereditary Protein C Deficiency

	ABSTRACT

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We present a case of left ventricular thrombus in a child with a normal functioning left ventricle. The diagnosis was made by 2-dimensional echocardiography after 2 episodes of systemic emboli.

Hereditary protein C deficiency diagnosed in the patient provides the probable pathogenesis of the thrombus formation.

Systemic emboli necessitates cardiac examination, and in cases of unusual thrombi, hereditary or acquired thrombophilic risk factors should be considered.

Thrombi in the left ventricle (LV) have been described in cases of global LV dysfunction (dilated cardiomyopathy), local dysfunction (myocardial aneurysm or infarction), or secondary to endocardial damage (as in surgery or hypereosinophilic syndrome). It has also been described with thrombophilic risk factors.

We present a case of LV thrombus that was the first presenting symptom of hereditary protein C deficiency.

	CASE REPORT

A 2-year-old, previously healthy girl was hospitalized in 1992 because of pneumonia. She was treated with ceftriaxone and discharged after 4 days without fever. Two days later she returned with pain and difficulty in moving her left hand. Physical examination revealed signs of left brachial artery obstruction. At first it was assumed that it was a local thrombosis resulting from an intravenous line that had been installed close to the brachial artery. Streptokinase infusion was initiated, but a few hours later central facial nerve palsy and severe speech disability developed.

An echocardiogram revealed a 1-cm mass in the apex of the LV, moving almost freely in the ventricle (Fig 1). The mass was attached to the ventricular wall by a very thin pedicle. LV size and function were normal. There was only minimal mitral regurgitation. Repeated blood cultures were negative.

View larger version (88K): [in this window] [in a new window]   Fig. 1.   Echocardiogram showing a mass in the apex of the LV.

The patient underwent cardiac surgery and the mass was removed through the left atrium. The mass was found to be a thrombus. No bacteria were seen or grown.

In the postoperative period the patient developed postpericardiotomy syndrome with a large amount of fluid that needed pericardiocentesis. The fluid was sterile. The patient recovered over a 2-week period with no evidence of neurologic or cardiac sequelae.

Examination of thrombophilic factors revealed low levels of protein C soon after presentation, and these levels remained low when tested 6 months later. Protein S and antithrombin III were normal. Lupus anticoagulant was negative and activated partial thromboplastin time was normal. Methylenetetrahydrofolate reductase and Factor V Leiden tested recently were normal. Anticardiolipin antibodies were not tested at the time of illness, but there have been no symptoms of antiphospholipid syndrome or any other autoimmune disease since that time. Further analyses of the family revealed that the patient's brother had low levels of protein C and the mother had borderline levels (Table 1). Diagnosis of heterozygous hereditary protein C deficiency was made. The patient was placed on warfarin after short heparinization, and her international normalized ratio was kept between 1.5 and 2. The child has been followed now for 7 years after the initial event with no hemorrhage or thrombosis and with complete neurologic recovery.

	DISCUSSION

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LV thrombosis is known to occur in children with LV dysfunction like cardiomyopathy,¹ supraventricular tachycardia,² after cardiac surgery,³ and in hypereosinophilic syndrome.⁴ More rarely, thrombi in the LV in childhood have been reported in systemic lupus erythematosus, in the presence of antiphospholipid antibodies^5,6 and in Behcet's disease.⁷

Protein C is synthesized in the liver and is vitamin K-dependent. Protein C deficiency can be acquired (liver dysfunction or vitamin K deficiency) or hereditary (homozygous and heterozygous). Homozygous deficiency of protein C, a rare condition associated with neonatal purpura fulminans and disseminated intravascular coagulopathy, is usually fatal if not treated.^8,9 Heterozygous protein C deficiency is relatively common, affecting 1 in 200 to 300 individuals, and is usually associated with venous thrombosis.^8,10

Two unusual cases of LV thrombi (arterial thrombosis) were reported in the past^11,12 with acquired (secondary) protein C deficiency attributable to sepsis, in conjunction with heart failure and impaired liver function. In our case there was no evidence of sepsis or heart or liver dysfunction.

To the best of our knowledge, this is the first case in the literature in which LV thrombus is associated with hereditary protein C deficiency.

Abraham Matitiau, MD^*
Elvan Tabachnik, MD
Dalia Sthoeger, MD
Department of ^* Pediatric Cardiology,  Pediatric Intensive Care Unit, and ^§ Pediatric Hematology
Kaplan Hospital
Rehovot, Israel 76100

Einat Birk, MD
Department of Cardiology
Schneider Chidren's Medical Center
Petach Tikva, Israel 49202

	FOOTNOTES

Received for publication Feb 25, 2000; accepted Jun 20, 2000.

Address correspondence to Abraham Matitiau, MD, 111 Hagefen St, Asseret, Israel 76858. E-mail: mati135{at}netvision.net.il

	ABBREVIATIONS

LV, left ventricle/ventricular.

	REFERENCES

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