CARDIOVASCULAR JOURNAL OF AFRICA • Vol 23, No 3, April 2012
e6
AFRICA
Multiple gene polymorphisms predisposing to the
prothrombotic state in an adolescent with acute
myocardial infarction
A DOĞAN, A ICLI, E VAROL, D ERDOGAN
Abstract
Acute myocardial infarction with ST-segment elevation
(STEMI) is rare in adolescents and its pathogenesis is
unclear. Growing evidence shows an association between the
prothrombotic state and acute STEMI. Prothrombotic genet-
ic factors may be involved in the pathogenesis of STEMI.
We present a case of an adolescent with acute STEMI who
had multiple prothrombotic gene polymorphisms: in the
beta fibrinogen, methylenetetrahydrofolate reductase and
cholesteryl ester transfer protein genes, as well as genotypes
in plasminogen activator inhibitor-1 and human platelet anti-
gen type-1. He had normal coronary arteries with catheter-
induced spasm and was treated with a calcium antagonist
and aspirin.
Keywords:
myocardial infarction, adolescent, gene polymor-
phisms, prothrombotic state
Submitted 6/5/11, accepted 31/5/11
Cardiovasc J Afr
2012;
23
: e6–e8
DOI: 10.5830/CVJA-2011-025
Acute ST-segment elevation myocardial infarction (STEMI)
rarely occurs in adolescents. Its pathogenesis remains largely
unknown.
1
Growing evidence shows that there is considerable
relationship between the prothrombotic state and/or thrombophilia
and acute STEMI.
2,3
There was also a synergistic effect reported
between prothrombotic polymorphisms and traditional risk
factors for atherosclerosis.
4
There is evidence that beta fibrinogen,
5,6
methylene-
tetrahydrofolate reductase (MTHFR),
4,7-9
cholesteryl ester transfer
protein (CETP),
10
plasminogen activator inhibitor-1 (PAI-1),
3,9,11
and human platelet antigen type-1 (HPA1)
12
gene mutations may
be associated with early-onset STEMI and other cardiovascular
events. In this case report, we presented an adolescent with acute
STEMI who had multiple gene polymorphisms, most likely
predisposing to the prothrombotic state.
Case report
A 15-year-old boy presented with about 16 hours of oppressive
chest pain in association with sweating and nausea. He had no
known disease, and did not use any therapeutic or recreational
drugs. However, he smoked cigarettes intermittently. There was
no history of vascular thromboembolic events in his first-degree
relatives.
His blood pressure was 120/80 mmHg and heart rate 84
beats/minute. The examination of cardiac and other systems
was normal. An electrocardiogram (ECG) showed a 2-mm
ST-segment elevation in leads II, III-aVF
and V5-6, and
ST-segment depression in leads aVL and V1-3 (Fig. 1A).
Cardiac bio-markers were elevated; troponin T was 1.3 ng/ml
(normal value
<
0.01 ng/ml) and mass creatine phosphokinase
MB (CK-MB) was 57 ng/ml (normal limits: 0.0–4.9 ng/ml).
Other routine haematological and biochemical tests were normal.
Echocardiograhy revealed an ejection fraction of 60% and mild
hypokinesia in the mid- and apical segments of the inferior walls
of the left ventricle.
He was thought to have acute infero-posterolateral STEMI
and given clopidogrel (300 mg), aspirin (300 mg), unfractioned
heparin (60 U/kg intravenous bolus, followed by 12 U/h) and oral
nitrate. When he was admitted to the coronary care unit, his chest
pain was markedly reduced and the ST-segment elevation was
resolved. Spontaneous recanalisation was assumed.
At the follow-up, his ECG had returned to normal (Fig. 1B)
and chest pains did not recur. After 24 hours of hospitalisation,
coronary angiography showed a normal right coronary artery
with slow blood flow in association with catheter-induced spasm.
The spasm was resolved after 200 µg intracoronary nitroglycerin
(Fig. 2A). The left anterior descending artery was normal in
appearance with stasis and a slow-flow phenomenon in its
proximal segment (Fig. 2B). The left circumflex artery was also
normal.
Thrombotic and genetic tests were performed to identify the
aetiology of the STEMI. The activities of protein C, protein S,
antithrombin and activated protein C were within normal limits.
Serum homocysteine and compliment C
3
were also normal.
Rheumatological tests, antiphospholipid and anticardiolipin
antibodies were negative as well factor V Leiden mutation.
Genetic analyses showed heterozygous polymorphisms of
beta fibrinogen (455G
>
A), MTHFR (C677T and A1298C)
and CETP (TaqI
β
). In addition, PAI-1 4G/4G and HPA1 a/a
genotypes were recognised.
It was recommended he receive a calcium antagonist
Department of Cardiology, Medical School, Suleyman
Demirel University, Isparta, Turkey
A DOĞAN, MD,
A ICLI, MD
E VAROL, MD
D ERDOGAN, MD
Case Report
