QJM Advance Access originally published online on February 20, 2006
QJM 2006 99(3):195-196; doi:10.1093/qjmed/hcl017
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Correspondence |
Myocardial infarction in a patient with normal coronary arteries and hereditary haemorrhagic telangiectasia
Sir,We read with interest the excellent paper by Gallitelli et al. on emergencies in hereditary haemorrhagic telangiectasia (HHT).1 HHT (or Osler-Weber-Rendu disease) is an uncommon autosomal dominant vascular disorder, related to an endoglin or activin-receptor-like kinase 1 (ALK1) gene mutation, resulting in multiorgan vascular dysplasia.2 HHT can lead to several life-threatening conditions, which are seen in more than a third of patients.1 However, acute cardiac complications of HHT are unusual. We report a case of myocardial infarction in a woman with normal coronary arteries and well-documented HHT.
A 57-year-old woman was admitted for acute coronary syndrome without ST elevation. Her history included mucocutaneous telangiectases (lips and oral cavity), several transitory ischaemic strokes related to cerebral arteriovenous malformations (AVM), and moderate hypertension. She had previously presented with two episodes of anteroseptal acute myocardial infarction (one with resuscitated cardiac arrest) under oral contraceptive therapy, with normal coronarography. She was treated with acetyl salicylic acid, ACE inhibitors, calcium channel inhibitors and substitutive hormonal treatment. Biological abnormalities included elevated serum troponin (170 x N), CPK (6 x N) and MB-CPK (8%; N < 5%). ECG showed negative T waves and non-significant Q waves in the inferior leads, decreased R waves in the septo-apical leads and flat T waves in the lateral leads. Admission coronarography and ventriculography showed normal coronary arteries, ejection fraction 
60% and apical aneurysm. Cardiac MRI showed two myocardial lesion territories with infero-lateral contraction abnormalities and gadolinium stagnation (Figure 1). This aspect was corroborated by transthoracic echocardiography (TTE). Other biological abnormalities included inherited thrombophilia: heterozygote factor V Leiden and methylenetetrahydrofolate reductase C677T polymorphism (MTHFR). After medical myocardial infarction treatment, folate supplementation and contraceptive therapy interruption, she made a good recovery, with no recurrence at 7 months follow-up.
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HHT is usually characterized by recurrent spontaneous epistaxis, mucocutaneous telangiectases (tongue, lips, face, and gastrointestinal tract) and hepatic, pulmonary and/or cerebral AVMs.3 Our patient had two of these major criteria of HHT classification. Rare cases with ischaemic manifestations have been previously reported, though not well-documented, and usually with coronary artery aneurysm.4 Our HHT patient had a well-documented myocardial infarction with normal coronary arteries, as shown by our biology data, ECG, TTE, coronarography and RMI results. The ischaemic myocardial lesions might result from our patient's inherited thrombophilia: factor V Leiden and MTHFR. In 2002, a case of recurrent ischaemic stroke was reported by Undas et al. in a patient with HHT and factor V Leiden antiphospholipid antibodies.5 However, this association between inherited thrombophilia and myocardial infarction remains the subject of debate.6 Rare cases of coronary artery aneurysms without stenosis have been previously reported.4,7,8 With angiographically normal arteries, we hypothesize that in our patient, HHT may be complicated by an endothelial dysfunction. This mechanism of endothelial dysfunction should be verified by an acetylcholine test.9 Nevertheless, in our opinion, inherited thrombophilia and oral contraceptive therapy have probably contributed to the myocardial ischaemic lesions in our patient.
Department of Cardiology
Department of Radiology
Department of Internal Medicine University Hospital of Strasbourg
email: emmanuel.andres{at}chru-strasbourg.fr
References
1. Gallitelli M, Pasculli G, Fiore T, Carella A, Sabba C. Emergencies in hereditary haemorrhagic telangiectasia. Q J Med 2006; 99:15–22.
2. Bayrak-Toydemir P, Mao R, Lewin S, McDonald J. Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians. Genet Med 2004; 6:175–91.[Web of Science][Medline]
3. Guttmacher AE, Marchuk DA, White RI. Hereditary hemorrhagic telangiectasia. N Engl J Med 1995; 14:918–24.
4. Hsi DH, Ryan GF, Hellems SO, Cheeran DC, Sheils LA. Large aneurysms of the ascending aorta and major coronary arteries in a patient with hereditary hemorrhagic telangiectasia. Mayo Clin Proc 2003; 78:774–6.
5. Undas A, Bazan-Socha S, Swadzba J, Musial J. Hereditary hemorrhagic telangiectasia, factor V Leiden and antiphospholipid syndrome: a case report. Blood Coagul Fibrinolysis 2002; 13:53–6.[Medline]
6. Dacosta A, Tardy-Poncet B, Isaaz K, Cerisier A, Mismetti P, Simitsidis S, et al. Prevalence of factor V Leiden (APCR) and other inherited thrombophilias in young patients with myocardial infarction and normal coronary arteries. Heart 1998; 80:338–40.
7. Kurnik PB and Heymann WR. Coronary artery ectasia associated with hereditary hemorrhagic telangiectasia. Arch Intern Med 1989; 149:2357–9.
8. Tsuiki K, Tamada Y, Yasui S. Coronary artery aneurysm without stenosis in association with Osler-Weber-Rendu disease—a case report. Angiology 1991; 42:55–8.
9. Bugiardini R and Bairey Merz CN. Angina with ‘normal’ coronary arteries: a changing philosophy. JAMA 2005; 293:477–84.
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