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Enormous right coronary arterial aneurysm in a patient with type IV Ehlers-Danlos syndrome
International Journal of Cardiology, 35 (1992) 259-261 0 1992 Elsevier Science Publishers B.V. All rights reserved
259 0167-5273/92/$05.00
CARD10 14311
Brief Reports
Enormous right coronary arterial aneurysm in a patient with type IV Ehlers-Danlos syndrome Ulrik Hedegaard
Eriksen, Niels Aage Aunsholt and Torsten Toftegaard Nielsen
Department of Cardiology, Skejby Uniuersity Hospital, Aarhus N, Denmark
(Received 29 October 1991; accepted 29 October 1991)
A patient with a giant aneurysm in the right coronary artery combined with dilated and tortuous left descending and circumflex arteries is described. The clinical features and implications are discussed. Key words: Ehlers-Danlos
syndrome; Cardiovascular
complication
Introduction
Ehlers-Danlos syndrome is a connective tissue disorder characterized by hyperextensibility of the joints, hyperelasticity and fragility of the skin, vascular fragility, subcutaneous nodules, ocular and visceral symptoms [I]. The diagnosis is suspected in a patient with a combination of clinical manifestations and family history, but it is confirmed only by culture of the patient’s skin fibroblasts and demonstration of a defect in type III collagen metabolism. Type IV seems to be more restricted to the cardiovascular system, the gastrointestinal tract and uterus and it is frequently associated with spontaneous catastrophic bleeding from major arteries [2]. We report an enormous right coronary arterial aneurysm, which was successfully operated, in a patient with Ehlers-Danlos syndrome type IV.
Physical examination revealed a moderately dyspnoeic woman with dilated veins of the neck extending to the forearms. Stethoscopy of heart revealed no murmurs. Lung fields were clear. The liver was enlarged and ascites as well as peripheral oedemas were seen. Good peripheral pulses were present in all four extremities. The patient’s skin was hyperextensible with no bruises. Moderate hypermobility of the joints was present. X-ray of the chest showed abnormal configuration of an ectatic heart measuring 18/30.5 cm. Especially the right atrium was dilated. Computerized tomography of the thorax suggested a large aneurysm measuring 13 x
Case Report
A 31-year-old female with a well-known Waardenburg syndrome was referred to our medical department for evaluation of long-standing severe fatigue, effort intolerance, breathlessness at rest, anorexia and cough.
Correspondence to: U.H. Eriksen M.D., Department of Cardiology, Skejby University Hospital, DK-8200 Aarhus N, Denmark.
Fig. 1. Computerized tomography of the heart showing the aneurysm, which was located in the right coronary artery.
260
Fig. 2. a. Aortography showing the filling of the aneurysm at the normal origin of the right coronary artery (15 degrees left
anterior oblique projection). b. Coronary arteriography with dilated and tortuous left descending and circumflex arteries.
7 x 8 cm of the pulmonary artery (Fig. 1). At echocardiography an aneurysm of the right pulmonary artery was likewise suspected. Coronary arteriography confirmed, however, an enormous aneurysmal dilatation of the right coronary artery (Fig. 2a). Abnormal dilatation without aneurysm was also demonstrated in the left coronary artery (Fig. 2b). Thoracal and abdominal aortography revealed no aneurysms but dilatation of the splenal artery. At operation confirmation of a 15-18 cm aneurysm of the right coronary artery was made. Immediate removal of the aneurysm resulted in serious haemostatic problems, which necessitated 70 bags of blood during the operation. The perioperative period was without any complications and the patient was discharged 9 days later. Histology documented a real arterial aneurysm. The patient had normal coagulation studies. Mitral prolapse was outruled at echocardiography.
Discussion
The true incidence of Ehlers-Danlos syndrome is unknown. However, the syndrome is accepted as being one of the most frequently inherited connective tissue disorders. The clinical features of type IV EhlersDanlos syndrome include slight hypermobility of the joints, especially in the fingers, minimal to absent hyperelasticity of the skin, thin or semitransparent skin with a prominence of the subcutaneous network and easy bruisability. Patients with type IV are frequently unaware of having this disorder until a catastrophic rupture of the bowel or an artery occurs 131.As to the vascular defects, spontaneous arterial rupture has been reported for the aorta, iliac, femoral, popliteal, subclavian-axillary, brachial-radial, carotid-vertebral and visceral vessels. Only two cases with involvement of the coronary arteries have been described, one with spontaneous
261
haemorrhage and one with aneurysmal dilatation and dissection [3]. A case with a 15 cm aneurysm of the right coronary artery which was diagnosed in life and operated with success has to our knowledge never been reported. The arterial tissues of patients with type IV are extremely friable. Sutures often tear out of the arterial wall and the standard vascular techniques may have to be modified. For the same reason arteriography in these patients is associated with a high complication rate. Arterial laceration can occur at the puncture site or at a remote site. Cikrit et al. report of 12 catheterizations with complications in 8 patients including 2 deaths. Therefore, arteriography should probably be avoided in these patients and noninvasive imaging with computerized tomography, nuclear magnetic resonance or venous digital subtraction angiography should be used rather than conventional arteriography as long as these methods are able to establish the correct diagnosis [3,4]. The prognosis in type IV Ehlers-Danlos syndrome is quite poor. The patients usually die in their second or third decade from severe bleeding or bowel perforation. If diagnosed in life the operative mortality is 19%
El.
Because type IV can be inherited both as an autosoma1 dominant or an autosomal recessive disorder genetic counselling may be relevant. In our rare case no other family member was afflicted and the patient’s illness was considered a new mutation after chromosoma1 investigation.
References
I Serry C, Agomuoh OS, Goldin MD. Review 2
3
4
5
of Ehlers Danlos syndrome. J Cardiovasc Surg 1988;29:530-534. Barabas AP. Vascular complications in the Ehlers-Danlos syndrome, with special reference to the arterial type or Sack’s syndrome. J Cardiovasc Surg 1972:12:160-167. Cikrit DF, Miles JH, Silver D. Spontaneous arterial perforation: the Ehlers-Danlos specter. J Vast Surg 1987;5:248255. Sheiner NM, Miller N, Lachance C. Arterial complications of Ehlers-Danlos syndrome. J Cardiovasc Surg 1985;26: 291-296. Krog M. Almgren B, Eriksson I et al. Vascular complications in the Ehlers-Danlos syndrome. Acta Chir Stand 1983;149:279-282.
259 0167-5273/92/$05.00
CARD10 14311
Brief Reports
Enormous right coronary arterial aneurysm in a patient with type IV Ehlers-Danlos syndrome Ulrik Hedegaard
Eriksen, Niels Aage Aunsholt and Torsten Toftegaard Nielsen
Department of Cardiology, Skejby Uniuersity Hospital, Aarhus N, Denmark
(Received 29 October 1991; accepted 29 October 1991)
A patient with a giant aneurysm in the right coronary artery combined with dilated and tortuous left descending and circumflex arteries is described. The clinical features and implications are discussed. Key words: Ehlers-Danlos
syndrome; Cardiovascular
complication
Introduction
Ehlers-Danlos syndrome is a connective tissue disorder characterized by hyperextensibility of the joints, hyperelasticity and fragility of the skin, vascular fragility, subcutaneous nodules, ocular and visceral symptoms [I]. The diagnosis is suspected in a patient with a combination of clinical manifestations and family history, but it is confirmed only by culture of the patient’s skin fibroblasts and demonstration of a defect in type III collagen metabolism. Type IV seems to be more restricted to the cardiovascular system, the gastrointestinal tract and uterus and it is frequently associated with spontaneous catastrophic bleeding from major arteries [2]. We report an enormous right coronary arterial aneurysm, which was successfully operated, in a patient with Ehlers-Danlos syndrome type IV.
Physical examination revealed a moderately dyspnoeic woman with dilated veins of the neck extending to the forearms. Stethoscopy of heart revealed no murmurs. Lung fields were clear. The liver was enlarged and ascites as well as peripheral oedemas were seen. Good peripheral pulses were present in all four extremities. The patient’s skin was hyperextensible with no bruises. Moderate hypermobility of the joints was present. X-ray of the chest showed abnormal configuration of an ectatic heart measuring 18/30.5 cm. Especially the right atrium was dilated. Computerized tomography of the thorax suggested a large aneurysm measuring 13 x
Case Report
A 31-year-old female with a well-known Waardenburg syndrome was referred to our medical department for evaluation of long-standing severe fatigue, effort intolerance, breathlessness at rest, anorexia and cough.
Correspondence to: U.H. Eriksen M.D., Department of Cardiology, Skejby University Hospital, DK-8200 Aarhus N, Denmark.
Fig. 1. Computerized tomography of the heart showing the aneurysm, which was located in the right coronary artery.
260
Fig. 2. a. Aortography showing the filling of the aneurysm at the normal origin of the right coronary artery (15 degrees left
anterior oblique projection). b. Coronary arteriography with dilated and tortuous left descending and circumflex arteries.
7 x 8 cm of the pulmonary artery (Fig. 1). At echocardiography an aneurysm of the right pulmonary artery was likewise suspected. Coronary arteriography confirmed, however, an enormous aneurysmal dilatation of the right coronary artery (Fig. 2a). Abnormal dilatation without aneurysm was also demonstrated in the left coronary artery (Fig. 2b). Thoracal and abdominal aortography revealed no aneurysms but dilatation of the splenal artery. At operation confirmation of a 15-18 cm aneurysm of the right coronary artery was made. Immediate removal of the aneurysm resulted in serious haemostatic problems, which necessitated 70 bags of blood during the operation. The perioperative period was without any complications and the patient was discharged 9 days later. Histology documented a real arterial aneurysm. The patient had normal coagulation studies. Mitral prolapse was outruled at echocardiography.
Discussion
The true incidence of Ehlers-Danlos syndrome is unknown. However, the syndrome is accepted as being one of the most frequently inherited connective tissue disorders. The clinical features of type IV EhlersDanlos syndrome include slight hypermobility of the joints, especially in the fingers, minimal to absent hyperelasticity of the skin, thin or semitransparent skin with a prominence of the subcutaneous network and easy bruisability. Patients with type IV are frequently unaware of having this disorder until a catastrophic rupture of the bowel or an artery occurs 131.As to the vascular defects, spontaneous arterial rupture has been reported for the aorta, iliac, femoral, popliteal, subclavian-axillary, brachial-radial, carotid-vertebral and visceral vessels. Only two cases with involvement of the coronary arteries have been described, one with spontaneous
261
haemorrhage and one with aneurysmal dilatation and dissection [3]. A case with a 15 cm aneurysm of the right coronary artery which was diagnosed in life and operated with success has to our knowledge never been reported. The arterial tissues of patients with type IV are extremely friable. Sutures often tear out of the arterial wall and the standard vascular techniques may have to be modified. For the same reason arteriography in these patients is associated with a high complication rate. Arterial laceration can occur at the puncture site or at a remote site. Cikrit et al. report of 12 catheterizations with complications in 8 patients including 2 deaths. Therefore, arteriography should probably be avoided in these patients and noninvasive imaging with computerized tomography, nuclear magnetic resonance or venous digital subtraction angiography should be used rather than conventional arteriography as long as these methods are able to establish the correct diagnosis [3,4]. The prognosis in type IV Ehlers-Danlos syndrome is quite poor. The patients usually die in their second or third decade from severe bleeding or bowel perforation. If diagnosed in life the operative mortality is 19%
El.
Because type IV can be inherited both as an autosoma1 dominant or an autosomal recessive disorder genetic counselling may be relevant. In our rare case no other family member was afflicted and the patient’s illness was considered a new mutation after chromosoma1 investigation.
References
I Serry C, Agomuoh OS, Goldin MD. Review 2
3
4
5
of Ehlers Danlos syndrome. J Cardiovasc Surg 1988;29:530-534. Barabas AP. Vascular complications in the Ehlers-Danlos syndrome, with special reference to the arterial type or Sack’s syndrome. J Cardiovasc Surg 1972:12:160-167. Cikrit DF, Miles JH, Silver D. Spontaneous arterial perforation: the Ehlers-Danlos specter. J Vast Surg 1987;5:248255. Sheiner NM, Miller N, Lachance C. Arterial complications of Ehlers-Danlos syndrome. J Cardiovasc Surg 1985;26: 291-296. Krog M. Almgren B, Eriksson I et al. Vascular complications in the Ehlers-Danlos syndrome. Acta Chir Stand 1983;149:279-282.