Myocardial infarction resulting from coronary artery dissection in an adolescent with Ehlers-Danlos syndrome type IV due to a type III collagen mutation.

Ehlers-Danlos syndrome encompasses a group of inherited disorders of connective tissue, some of which are characterised by abnormalities of collagen metabolism. The chromosomal location, identified genes and biochemical defects, inheritance pattern, and clinical features for the various known subtypes are outlined. Prenatal diagnosis is possible for types IV, VI, VIIA1, and VIIA2. An unusual presentation of type IV Ehlers-Danlos syndrome in a 16 year old boy with an anterior myocardial infarction resulting from dissection of the left anterior descending coronary artery is reported here. A clinical diagnosis of type IV Ehlers-Danlos syndrome was made subsequently and confirmed by the reduced production, impaired secretion, and abnormally slow electrophoretic migration of type III collagen, indicating an underlying mutation in the COL3A1 gene. This patient represents the first case of type IV Ehlers-Danlos syndrome with symptomatic coronary artery dissection.     

Successful Coronary Artery Bypass in Ehlers-Danlos Type IV Syndrome Case Report and Review of the Literature

Atherosclerotic coronary artery occlusive disease is very rare in cases of Ehlers-Danlos type IV syndrome. We report what we believe is a unique case of successful coronary artery bypass grafting for atherosclerotic coronary artery disease in a patient with this syndrome and examine the possible implications for the natural progression of the disease through a review of the literature. Nevertheless, we reiterate previous investigators'' advice that any invasive procedure on these patients should be approached with extreme caution and that surgery should be performed as a last resort, considering the significantly elevated risks.Key words: Adult, atherosclerosis, coronary artery surgery, coronary artery disease, Ehlers-Danlos syndrome/classification/genetics/surgery, genetic predisposition to disease, male, vascular diseases/etiologyAtherosclerotic coronary artery occlusive disease is very rare in cases of Ehlers-Danlos type IV syndrome. We report what we believe is a unique case of successful coronary artery bypass grafting (CABG) for atherosclerotic coronary artery disease in an Ehlers-Danlos IV patient and examine the possible implications for the natural progression of Ehlers-Danlos IV—also called vascular Ehlers-Danlos syndrome (v-EDS)—through a review of the literature.     

Ehlers-Danlos syndrome with megaduodenum and malabsorption syndrome secondary to bacterial overgrowth. A report of the first case

A 63 year old woman with Ehlers-Danlos syndrome and a malabsorption syndrome secondary to bacterial overgrowth in a megaduodenum is described. To our knowledge this is the first report of either a megaduodenum or a malabsorption state in association with the Ehlers-Danlos syndrome.     

Ehlers-Danlos syndrome with abnormal collagen fibrils,sinus of Valsalva aneurysms,myocardial infarction,panacinar emphysema and cerebral heterotopias

A 30 year old woman with marked joint hypermobility had severe, progressive lung disease, seizures, aneurysms of the sinuses of Valsalva and myocardial infarction documented during life. She died of intractable ventricular fibrillation, and postmortem examination showed myocardial injury in the distribution of the left coronary artery but no occlusive coronary artery disease. Severe panacinar emphysema was found in the lungs. Cerebral heterotopias with peculiar vascularization were present and were a likely cause of the seizure disorder. Electron microscopy showed dermal collagen fibrils to be heterogeneous in size, reduced in number, and irregular and frayed in appearance. This patient had a form of the Ehlers-Danlos syndrome, different from the 10 distinct variants described thus far, associated with lethal internal manifestations.     

Coronary arteriomegaly in a patient with Ehlers-Danlos syndrome and multiple aneurysms--a case report

The authors report a case of coronary arteriomegaly in a patient with Ehlers-Danlos syndrome and multiple aneurysms who presented with myocardial infarction. Coronary arteriography revealed distal "pruning" of vessels without occlusive disease. Fibroblast cultures excluded Ehlers-Danlos syndrome types IV and VII. Literature review suggests this may represent a previously unidentified vascular syndrome.     

Young woman affected by a rare form of familial connective tissue disorder associated with multiple arterial pulmonary stenosis and severe pulmonary hypertension.

A woman with skin findings of a connective tissue disorder, typical of Ehlers-Danlos syndrome, was admitted to the Cardiology Division because of signs of congestive heart failure. Electrocardiogram showed sinus tachycardia, signs of right ventricular enlargement and hypertrophy. Echocardiogram showed right ventricular dilatation, and severe tricuspid regurgitation with indirect signs of severe pulmonary systolic hypertension. Chest computed tomography revealed bilateral and diffuse involvement of the peripheral pulmonary arteries, with kinking and elongation of the pulmonary vessels associated with multiple stenoses and post-stenotic dilatation. On artery angiography an elongation of the aortic root with kinking and coiling of the carotid and vertebral vessels was also detected. This young patient exhibited features of arterial tortuosity syndrome, an uncommon connective tissue disorder, with peculiar dysmorphism and clinical signs overlapping Ehlers-Danlos syndrome.     

主动脉腔内修复术治疗75例DeBakey Ⅲ型主动脉夹层

目的 总结主动脉腔内修复术(EVAR)治疗DeBakey Ⅲ型主动脉夹层适应证的选择、临床疗效以及探讨并发症的防治原则.方法 2002年12月至2007年6月采用TALENT带膜支架施行EVAR治疗75例DeBakeyⅢ型主动脉夹层患者,男65例,女10例,平均年龄54.4±12.6(29～83)岁.1例29岁女性病因考虑为埃-当综合征,2例年青男性分别继发于原发性醛固酮增多症和外伤车祸.全部患者均经螺旋CT或磁共振血管造影检查确诊.全身麻醉下经股动脉置入带膜血管内支架,封堵原发破口,重复造影检查.结果 75例患者共置入81枚带膜支架.其中2例因近端破口接近左锁骨下动脉,先行颈总动脉-锁骨下动脉旁路移植术,再置入支架,支架近段覆盖左锁骨下动脉.25例支架置入后出现明显内漏,20例予球囊扩张,6例置入1枚短支架后内漏消失.支架置入技术成功率为100％.1例埃-当综合征女性患者术中出现股动脉、髂外动脉、髂总动脉广泛血管撕裂,失血性休克,经抢救好转恢复.2例术后早期死于夹层破裂.术后随访1～24个月,2例(包括1例埃-当综合征患者)术后半年发生猝死,1例术后1年复查CT发现支架远端出现破口,经外科手术治疗后恢复良好;其余存活者复查螺旋CT示假腔径缩小并见腔内血栓形成,真腔径增大,无瘤体破裂、内漏及支架移位等并发症发生.结论 EVAR治疗DeBakeyⅢ型主动脉夹层具有技术可靠、创伤小、术后恢复快、成功率高等优点,尤其适用于不能耐受传统开胸手术的老年高危患者.而对于年轻的主动脉夹层患者要注意排除埃-当综合征等遗传性疾病,用EVAR治疗埃-当综合征的血管并发症,目前尚未见报道,其手术并发症及疗效有待进一步观察.     

Coronary artery vein grafting in a case of Ehlers-Danlos syndrome

A 64 year old man with Ehlers-Danlos syndrome type 2 was admitted to hospital with severe angina of effort. Aortocoronary vein grafting was performed successfully.     

Coronary artery vein grafting in a case of Ehlers-Danlos syndrome.

A 64 year old man with Ehlers-Danlos syndrome type 2 was admitted to hospital with severe angina of effort. Aortocoronary vein grafting was performed successfully.     

Herniation of mitral leaflets in the Ehlers-Danlos syndrome.

A 47 year old patient with the Ehlers-Danlos syndrome (hypermobility of the joints, hyperextensibility of the skin and atrophic cutaneous scars) was evaluated because of a mitral regurgitant murmur and paroxysmal atrial tachycardia. Angiocardiography and echocardiography demonstrated marked systolic herniation of the posterior leaflets of the mitral valve. An echocardiogram from the patient's daughter, who also had paroxysmal atrial tachycardia, revealed the same abnormality. Although a "floppy" valve is common in Marfan's syndrome, this report emphasizes that it may also occur in patients with other heritable disorders of connective tissue.     

Dysmorphic syndrome and vascular dysplasia: an atypical form of type IV Ehlers-Danlos syndrome

A 29 year old woman was hospitalized for the successive onset of extremely serious vascular accidents: rupture of the gastro-duodenal artery, aneurysm of the posterior tibial artery, discovery of bilateral carotid and vertebral aneurysm with development of a carotid-cavernous fistula. The patient had a very unusual morphotype with dwarfism, white hair and alopecia. Histological investigations failed to reveal atheromatous lesions and by contrast showed involvement of the skin (dermal atrophy) and in the blood vessels fibro-dysplasia of the media. This picture was suggestive of a vascular form of Ehlers-Danlos disease (Sack's syndrome or type IV Ehlers-Danlos disease). This syndrome is characterized by minor skin or joint manifestations replaced by arterial accidents (arterial rupture or development of aneurysms). The etiology is faulty maturation of procollagen III and the diagnosis is based upon fibroblast culture.     

Coronary Artery Dilatation in LEOPARD Syndrome. A Child Case and Literature Review

LEOPARD syndrome (LS) is a rare inherited disease with multiple somatic abnormalities. LS and Noonan syndrome (NS) share many features, including cardiovascular disorders, and PTPN11 gene mutation is commonly reported in both syndromes. We report a 10‐year‐old male patient who was diagnosed as LS based on typical phenotypes including multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism and deafness. Although the most prevalent cardiovascular abnormalities in LS are pulmonary stenosis and hypertrophic cardiomyopathy, diffuse bilateral dilatation of the coronary arteries was found on angiography in addition to apical hypertrophic cardiomyopathy in the present case. The vessels showed slight increases in diameter on angiography conducted at an interval of 6 years. A literature review identified several case reports describing coronary ectasia in patients with NS as well as LS. Considering both syndromes share the mutation of PTPN11 gene, coronary arterial involvement could be related to the gene aberration and should be screened even if the patient shows no symptoms of ischemic heart disease.     

Kounis Syndrome or Allergic Coronary Vasospasm in a Two‐year‐old

Kounis syndrome is coronary vasospasm because of mast cell degranulation in the context of an allergic reaction. The syndrome has known associations with several drugs used during anesthesia, including rocuronium and isoflurane. In this case report, we discuss a 2‐year‐old patient who developed signs and symptoms of an acute coronary syndrome soon after anesthesia for atrial septal defect repair. A diagnostic angiography after the episode revealed diffusely small coronary arteries. Subsequent angiography after clinical improvement showed essentially normal coronary anatomy. We report the clinical course of this patient and postulate that Kounis syndrome was the explanation for his transient coronary vasospasm. To date, this is the youngest known patient with reported Kounis syndrome.     

Aortic dissection at 6 months gestation in a women with Marfan's syndrome. Simultaneous Bentall intervention and cesarean section

A 31 year old woman with Marfan's syndrome had a dilatation of the aortic root (55-60 mm at the beginning of pregnancy). Pregnancy was continued with beta-blocker therapy and with regular echocardiographic follow-up. The aortic dilatation increased (62-65 mm) at the last control and, at the 34th week of pregnancy, the patient suffered a dissection of the ascending aorta. A caesarean section was performed with a Bentall procedure during the same operative session. The mother and baby girl are well two years later. The problems of pregnancy in patients with Marfan's syndrome are discussed.     

Unique Echocardiographic Markers of Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery (ALCAPA) in the Adult

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital heart defect in adults. We report a 38‐year‐old male presenting with exertional syncope. He was referred for the evaluation of multiple muscular ventricular septal defects diagnosed on an outpatient echocardiogram. Echocardiography revealed mild left ventricular enlargement, abnormal flow‐pattern in the ventricular septum and dilatation of the right coronary artery. Pulsed‐wave Doppler with sample volume placed in the coronary ostium showed systolic coronary flow predominancy. This unique finding is characteristic for ALCAPA and can differentiate it from other coronary anomalies. Coronary angiography confirmed ALCAPA syndrome. Surgical correction was planned.     

Myocardial infarction during post-abortion DIC

We report the case of a 40 year old woman admitted for dilatation and curettage at 12 weeks of amenorrhoea with post-abortion partial placental retention. Clinically she had developed disseminated intravascular coagulation (DIC) complicated by an acute coronary syndrome with persistent ST elevation in the inferior leads. Management of her myocardial ischaemia was symptomatic, due to the underlying complex coagulation disorder making coronary reperfusion techniques impossible. After treatment for the cause of DIC, coronary angiography revealed no detectable angiographic lesion or spasm. In this context, the most likely aetiological hypothesis is a thrombus related to the DIC in an otherwise healthy heart, which was spontaneously lysed.     

Supravalvular aortic stenosis and coronary aneurysm]

A 32-year old woman, with endocarditis caused by Streptococcus mitis, and systolic murmur is presented. The Doppler examination was found a systolic gradient of 150 mmHg. Aortography showed a multiple membranous supravalvular aortic stenosis, with aneurysmal dilatation of the left main coronary artery and circumflex artery, associated with bicuspid aortic valve and mild aortic insufficiency. The patient died suddenly by cardiac arrest in stand by to cardiac surgery. Anatomic comprobation was not possible. The coronary artery anomalies associated with the supravalvular aortic stenosis syndrome are reviewed.     

Two cases of myocardial infarction in type 4 Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is an inherited connective tissue disorder. Clinical manifestations of this syndrome are due to fragile connective tissue. Though many cardiovascular disorders in association with it have been reported, myocardial infarction is quite rare. In this report, two cases with type 4 Ehlers-Danlos syndrome and myocardial infarction are described. Patient 1 was a 30-year-old woman. She was diagnosed as having myocardial infarction on the basis of typical changes in electrocardiograms and serum enzymes (CPK, SGOT and LDH). The diagnosis of type 4 Ehlers-Danlos syndrome was made by the microscopic examination of her connective tissue. Patient 2 was a 32-year-old man. He was also diagnosed as having acute myocardial infarction. His fibroblasts were cultured and they could not synthesize type 3 collagen. Type 4 Ehlers-Danlos syndrome was diagnosed. It was likely that myocardial infarction might have resulted from the fragility of their coronary arteries in type 4 Ehlers-Danlos syndrome.     

Spontaneous coronary artery dissection involving the left main stem: assessment by intravascular ultrasound

This case report describes the devastating consequences of spontaneous coronary dissection in a 36 year old female patient who otherwise had a normal coronary arteriogram. Intravascular ultrasound showed coronary artery dissection and intramural haematoma at the left main stem coronary artery. Acute coronary syndrome developed and subsequently surgical revascularisation was performed successfully.     

Treatment of tracheobronchomegaly with an Ultraflex prosthesis. A case report

Tracheobronchomegaly is defined as a dilatation of the trachea and the large bronchi. It may occur as a familial condition or in association with a connective tissue disease, e.g. Ehlers-Danlos syndrome. Tracheobronchomegaly occurs late in adults. The predominant symptoms are bronchial irritation and recurrent bronchopulmonary infections (because of ineffective cough). Diagnosis is provided by thoracic imaging, particularly computed tomography that enables measuring the precise diameter of the trachea. We report the case of one patient with tracheobronchomegaly who was greatly improved after implantation of Ultraflex tracheobronchial prostheses.