Ehlers-Danlos syndrome with a sinus of valsalva aneurysm and aortic insufficiency simulating rheumatic heart disease

Tucker, Donald H.; Miller, D.Edmond; Jacoby, William J.

doi:10.1016/0002-9343(63)90142-6

Cited by 42 publications

(4 citation statements)

References 15 publications

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“…1,3,[5][6][7][8][9][10][11][12] Pepin et al 13 recently reported the prevalence of cardiovascular complications in a large cohort of patients with vascular EDS; these primarily involve rupture or dissection of medium-sized arteries and the descending aorta. The prevalence of cardiovascular complications in the classical and hypermobile forms are unknown.…”

Section: Abstract: Ehlers-danlos Echocardiogram Aorta Aortic Dilamentioning

confidence: 99%

Prevalence of aortic root dilation in the Ehlers-Danlos syndrome

Wenstrup

Meyer

Lyle

et al. 2002

Genetics in Medicine

125

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Purpose: To determine the prevalence of proximal aortic abnormalities in patients with Ehlers-Danlos syndrome (EDS). Methods: In a prospective cohort study, aortic measurements by two-dimensional echocardiography were performed on consecutive EDS patients. Results: Twenty-eight percent (20 of 71) had aortic root dilation (ARD) (Ͼ ϩ2 SD above population based norms). Key Words: Ehlers-Danlos, echocardiogram, aorta, aortic dilationThe Ehlers-Danlos syndromes (EDS) are a genetically, biochemically, and clinically diverse group of heritable connective tissue disorders having joint laxity and dermal features in common. 1-3 Prior classifications of EDS have included up to 11 disorders. Recently a simplified classification came into use that takes into account increasing clinical experience and advances in our understanding of the molecular pathogenesis of these disorders. Table 1 provides the new Villefranche classification and its relationship to the most recent prior classification in 1988. 2,4 Of these, the classical (EDS types I, II), hypermobile (EDS type III), and vascular (EDS type IV) types are by far the most common.A variety of cardiovascular complications have been associated with EDS, including mitral valve prolapse, rupture of medium-sized arteries, varicose veins, easy bruising, dilation and/or rupture of the aortic sinus and rupture of the aorta. 1,3,[5][6][7][8][9][10][11][12] Pepin et al. 13 recently reported the prevalence of cardiovascular complications in a large cohort of patients with vascular EDS; these primarily involve rupture or dissection of medium-sized arteries and the descending aorta. The prevalence of cardiovascular complications in the classical and hypermobile forms are unknown. We began to perform baseline echocardiographic evaluations on all EDS patients seen in our clinics after having identified a few cases of EDS with aortic root dilation, some of whom had complications. 12 The data indicate that the prevalence of aortic root dilation in these two forms of EDS is higher than previously suspected and that longitudinal follow-up of a large cohort of EDS patients will be necessary to determine whether or to what extent these patients are at risk for serious complications such as aortic rupture, valvular insufficiency, or dissection.

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Section: Abstract: Ehlers-danlos Echocardiogram Aorta Aortic Dilamentioning

confidence: 99%

Prevalence of aortic root dilation in the Ehlers-Danlos syndrome

Wenstrup

Meyer

Lyle

et al. 2002

Genetics in Medicine

125

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“…Among the other cardiac abnormalities that have been previously reported in patients with this syndrome are Fallot's tetralogy (Wallach and Burkhart, 1950), a "congenital cardiac defect" (Rubinstein and Cohen, 1964) which caused the death of the patient at the age of 2 years, and an aneurysm of the right sinus of Valsalva, which was associated with aortic incompetence and pulmonary hypertension (Tucker, Miller, and Jacoby, 1963). The necropsy on the patient reported by McFarland and Fuller (1964) revealed that the tricuspid valve had only two leaflets.…”

Section: Discussionmentioning

confidence: 96%

Cardiac abnormalities in the Ehlers-Danlos syndrome.

Beighton¹

1969

Heart

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“…A number of cardiovascular abnormalities accompanying the Ehlers-Danlos syndrome have Open-heart surgery in Ehlers-Danlos syndrome 117 been described in a small number of patients: a partial endocardia1 cushion defect (Fantl et al), aortic insufficiency and aneurysm of the sinus of Valsalva (Tucker, Miller & Jacoby, 1963), fatal dissecting aortic aneurysms (McKusick), tetralogy of Fallot (Wallack & Burkhart, 1950), insufficiency of mitral and tricuspid valves (Madison, Bradley & Castillo, 1963), and a probable atrial septa1 defect (Freeman, 1950). T o our knowledge, only one of these patients has been subjected to operation: in a boy, aged 11, open-heart surgery was performed with repair of a partial endocardial cushion defect (Fantl et al).…”

Section: Open-heart Surgery In Ehlers-danlos Syndrome 1 15mentioning

confidence: 99%

Repair of Atrial Septal Defect in a Patient with the Ehlers-Danlos Syndrome

Scheinin¹,

Dahl²

1967

Scandinavian Journal of Thoracic and Cardiovascular Surgery

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An 18-year-old girl with uncomplicated ostium secundum defect and an Ehlers-Danlos syndrome of moderate severity was subjected to open-heart surgery with closure of the defect. The coagulation mechanism was normal. Recovery was uneventful with fairly normal healing of incisions and suture lines.Only a few instances of cardiac malformations have been reported in connection with this rare connective tissue disorder. To our knowledge, one patient with this syndrome has previously been subjected to open-heart surgery.The varying severity of the connective tissue disorder in different parts of the body, disparities of different tissues, and individual variations in the severity of the Ehlers-Danlos syndrome should be considered when subjecting these patients for surgery. Scand Cardiovasc J Downloaded from informahealthcare.com by University of Newcastle on 01/03/15 For personal use only. Scand Cardiovasc J Downloaded from informahealthcare.com by University of Newcastle on 01/03/15 For personal use only.

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Ehlers-Danlos syndrome with a sinus of valsalva aneurysm and aortic insufficiency simulating rheumatic heart disease

Cited by 42 publications

References 15 publications

Prevalence of aortic root dilation in the Ehlers-Danlos syndrome

Prevalence of aortic root dilation in the Ehlers-Danlos syndrome

Cardiac abnormalities in the Ehlers-Danlos syndrome.

Repair of Atrial Septal Defect in a Patient with the Ehlers-Danlos Syndrome

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