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While aortic root dilatation and valvular dysfunction have been well-documented in osteogenesis imperfecta (OI), the nature and extent of cardiovascular involvement in OI have not been clearly delineated. A clinical and echocardiographic survey involving 109 individuals with various nonlethal OI syndromes from 66 separate families was undertaken. Clinically discernible valvular dysfunction was encountered in only four of the 109 individuals (aortic regurgitation in two, aortic stenosis in one, and mitral valve prolapse in one), none of whom were related. Aortic root dilatation was recognized echocardiographically in eight (12.1%) of 66 individuals comprising a subset of the sample in which each family was represented by a single individual. The extent of the aortic root dilatation was mild (the largest dimension measuring 4.3 cm) and was unrelated to the age of the individual. Dilatation was seen in each of the different OI syndromes but was strikingly segregated within certain families (p less than .001). In the same subset of 66 individuals, mitral valve prolapse was encountered in two or 6.9% of the 29 individuals aged 15 years or greater in whom adequate studies were obtained. This observed frequency was not different from that seen in a normal adult population. Aortic root dilatation appears to represent a distinct phenotypic trait in patients with OI that is nonprogressive and occurs in about 12% of affected individuals. Whether mitral valve prolapse should be considered as a part of the cardiovascular phenotype in OI, or alternately segregates as an independent autosomal dominant trait has yet to be determined.

Echocardiography has proven a useful and sensitive means to determine noninvasively the cardiac dimensions. This report describes the echocardiographic detection of progressive dilatation of the aortic root over an 18-month period, which led to death in a 33-year-old man with Marfan's syndrome; however, at no time was the aortic dilatation evident on chest x-ray films. This patient illustrates the sensitivity of the echocardiogram in detecting and assessing the severity of disease of the aortic root not readily assessed by other noninvasive techniques and the value of serial measurements of aortic dimensions in patients with proven or suspected dilatation of the aortic root.

SummaryBackgroundNo previous study has looked for an association between aortic dilatation and the clinical sequelae of patent foramen ovale (PFO), although a possible relationship has been identified in case reports.AimTo compare aortic dimensions in patients with symptomatic PFO and healthy controls.MethodsForty-seven patients were identified who presented with cryptogenic cerebrovascular accident (CVA) assessed as most likely secondary to PFO (confirmed by contrast study), were aged less than 50 years and underwent percutaneous PFO closure. Forty-seven age-, sex- and body surface area-matched healthy controls were also identified.ResultsAortic root diameters were greater in PFO patients. The difference was more marked at the levels of the sinuses of Valsalva (34±4 vs 31±3mm, P

Loeys-Dietz syndrome is a recently described genetic connective tissue disorder. The syndrome is associated with multiple nonvascular phenotypic anomalies but also aggressive arteriopathy, which has so far principally been shown to cause aortic root dilatation with subsequent dissection and rupture. We report the first ever case of a young man diagnosed with Loeys-Dietz syndrome with asymptomatic large bilateral popliteal artery aneurysms. We have successfully resected these aneurysms and revascularized with synthetic graft.

To evaluate the relation of aortic root dilatation to aortic regurgitation, we examined clinical, echocardiographic, and radionuclide cineangiographic findings in 102 patients with severe aortic regurgitation. Aortic root dilatation was the only apparent cause in 31 patients (30%), exceeding in prevalence any valvular cause, and was independently associated only with older age (p less than 0.001). Echocardiography showed dilatation to be either localized to the sinuses of Valsalva or to be generalized. At initial evaluation, patients with generalized dilatation had severer abnormalities of left ventricular size and function than those with localized or no dilatation. Aortic valves were subsequently replaced in more patients with generalized than localized dilatation during 28 +/- 17 month follow-up (9 of 15 patients compared with 2 of 15, p less than 0.03). Thus, idiopathic aortic root dilatation is the commonest definable cause of severe aortic regurgitation; aortic root dilatation is associated independently with age but not blood pressure; and generalized aortic root dilatation is associated with marked ventricular dilatation, hypertrophy, and dysfunction.

• Aortic valve prolapse, an uncommon finding in subjects with aortic insufficiency, occurred in one patient with rheumatoid arthritis and one with a congenital bicuspid aortic valve, conditions in which aortic insufficiency has been commonly attributed to aortic root dilatation and incomplete aortic valve closure, respectively. Aortic valve prolapse may be more commonly reported as the cause of aortic insufficiency in these conditions now that noninvasive techniques, such as echocardiography, are available. (Arch Intern Med1985;145:1601-1603)

Echocardiographic and phonocardiographic findings in 35 patients with Marfan's Syndrome and ten patients without Marfan's or other clinically apparent connective tissue disorders but with angiographic and echocardiographic evidence of mitral prolapse are reported and compared. Echocardiography revealed aortic root dilatation and/or mitral valve prolapse in 97% of the patients with Marfan's Syndrome. Aortic root dilatation was found in 60% of this group (74% of males, 33% of females) while mitral valve prolapse was found in 91% (87% of males, 100% of females). The incidence of aortic dilatation and mitral prolapse in patients with Marfan's syndrome was essentially equal in children and adults of the same sex. None of the nine adults or one child with mitral prolapse but without evidence of Marfan's Syndrome or other clinically apparent connective tissue disorder had aortic root enlargement. Ausculatory examination and phnocardiography revealed abnormalities in 54% of the patients with Marfan's Syndrome. Aortic regurgitation was found in 23% of this group (35% of males, 0% of females) while mitral regurgitation and/or mitral clicks were found in 46% (39% of males, 58% of females). Aortic regurgitation was much more frequent in adult males with Marfan's Syndrome (7/14, 50%) than male children (1/9, 11%), while the incidence of abnormal mitral sounds was essentially the same in adults (33% of males, 60% of females) and children (43% of males, 57% of females) of the same sex with Marfan's Syndrome. Abnormal mitral sounds were more frequent in patients without Marfan's who had mitral prolapse (90%) than in those with Marfan's (46%). It appears that cardiac abnormalities are a consistent manifestation of Marfan's Syndrome and that ultrasound is a more sensitive indicator of these abnormalities in such patients than ausculation or phonocardiography.

A previously healthy 34-year-old Dutch immigrant to Australia died unexpectedly in his sleep. At autopsy the only significant finding was a floppy aortic valve (FAV). Histologic, histochemical and electron microscopic studies corroborated the macroscopic diagnosis. Previously described associations of the FAV include the floppy mitral valve, Marfan's syndrome, aortic root dilatation and aortic cystic medial necrosis. None of these features were found in the present case which is the first recorded example of isolated FAV presenting as sudden death. The mechanism of death is obscure, and while it is presumed to be dysrhythmic, a detailed histological examination of the cardiac conducting system revealed no anatomic abnormality.

The long-term follow-up of six patients operated on for aorto-left ventricular communication has been reviewed in detail. All had residual aortic regurgitation after the initial repair of the defect. It was severe in four and required repeated reoperation in three with ultimate aortic valve replacement. The failure of early repair to solve the haemodynamic problem has provoked a reconsideration of the basic anatomy, of the surgical approach, and of the postoperative physiology of this anomaly. The so called "tunnel" is not a tunnel with length but should be considered as a localised breach at the insertion of the right coronary cusp. The localised aortic root dilatation at the site is a weakness that remains after closure of the tunnel leaving a poorly supported aortic valve and a weak root. Thus, the initial repair of the aorto-left ventricular communication must not only close the communication but reinforce, strengthen, and support the right aortic sinus in order to maintain cusp competence.

Forty patients with fragile X [fra(X)] or Martin-Bell syndrome, confirmed by chromosome analysis, underwent full cardiac evaluation including physical examination, chest film, electrocardiography (ECG), and M-mode and 2-dimensional echocardiography. Thirty-four males and six females were studied. Although all patients were asymptomatic, seven males were found to have mild aortic root dilatation. All seven also had evidence of mitral valve prolapse. Twenty-two (55%) of the study patients had mitral valve prolapse with either a click or murmur heard on physical examination and confirmation by M-mode echocardiography. The frequency of mitral valve prolapse was the same in males and females, but 80% of males older than 18 years had mitral valve prolapse. These findings support the hypothesis of a connective tissue dysplasia in the fra(X) syndrome.

OBJECTIVE—To evaluate the dimensions of the aortic root in a selected population of young males with isolated normally functioning bicuspid aortic valve. DESIGN AND SETTING—Echocardiographic and Doppler evaluation of conscripts with bicuspid aortic valve at the time of military pre-enrolment screening in two military hospitals. SUBJECTS AND METHODS—66 consecutive young men with a normally functioning bicuspid aortic valve were studied to assess aortic size at four aortic levels: annulus, sinuses of Valsalva, supra-aortic ridge, and proximal ascending aorta; 70 consecutive normal young subjects, matched for age and body surface area, were used as controls. RESULTS—In men with a bicuspid aortic valve, the diameter of the aortic root was significantly larger than in controls at the sinuses (3.16 (0.37) v 2.87 (0.31) cm, p

(2.2*10 -3 mmHg -1 ± 1.8 vs. 4.9*10 -3 mmHg -1 ± 2.9, P < 0.01). Minor degrees of aortic regurgitation (AR) were present in 6 patients (AR fraction 5% ± 3 vs. 1% ± 1, P < 0.001). In addition, LV ejection fraction (LV EF) was decreased in ASO patients (51% ± 6 vs. 58% ± 5, P = 0.003) and LV dimensions were enlarged with LV enddiastolic volume 112 mL/m2 ± 13 vs. 95 mL/m2 ± 16 (P = 0.007) and LV end-systolic volume 54 mL/m 2 ± 11 vs. 39 mL/m 2 ± 7 (P < 0.001). AR fraction was correlated with increased PWV in the aortic arch (r = 0.39, P = 0.03), reduced root distensibility (r = 0.45, P = 0.01) and aortic root dilatation (r 0.32–0.66, P < 0.01 for all levels). Degree of AR predicted decreased LV EF (r = 0.41, P = 0.026) and was correlated with increased LV dimensions (r = 0.48, P = 0.008; r = 0.67, P < 0.001; respectively). Conclusion Aortic root dilatation and reduced elasticity of the proximal aorta were frequently present in ASO patients. Dilatation of the aortic root and reduced proximal aortic wall elasticity were associated with degree of AR, while AR was correlated with LV systolic dysfunction and increased LV dimensions after ASO.