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BACKGROUND Obstructive sleep apnea (OSA) is a risk factor of several cardiovascular diseases. We investigated the association between aortic root diameter and hypoxia-related parameters in hypertensive patients with OSA. METHODS Our study included 242 hypertensive patients with OSA (52 mild, 71 moderate, and 119 severe). All the patients underwent echocardiography for measuring aortic root diameter and polysomnography for measuring apnea–hypopnea index (AHI), oxygen desaturation index, and time spent with oxygen desaturation less than 90%. RESULTS The study patients included 19.8% women and had a mean (±SD) age of 49.9 ± 12.9 years, a mean aortic root diameter of 33.4 ± 2.6 mm, and a prevalence of echocardiographic aortic root dilation of 3.7%. Patients with mild, moderate, and severe OSA had similar echocardiographic left ventricular structure. However, patients with severe OSA had a significantly (P < 0.05) greater aortic root diameter (33.9 ± 2.4 mm vs. 32.4 ± 2.2 and 33.4 ± 2.9 mm, respectively) and higher prevalence of aortic root dilatation (5% vs. 1% and 3%, respectively) than those with mild and moderate OSA. Aortic root diameter corrected by body height was significantly (P < 0.001) associated with AHI, oxygen desaturation index and time spent with oxygen desaturation less than 90% (r = 0.23–0.33). After adjustment for various confounding factors, the associations between aortic root diameter and polysomnography parameters remained statistically significant (P < 0.05). CONCLUSIONS The severity of OSA was associated with the aortic root diameter. Patients with severe OSA had a greater aortic root diameter.

Aortic root dilatation is a frequent disease affecting mostly young patients that often requires surgical repair. Surgical techniques in young patients include aortic valve-sparing procedures to avoid prosthetic valve implant.The aim of this paper is to describe the results obtained in three patients with aortic root dilatation using the Florida Sleeve technique.From November 2015 to January 2017, three patients with severe aortic regurgitation due to aortic anuloectasic were intervened applying the Florida Sleeve technique.Excellent postoperative results were obtained in the three cases including freedom of aortic regurgitation and any cause re-operation during three years of follow-up.The Florida Sleeve technique is a safe, reproducible technique with a learning curve and lower surgical times than traditional techniques. The medium-term clinical outcomes in terms of morbidity and mortality are good.La dilatación de la raíz aórtica es una patología frecuente que afecta a pacientes jóvenes y su tratamiento es quirúrgico. Las técnicas quirúrgicas de elección en pacientes jóvenes son las de preservación de la válvula aórtica para evitar el implante de una prótesis valvular.El presente trabajo tiene como objetivo describir la técnica de Florida Sleeve y los resultados de nuestra experiencia.Entre noviembre de 2015 y enero de 2017 fueron intervenidos en nuestro centro tres casos de pacientes con insuficiencia aórtica severa secundaria a anulectasia aórtica en los que se realizó la técnica de Florida Sleeve.En los tres casos se obtuvieron excelentes resultados postoperatorios, libres de insuficiencia aórtica residual y de reoperación por cualquier causa, resultados que se mantuvieron a los tres años de seguimiento.La técnica de Florida Sleeve es una técnica segura, reproducible con una curva de aprendizaje y tiempos quirúrgicos inferiores a las técnicas tradicionales. Los resultados clínicos a medio plazo en términos de morbimortalidad son buenos.

Marfan Syndrome (MFS) is a systemic disorder caused by mutations in fibrillin-1. The most common cause of mortality in MFS is dissection and rupture of the aorta. Due to a highly variable and age-dependent clinical spectrum, the diagnosis of MFS still remains sophisticated. The aim of the study was to determine if there exist phenotypic features that can play the role of “red flags” in cases of MFS suspicion. The study population included 306 patients (199 children and 107 adults) who were referred to the Department of Pediatric Cardiology due to suspicion of MFS. All patients underwent complete clinical evaluation in order to confirm the diagnosis of MFS according to the modified Ghent criteria. MFS was diagnosed in 109 patients and marfanoid habitus in 168 patients. The study excluded 29 patients with other hereditary thoracic aneurysm syndromes. Comparative analysis between patients with Marfan syndrome and marfanoid habitus was performed. Symptoms with high prevalence and high positive likelihood ratio were identified (pectus carinatum, reduced elbow extension, hindfoot deformity, gothic palate, downslanting palpebral fissures, lens subluxation, myopia ≥ 3 dioptres remarkably high stature). The differentiation between patients with MFS and marfanoid body habitus is not possible by only assessing external body features; however, “red flags” could be helpful in the screening phase.

Aortico-left ventricular tunnel is a rare congenital anomaly requiring surgical repair early in childhood. After corrective surgery, such patients are at risk of developing aortic insufficiency and aortic root dilatation. Herein, we describe a valve-sparing aortic root replacement 3 decades after the repair of aortico-left ventricular tunnel.

Aortic diameter and progression to thoracic aortic aneurysm are influenced by several factors. In this study, we investigated the association of alcohol consumption with aortic root and ascending aorta dilatation. In the context of the Corinthia study, we examined 1751 patients with echocardiography. Several demographic and clinical characteristics were recorded. Alcohol consumption was assessed based on a questionnaire of frequency, type, and quantity. Accordingly, patients were categorized as everyday alcohol consumers (EDACs) and as social drinkers (SoD). Everyday alcohol consumers were further categorized to group 1: 0 to 1 drink/d; group 2: 1 to 2 drinks/d; and group 3: ≥3 drinks/d. From the study population, 40% were categorized as EDAC and had an increased aortic root diameter (AoRD) and an elevated AoRD index compared with SoD. Interestingly, there was a stepwise increase in aortic root and ascending aorta diameter according to daily alcohol consumption. Specifically, patients consuming ≥3 drinks of alcohol/d had increased indexed aortic by 1.4 mm/m2 compared with SoD even after adjustment for possible confounders. Daily alcohol consumption is associated with increased aortic root diameter. These findings may have important clinical implications, especially in patients with borderline or dilated aortic root, and merit further investigation.

Marfan syndrome (MFS) is a connective tissue disorder characterized by a broad range of clinical manifestations. Cardiovascular involvement is the most life-threatening aspect of the syndrome. Although abnormalities within the cardiovascular system in adults are well documented, there is still a paucity of data regarding manifestation of MFS in childhood. The aim of the study was to compare cardiovascular manifestation of MFS between children and adults. The study population consisted of 236 patients (144 children and 92 adults), who were referred to our department with suspicion of MFS. All patients underwent complete clinical evaluation in order to confirm the diagnosis of MFS according to the modified Ghent criteria. MFS was diagnosed in 101 (44 children and 57 adults) out of the 236 patients. The other patients were diagnosed with Ehlers-Danlos syndrome, Loeys-Dietz syndrome, MASS phenotype, ectopia lentis syndrome, marfanoid habitus and other rare syndromes. The most common cardiovascular abnormality was aortic root dilatation (81.19% of patients). It was found that both adults and children had similar high rates of aortic root dilatation. Similarly, there was no significant difference with regard to the prevalence of aortic valve regurgitation and mitral valve prolapse among children and adults. These findings equivocally indicate that the aforementioned abnormalities develop in early childhood, therefore, they may be used in the early identification of patients with MFS. Other assessed abnormalities, which included mitral valve regurgitation, pulmonary artery dilation, aneurysms of aortic arch, descending thoracic aorta and abdominal aorta were found mostly in adults, and thus, are of less use in the early detection of MFS.

Patients after the Ross procedure are at risk for right (RV) and left ventricular (LV) dysfunction due to neo-aortic and pulmonary dysfunction. While neo-aortic root dilatation has been related to LV dysfunction, the potential contributions of aortic stiffness and ventricular interactions have not been evaluated. Patients status post Ross procedure up to age 18 years with cardiac magnetic resonance (CMR) exam from 2007 to 2018 were retrospectively reviewed. Aortic pulse wave velocity (PWV) was calculated from phase contrast and angiogram images. RV and LV peak global longitudinal (GLS) and circumferential strain (GCS) were measured using tissue tracking software. Multivariable regression was performed for variables associated with parameters of LV function. In 58 patients (median age 20.5 years at CMR exam), male gender, longer time since Ross procedure, aortic root dilatation, and lower RV ejection fraction (EF) were associated with decreased LV EF. There was no association with LV late gadolinium enhancement or neo-aortic or conduit regurgitation. LV GCS and GLS also correlated with RV GCS, RV GLS and PWV. In multivariable analysis, the relation of RV and LV systolic function, but not aortic measurements, remained significant. In conclusion, in long-term follow-up after pediatric Ross procedure, RV function rather than aortic root size or aortic stiffness most closely relates to LV function. Ventricular interactions may impact decision-making on timing of conduit intervention, which could differ from established criteria in populations with only aortic or pulmonary valve disease. Further study is warranted to evaluate possible association with clinical outcome.

A 42-year-old man was referred to our hospital with heart failure and unoperated tricuspid atresia with pulmonary valve stenosis. His condition was initially managed with medical therapy; however, he required repeat hospitalisations for congestive heart failure. We diagnosed the chief cause of his heart failure as aortic valve regurgitation secondary to aortic root dilatation. Aortic root replacement was performed and then his heart failure was controlled.

Progressive neo-aortic/pulmonary root dilatation and associated valve regurgitation if translocated into the aortic position, remains a major drawback and serious late complication following the arterial switch operation. This video tutorial presents the technical aspects and a step-by-step illustration of the valve-sparing reimplantation technique, which allows the neo-aortic valve to be maintained late after the arterial switch operation.

Aortic root dilatation is associated with increased cardiovascular risk in hypertensive adults. In the young, few data have been published evaluating the cardiovascular organ damage that may be present in patients with aortic dilatation. The objective was to evaluate the prevalence of proximal aorta dilatation, its possible determinants, and its relation with target organ damage in young subjects. The aorta was measured at the level of the sinus of valsalva and at its proximal ascending aorta (pAA) in a total of 177 young subjects (11–35 years). Linear regression analysis was used to assess the association between aortic size, clinical, and hemodynamic parameters. Prevalence of pAA and sinus of valsalva dilatation was 10.2% and 8.7%, respectively. No significant differences in prevalence were found in hypertensive, diabetic and obese subjects; aortic enlargement was less frequent in African-Americans. Age, sex, and central pulse pressure were the most important determinants of aortic size. Left ventricular mass was increased in patients with aortic enlargement, and aortic size showed an inverse relation with indices of local distensibility. The prevalence of aortic dilatation among young patients is high (10%). As in adults, age and body surface area are the main determinants of aortic size. Dilatation of the ascending aorta is associated with an increased left ventricular mass, as in adults, but not with increased arterial stiffness. Local distensibility is reduced in patients with pAA enlargement.

ObjectivesAortic root dilatation is reported in young athletes; however, it is unclear whether such remodelling is physiological or, whether it represents a potential aortopathy. This observational study investigated the prevalence and progression of aortic root dilatation in young athletes competing at regional or national level.MethodsBetween 2003 and 2015, 3781 athletes aged 19±5.9 years (63.3% male) underwent echocardiography as part of a cardiac screening programme to identify athletes with structural abnormalities. Athletes trained for an average of 16.7 hours per week. Aortic diameter was measured at the level of sinuses of Valsalva. Results were compared with 806 controls. Athletes with an enlarged aortic diameter were followed up for 5±1.5 years.ResultsAthletes revealed a larger mean aortic diameter compared with controls (28.3±4.1 vs 27.8±4.1 mm; p=0.01). The 99th percentile value for aortic diameter in the athlete cohort was defined as the upper limit and was 40 mm in males and 38 mm in females. The aortic diameter measured >40 mm in five male (0.17%) (40–43 mm) and >38 mm in six female (0.4%) (39–41 mm) athletes. During follow-up, none of the athletes with an enlarged aortic diameter showed progressive aortic enlargement compared with the first assessment (40.6±0.9 vs 40.5±0.7 mm in males; (p=0.111) and 38.3±0.6 vs 38.0±0.7 mm in females; (p=0.275)).ConclusionsA small minority (0.3%) of athletes reveal an enlarged aortic diameter. Medium-term follow-up does not reveal progressive enlargement of the aortic diameter indicative of aortopathy. Longer surveillance studies are necessary to elucidate the precise significance of an enlarged aortic diameter in athletes.

OBJECTIVES Selection of tubular graft size during David reimplantation technique for aortic root dilatation is based on perioperative leaflet height measurements. The present study evaluated whether transthoracic echocardiography (TTE)-based algorithms may help in selecting the graft size preoperatively. METHODS Thirty patients (52 ± 11 years old, 73% men) who underwent David reimplantation technique were evaluated. The implanted graft size was based on the David's formula. Leaflet height [diameter = 1.1 × ((2 × 2/3 × leaflet height) + 2)), leaflet length (diameter = ((2 × 2/3 × leaflet length) + 2)] and leaflet area [diameter = 0.8 × ((2 × √(total leaflet area/π)) + 2)] TTE-derived formulas were retrospectively developed. The percentage of under- or oversized implanted grafts was calculated and the association between the adequacy of graft sizing using TTE-derived formulas and the incidence of residual aortic regurgitation (AR) was evaluated retrospectively. RESULTS The incidence of postoperative mild residual AR was 23%. The true diameter of the inplanted graft was oversized based on leaflet height in 15 (50%) patients, based on leaflet length in 13 (43%) patients and based on leaflet area TTE-derived formula in 11 (37%) patients. The incidence of mild AR was significantly lower in undersized grafts compared with oversized grafts based on leaflet length TTE-derived formula (6 vs 46%, P = 0.032) and leaflet area TTE-derived formula (5 vs 55%, P = 0.009). CONCLUSIONS In patients undergoing David reimplantation technique, grafts considered undersized according to the leaflet length or leaflet area TTE-derived formula were associated with less incidence of residual AR than patients with oversized grafts.

Background Special consideration may be required for surgical treatment in Takayasu arteritis because inflammation may cause serious complications such as valve detachment or dilatation of the residual aorta. We evaluated our surgical outcome of treatment for aortic regurgitation and aortic root dilatation in Takayasu arteritis. Methods Between December 1983 and January 2013, 22 cardiac operations were performed in 20 patients with aortic regurgitation due to Takayasu arteritis. Aortic valve replacement was carried out in 6 patients, and aortic root replacement in 16. Of these 16 patients, composite graft replacement was undertaken in 6, composite graft replacement plus coronary artery bypass grafting in 2, composite graft replacement plus total or partial arch replacement in 7, and valve-sparing aortic root replacement with hemiarch replacement in one. Results The operative mortality (within 30 days) was 4.5% and the 5-year survival rate was 90.9%. Early surgical reintervention was not required in any patient. Neither valve detachment nor composite graft detachment was noted. Two patients required redo aortic root replacement due to pseudoaneurysm formation and severe aortic regurgitation during follow-up. Late dilatation of the residual thoracoabdominal or abdominal aorta was observed in 2 patients, and both were treated surgically. Conclusions The early surgical outcome was acceptable but surgical reintervention was required because of late dilatation of the residual aorta or recurrent aortic regurgitation due to annular dilatation, and longstanding careful follow-up will be needed.

Introduction and Aims: Intrinsic aortopathy can lead to dilatation late after tetralogy of Fallot (TOF) repair. Its extent and prevalence are not known. We aimed to assess aortic dimensions and elasticity and to find predictors of aortic dilatation. Methods: A total of 126 adults were prospectively included after TOF repair and compared to 63 gender- and age-matched controls. Transthoracic echocardiography was used to assess aortic diameters at the level of the sinuses of Valsalva and ascending aorta and aortic dilatation was defined as z-score >+2. M-mode parameters of the ascending aorta were used to calculate strain, distensibility and stiffness index. Results: TOF patients (mean age 30±9 years; 52% male) had a complete repair at a median age of five (2-49) years; mean follow-up time since repair was 23±7 years. The prevalence of aortic dilatation at the sinuses of Valsalva and ascending aorta was 29% and 24%, respectively. Compared to controls, TOF patients had a higher ascending aorta z-score, lower strain (6.4% [0.0-61.5] vs. 15.2% [0.0-45.0], p +2. Parâmetros modo M da aorta ascendente foram usados para calcular strain, distensibilidade e índice de rigidez. Resultados: Doentes com tetralogia de Fallot (idade média 30 ± 9 anos; 52% homens) foram operados com uma idade mediana de 5 (2-49) anos; tempo médio de seguimento desde a cirurgia 23 ± 7 anos. A prevalência de dilatação dos seios de Valsalva e da aorta ascendente foi 29% e 24%, respetivamente. Comparado aos controlos, os doentes com tetralogia de Fallot apresentaram maior z-score da aorta ascendente, menor strain (6,4 [0,0-61,5] versus 15,2 [0,0-45,0]%; p < 0,01) e maior índice de rigidez (7,3 [0,8-23,6] versus 3,1 [0,9-14,1]; p < 0,01). Na análise multivariada o sexo masculino associou-se significativamente à dilatação dos seios de Valsalva (odds ratio 6,3, intervalo de confiança de 95% 1,5-26,3; p = 0,01). Conclusões: Na tetralogia de Fallot operada há uma prevalência significativa de dilatação tardia da aorta, com a aorta ascendente maior e mais rígida. O sexo masculino parece influenciar a dilatação da raiz da aorta. Esta aortopatia requer um seguimento cuidadoso para evitar complicações futuras. Keywords: Aortic dilatation, Aortic elasticity, Tetralogy of Fallot, Transthoracic echocardiography, Palavras-chave: Dilatação aórtica, Elasticidade aórtica, Tetralogia de Fallot, Ecocardiografia transtorácica

Although the high prevalence of aortic root dilatation in adults with repaired tetralogy of Fallot (rTOF) is well established [(1,2)][1], evidence to guide clinical follow-up and decision making remains sparse. We sought to define the features, determinants, and rate of progression of aortic

We report the case of a 40-year-old man with known Marfan syndrome who presented with severe aortic valve regurgitation secondary to significant aortic root dilatation. To rule out coronary artery disease and to evaluate the rest of the thoracic aorta before surgery, cardiac computed tomography (CT) was performed. A brief review of the literature shows how cardiac CT can, in selected cases, rule out coronary artery disease before non-coronary cardiothoracic surgery. Resumo: Descrevemos o caso de um doente de 40 anos de idade com Síndrome de Marfan, que apresenta regurgitação valvular aórtica grave, secundária a dilatação severa da raiz aórtica. Para excluir a presença de doença coronária e estudar os restantes segmentos aórticos antes da cirurgia, foi realizada uma angioTC cardíaca.Uma breve revisão da literatura demonstra como, em determinados contextos, a angioTC cardíaca pode ter vantagens na exclusão de doença coronária antes de cirurgia cardio-torácica não coronária. Keywords: Cardiac CT, Marfan syndrome, Aortic aneurysm, Palavras-chave: AngioTC cardíaca, Síndrome de Marfan, Aneurisma da aorta

The prevalence of aortic root dilatation (ARD) in mucopolysaccharidosis (MPS) is not well documented. We investigated aortic root measurements in 34 MPS patients at the Children’s Hospital of Orange County (CHOC). The diagnosis, treatment status, age, gender, height, weight and aortic root parameters (aortic valve annulus (AVA), sinuses of Valsalva (SoV), and sinotubular junction (STJ)) were extracted by retrospective chart review and echocardiographic measurements. Descriptive statistics, ANOVA, and paired post-hoc t-tests were used to summarize the aortic dimensions. Exact binomial 95% confidence intervals (CIs) were constructed for ARD, defined as a z-score greater than 2 at the SoV. The patient age ranged from 3.4–25.9 years (mean 13.3 ± 6.1), the height from 0.87–1.62 meters (mean 1.24 ± 0.21), and the weight from 14.1–84.5 kg (mean 34.4 ± 18.0). The prevalence of dilation at the AVA was 41% (14/34; 95% CI: 25%–59%); at the SoV was 35% (12/34; 95% CI: 20%–54%); and at the STJ was 30% (9/30; 95% CI: 15%–49%). The highest prevalence of ARD was in MPS IVa (87.5%). There was no significant difference between mean z-scores of MPS patients who received treatment with hematopoietic stem cell transplantation (HSCT) or enzyme replacement therapy (ERT) vs. untreated MPS patients at the AVA (z = 1.9 ± 2.5 vs. z = 1.5 ± 2.4; p = 0.62), SoV (z = 1.2 ± 1.6 vs. z = 1.3 ± 2.2; p = 0.79), or STJ (z = 1.0 ± 1.8 vs. z = 1.2 ± 1.6; p = 0.83). The prevalence of ARD was 35% in our cohort of MPS I–VII patients. Thus, we recommend screening for ARD on a routine basis in this patient population.

Marfan syndrome (MFS) is a connective tissue disorder with major features in cardiovascular, ocular and skeletal systems. Recently, diagnostic criteria were revised where more weight was given to the aortic root dilatation. We applied the revised Marfan nosology in an established adult Marfan population to define practical repercussions of novel criteria for clinical practice and individual patients. Out of 180 MFS patients, in 91% (n = 164) the diagnosis of MFS remained. Out of 16 patients with rejected diagnosis, four patients were diagnosed as MASS (myopia, mitral valve prolapse, borderline non-progressive aortic root dilatation, skeletal findings and striae) phenotype, three as ectopia lentis syndrome and in nine patients no alternative diagnosis was established. In 13 patients, the diagnosis was rejected because the Z-score of the aortic root was

Background and aim. The ratio of deceleration time to early mitral wave velocity (mitral deceleration index, MDI) has been recently shown to predict cardiovascular events more precisely than deceleration time alone in human hypertension. Data, however, about the relationship of this parameter with cardiac structure are scant. In the present study, we investigated such an association in uncomplicated essential hypertensives. Methods. A total of 329 hypertensive subjects categorized in tertiles of MDI were considered for the analysis. All patients underwent the following procedures: (i) physical examination and clinic blood pressure measurement; (ii) routine laboratory investigations; (iii) M-mode, two-dimensional and Doppler echocardiography aimed at a comprehensive assessment of left- and right-sided chambers. Results. Unadjusted left ventricular (LV) mass, right ventricular (RV) and aortic root diameter were significantly higher in the upper MDI tertile, but only aortic root diameter remained significant after adjustment for covariates. A progressive, non-significant increase in biventricular hypertrophy occurred across the MDI tertiles. In a multivariate analysis, MDI was significantly associated with age (β = 0.229, p = 0.001) and aortic root diameter (β = 0.226, p = 0.001); this was not the case for deceleration time alone. No association between MDI and LV as well as RV structural parameters was found. Conclusion. Our findings indicate that MDI is unrelated to LV and RV structural changes. Altered LV diastolic function, as assessed by MDI but not by deceleration time alone, is independently associated with aortic root dilatation, a phenotype predictive of incident cardiovascular morbidity and mortality. © 2011 Scandinavian Foundation for Cardiovascular Research.

Objective To report the results of aortic root reoperations after pulmonary autograft implantation. Methods All consecutive patients in our prospective Ross research database were selected for analysis, and additional information for patients requiring reoperation was obtained from the hospital records. Results From 1988 to 2009, 155 pulmonary autograft operations were performed. During this period, 41 patients required reoperation for aortic root dilatation and/or autograft valve insufficiency, in 8 patients combined with pulmonary allograft dysfunction. The freedom from autograft reoperation rate was 86% (standard error, 3.3%) after 10 years and 52% (standard error, 6.6%) after 15 years. The median interval to reoperation was 15.3 years. During reoperation, 39 patients underwent aortic root replacement (mechanical conduit, 31; stentless root, 2; allograft, 3; and valve sparing, 3), and 2 patients underwent valve replacement. In 8 patients this was combined with pulmonary allograft replacement. The technical difficulties encountered included bleeding at the sternal re-entry in 5 patients. No 30-day mortality occurred. The postoperative complications included reexploration for persistent blood loss in 3 patients and cerebrovascular accident in 3 patients. Two patients died during the follow-up period. The survival rate after reoperation was 94% (standard error, 4.1%) at 5 years. Conclusions An increasing number of patients requires reoperation after pulmonary autograft implantation. These reoperations can be done with very low mortality and morbidity and excellent follow-up results.

OBJECTIVE The ideal prosthesis for aortic valve replacement in infants and adolescents is still controversially discussed. Implantation of mechanical prostheses or homografts is associated with serious risks such as reoperations, thromboembolic events and infections. This has led many surgeons to prefer the Ross operation. METHODS Between 1996 and 2008 we performed Ross operations in 98 children and infants with a mean age of 11 years (range 1 mo-25 y), including concomitant procedures (n = 33). The operation was performed as a full-root replacement in 97 and as a subcoronary implantation in one patient. The patients were followed for up to twelve years (follow-up complete) to determine clinical and echocardiographic parameters. Mean duration of follow-up was 60 +/- 37 (range 3-150 months). RESULTS Overall survival was 98 % (n = 96). In 70 patients (71.4 %) no autograft insufficiency (AI) could be observed. AI grade I was present in 22 patients (22.4 %), AI grade II in 3 patients (3 %), and AI grade III in one patient. The autograft in the latter patient was replaced by a mechanical prosthesis. Aortic root dilatation was observed in 10 patients (10.2 %). Z-score (median) in these patients was 4.1 (normal z-score < or = 2.4). One patient with aortic root dilatation was reoperated. A pacemaker was implanted in two patients. No patient is on constant anticoagulants. CONCLUSION The anatomy and physiology of the LVOT is best restored by the implantation of a pulmonary autograft. This additionally provides a growth potential for infants at low risk for reoperations. Autograft dilatation is a risk that requires constant evaluation.

To assess linear and geometric parameters of the aortic valve and to determine the changes which are associated with impaired leaflets coaptation and aortic root enlargement.Surgical anatomy of the aortic root and its spatial relationships with surrounding heart structures were studied with plastination by using of combined silicon technologies. 123 specimens of the aortic root with preserved original geometry were created with silicone plastination technique and perfusion embalming. Analysis included 15 heart specimens with the signs of aortic root dilatation and 108 specimens without evidence of dilatation. Multiple logistic regression was used for statistical analysis.Anatomical and clinical analysis showed that deviation angle of the intercusp triangle is the factor contributing impaired aortic root geometry and aortic regurgitation (OR 1.3, 95% CI 1.114-1.350, p0.0001).1) Increased deviation angle of intercusp triangles is associated with impaired coaptation of aortic valve leaflets. 2) Restoration of intercusp triangle deviation angle within 1.7±1.2° degrees is geometrically necessary to achieve normal function of the aortic valve.Коаптация заслонок аортального клапана (АК) зависит от соотношения пространственных и геометрических характеристик структур корня аорты. Размеры структур имеют различия не только между индивидами, но и между структурами одного корня аорты. Происходящие изменения геометрических параметров корня аорты при различных заболеваниях являются гемодинамической компенсаторной реакцией. Изучение оптимальных геометрических характеристик корня аорты, соблюдение которых обеспечивает замыкательную функцию АК даже при его исходной дилатации, необходимо для выполнения реконструктивных операций, разработки новых протезов корня аорты для долговечного функционирования реконструированного клапана, а также для создания кондуитов, долгосрочно функционирующих в выходном отделе как левого, так и правого желудочка. В настоящей работе проанализировано влияние геометрических характеристик на развитие морфометрических изменений корня аорты, которые приводят к недостаточности АК. Проведено анатомо-клиническое исследование структур корня аорты. В результате статистического анализа выявлено, что изменение угла отклонения межзаслончатого треугольника АК является фактором, влияющим на прогноз развития дилатации корня аорты и недостаточности АК (отношение шансов 1,3, 95% доверительный интервал 1,114-1,350, р0,0001). Цель работы - провести комплексное морфометрическое исследование линейных и геометрических параметров АК и определить, изменение каких параметров сочетается с неполным смыканием полулунных заслонок АК и дилатацией корня аорты. Материал и методы. Для изучения хирургической анатомии корня аорты и исследования его пространственных взаимоотношений с окружающими структурами сердца использовались объемные пластинаты сердца, изготовленные с помощью силиконовой техники при комнатной температуре. Для создания 123 препаратов корня аорты с сохранением первоначальной геометрии были использованы комбинированные методики силиконовой пластинации и перфузионного бальзамирования. Исследование проведено на 15 препаратах сердца с признаками дилатации корня аорты и 108 препаратах без признаков дилатации. Статистическую обработку полученных данных осуществляли с помощью метода множественного логистического регрессионного анализа. Результаты. Проведено анатомо-клиническое исследование структур корня аорты. В результате статистического анализа полученных данных выявлено, что фактором, влияющим на прогноз развития изменений геометрии корня аорты и недостаточности АК, является изменение угла отклонения межзаслончатого треугольника АК (отношение шансов 1,3, 95% доверительный интервал 1,114-1,350, р0,0001). Вывод. Увеличение угла отклонения межзаслончатых треугольников АК приводит к нарушению его замыкательной функции. Геометрической основой достижения нормальной функции АК при реконструкции корня аорты является восстановление углов расположения межзаслончатых треугольников АК в пределах 1,7±1,2°.

Due to cardiovascular and skeletal abnormalities, anesthetic management of parturients with Marfan's syndrome can be particularly challenging. Parturients with aortic root dilatation are at risk for aortic dissection. We describe the anesthetic management of a parturient with Marfan's syndrome and aortic root dilatation, who required general anesthesia for Cesarean delivery.At 26 weeks gestation, a nulliparous woman with Marfan's syndrome presented to the Anesthesia Clinic. Her history revealed asymptomatic aortic root dilatation of 41 mm, and partial correction of scoliosis with Harrington rods. Her cardiologist advised metoprolol, serial echocardiograms, and Cesarean delivery to decrease the risk of aortic dissection. At a multidisciplinary conference, a decision was made to proceed with Cesarean delivery, at term, at the cardiac surgery centre. After placement of arterial and central lines, general anesthesia was induced with remifentanil, propofol, and succinylcholine. Anesthesia was maintained with N(2)O, sevoflurane, and remifentanil (0.02-0.08 microg x kg(-1) x min(-1)). Transesophageal echocardiography examination confirmed stable aortic root dilatation. The patient remained hemodynamically stable. The baby's Apgars were 4 and 8, at one and five minutes, respectively. At the end of the procedure, the patient's trachea was extubated when she was awake. Initial postoperative care was in the intensive care unit. Both mother and baby recovered uneventfully.Peripartum hemodynamic changes can be life-threatening to the parturient with Marfan's syndrome and aortic dilatation. Anesthetic goals for delivery included preparation for possible aortic dissection, and avoidance of increased aortic root shear stress, through careful hemodynamic monitoring, and general anesthesia using remifentanil.

Objectives: There is evidence of a negative association between diabetes and both abdominal aortic aneurysm and aortic diameter. However, little information is available on the relation between diabetes and aortic root diameter. Methods: We studied 109 patients with type 2 diabetes. Two-dimensional echocardiography was used to measure the aortic root at the aortic annulus, the sinus of Valsalva, the sinotubular junction and the proximal part of the ascending aorta. Measured mean values were compared with 218 age- and sex-matched patients without diabetes. A comparison of the prevalence of aortic regurgitation between the 2 groups was also performed. Results: In patients with diabetes, the mean aortic root dimensions were significantly smaller than in nondiabetic patients (p < 0.05). The prevalence of aortic root dilatation was significantly higher in nondiabetic subjects than in patients with diabetes (9.63 vs. 2.75%; p = 0.025). In the multivariable regression model, diabetes was a significant negative determinant of aortic root size at all measured sites. The prevalence of aortic regurgitation tended to be higher in nondiabetic subjects than in diabetic participants (11 vs. 18.8%); however, the difference did not achieve statistical significance (p = 0.071). Conclusions: In patients with diabetes, the aortic root dimension is significantly smaller than in patients without diabetes.

Background We evaluated the relationship of aortic root dimension (ARD) with flow output and both peripheral and central blood pressure, using multivariable equations predicting ideal sex‐specific ARD at a given age and body height. Methods and Results We measured echocardiographic diastolic ARD at the sinuses of Valsalva in 3160 adults (aged 42±16 years, 61% women) from the fourth examination of the Strong Heart Study who were free of prevalent coronary heart disease, and we compared measured data with the theoretical predicted value to calculate a z score. Central blood pressure was estimated by applanation tonometry of the radial artery in 2319 participants. ARD z scores were divided into tertiles representing small, normal, and large ARD. Participants with large ARD exhibited greater prevalence of central obesity and higher levels of inflammatory markers and lipids (0.05< P P P z score was related positively to stroke volume, either cuff or central diastolic blood pressure, and negatively to pulse pressure. Large ARD was also independently correlated to higher waist circumference and percentages of neutrophils and plasminogen activator inhibitor‐1 (all P Conclusions Aortic root dilatation is associated with high diastolic blood pressure, high stroke volume, central fat distribution, and inflammatory status. In contrast, at a given diastolic blood pressure and stroke volume, aortic root dilatation is associated with lower pulse pressure and systolic blood pressure.

BACKGROUND: Aortic root dimension (ARD), an echocardiographic marker of aortopathy, has recently been associated with intracranial aneurysm eccentricity, suggesting a common underlying pathophysiology between intracranial aneurysm and aortopathy. OBJECTIVE: To identify specific intracranial aneurysm-related parameters that independently correlate with ARD in patients with subarachnoid hemorrhage. METHODS: Clinical and aneurysm-related parameters obtained from 151 patients with ruptured intracranial aneurysms, and who also underwent echocardiography with ARD measured, were examined. Univariate and multivariate analysis were performed to determine correlation of these parameters with ARD. RESULTS: 151 patients who were evaluated from 2008 to 2013 were analyzed. Multivariate linear regression revealed that male gender and fusiform aneurysms were correlated with higher ARD (P < 0.01 and P = 0.041, respectively) after adjustment for other morphological and clinical variables. CONCLUSIONS: Fusiform aneurysms are correlated with larger ARD than saccular aneurysms, suggesting a shared pathophysiologic mechanism with aortopathy.

Background and Aims: Bicuspid aortic valve (BAV) is a common congenital cardiac malformation. The major complications are aortic stenosis (AS), aortic regurgitation (AR), infectious endocarditis and aortic dissection. This paper aims to assess the hemodynamic importance of incidentally-found BAV in military aviators and evaluate the effect of high G-force on disease progression. Methods: Aviators with BAV were detected by reviewing all cardiac assessment records between 1987 and 2005. All aviators underwent annual flight surgeon examination. Echocardiography was performed as recommended by our cardiologists and flight surgeons. Results: Eight newly diagnosed cases of BAV were found. All of the aviators continued active aviation throughout the study period. Repeat echocardiography demonstrated progressive widening of the aortic diameter in five of the eight aviators. No worsening of valve dysfunction was seen in those with mild aortic regurgitation at diagnosis. Left ventricular dimensions and function did not deteriorate. No new valve complications, including infectious endocarditis, were seen. The age at diagnosis strongly correlated with the root diameter change; both total (r = 0.74, p = 0.02) and annualized (r = 0.78, p = 0.02) change. Over a mean follow-up period of 12.1 years, no difference was seen in the progression of BAV in high-performance as compared to low-performance aviators. Conclusions: Exposure to G-force and anti-G maneuvers does not appear to worsen cardiac and valve function in aviators with BAV.

Shprintzen-Goldberg syndrome is a rare and lethal association of craniosynostosis with features of Marfan syndrome. 1 It has been traced to a defect of chromosome 15. 2 Cardiac features include progressive aortic root dilatation. To our knowledge, there is no known association of this syndrome with congenital heart defects.

TGF-β-related heritable connective tissue disorders are characterized by a similar pattern of cardiovascular defects, including aortic root dilatation, mitral valve prolapse, vascular aneurysms, and vascular dissections and exhibit incomplete penetrance and variable expressivity. Because of the phenotypic overlap of these disorders, panel-based genetic testing is frequently used to confirm the clinical findings. Unfortunately in many cases, variants of uncertain significance (VUSs) obscure the genetic diagnosis until more information becomes available. Here, we describe and characterize the functional impact of a novel VUS in the TGFBR2 kinase domain (c.1255G>T; p.Val419Leu), in a patient with the clinical diagnosis of Marfan syndrome spectrum. We assessed the structural and functional consequence of this VUS using molecular modeling, molecular dynamic simulations, and in vitro cell-based assays. A high-quality homology-based model of TGFBR2 was generated and computational mutagenesis followed by refinement and molecular dynamics simulations were used to assess structural and dynamic changes. Relative to wild type, the V419L induced conformational and dynamic changes that may affect ATP binding, increasing the likelihood of adopting an inactive state, and, we hypothesize, alter canonical signaling. Experimentally, we tested this by measuring the canonical TGF-β signaling pathway activation at two points; V419L significantly delayed SMAD2 phosphorylation by western blot and significantly decreased TGF-β-induced gene transcription by reporter assays consistent with known pathogenic variants in this gene. Thus, our results establish that the V419L variant leads to aberrant TGF-β signaling and confirm the diagnosis of Loeys–Dietz syndrome in this patient.

OBJECTIVES The higher risk of adverse aortic events in patients with bicuspid aortic valve (BAV) disease and ascending aorta aneurysm is known, but the management of moderate aortic root dilatation in younger patients is a controversial issue. The aim of the study was to compare survival in patients with or without root replacement. METHODS We reviewed 166 consecutive patients with BAV disease and concomitant ascending aorta aneurysm (mean ascending aorta diameter: 51.4 ± 7.2 mm) undergoing cardiac surgery from 1994 to 2010. A total of 77 patients underwent Bentall procedure (90.9% male, mean age: 55.7 ± 12.7 years, Bentall group), whereas the remaining 89 patients underwent aortic valve replacement with supracoronary ascending aorta replacement (SAAR 71.9% male, mean age: 60.5 ± 11.2 years, SAAR group, P = 0.002). The preoperative mean diameter of the root was 44.0 ± 7.2 mm in the Bentall, and 38.5 ± 4.8 mm in the SAAR group (P < 0.0001). RESULTS In-hospital mortality was 2.6% in the Bentall, and 2.3% in the SAAR groups. Overall survival was 84 and 81% in the Bentall (median follow-up: 105 months) versus 89 and 88% in the SAAR (median follow-up: 73 months) groups at 10 and 15 years (P = 0.36), respectively. The mean cardiopulmonary bypass (CPB) time was 201 ± 56 min and 174 ± 58 min (P = 0.0016), the mean cross-clamp time 156 ± 42 min and 132 ± 38 min (P = 0.0008) in the Bentall and SAAR groups, respectively. Four sudden deaths have occurred in the Bentall group and in 2 in the SAAR group. Progressive dilatation of the aortic root in the SAAR group was not significat (postoperative mean diameter: 36.3 ± 4.4 mm). Neither subgroup of patients in the SAAR with preoperative moderate dilatation of aortic root had significat aortic dilatation at the mean follow-up of 73 ± 39 months (preoperative diameter: 43.5 ± 2.3 mm versus postoperative: 39.1 ± 4.2 mm). One patient in Bentall and 1 in the SAAR groups were reoperated for tubular graft infection. CONCLUSIONS In patients with BAV disease, ascending aorta aneurysm and moderate dilatation of the root, the significat reduction of CPB and cross-clamp times, the stability of the residual root at long term and the low risk of adverse aortic events associated with SAAR compared with the Bentall procedure have led us to consider the isolated aortic valve replacement with supracoronary aorta replacement an alternative strategy to the Bentall procedure, especially in high-risk and older patients.

A 33-year old male patient with absent left atrioventricular connection and double outlet left ventricle developed severe aortic root dilatation and aortic regurgitation. He had undergone initial banding of the pulmonary trunk and atrial septectomy, eventually followed by the bidirectional Glenn procedure. At the time of the total cavopulmonary connection (at 27 years of age), his ascending aorta was plicated and wrapped. Subsequently, the aortic root below the wrapped ascending aorta showed further dilatation. The Bentall procedure was successfully carried out.

Objectives We have developed the Early Screening for Cardiovascular Abnormalities With Preparticipation Echocardiography protocol to improve false-positive rates, reduce referrals, and broaden the spectrum of disease that can be captured through preparticipation screening of athletes. This study documents the first application of this protocol and uses case analysis to discuss the potential utility of portable sonography in screening. Methods Sixty-five male collegiate athletes, aged 18 to 25 years, were prospectively enrolled. Each athlete was screened with a history and physical examination, electrocardiography (ECG), and focused echocardiography performed by a noncardiologist sports medicine physician. The history and physical examination were based on the 12-element American Heart Association recommendations; 2010 European Society of Cardiology criteria were used to screen ECGs. Focused physician-operated echocardiography was performed to assess for hypertrophic cardiomyopathy and aortic root dilatation. Athletes screening positive were referred to a cardiologist. Results Most of the athletes (n = 59) did not screen positive by any screening modality. Three athletes screened positive on ECG but had normal focused echocardiographic findings. Three athletes screened positive by history and physical examination but had normal ECG and focused echocardiographic findings. All athletes screening positive were referred to a cardiologist and eventually cleared for sports participation. No athlete screened positive by focused echocardiography alone. Focused echocardiography was able to reduce the referral rate for hypertrophic cardiomyopathy by 33% and obtained measurements statistically similar to those of formal echocardiography. Conclusions This study provides evidence that focused physician-operated echocardiography can improve false-positive rates and broaden the spectrum of disease that is detectable through preparticipation screening of athletes.

Aortic root dilatation (ARD) and arterial hypertension represent two important risk factors for aortic dissection: prevalence of observed ARD is increasing - up to 12% in the latest available reports. A recently published work tested on a good number of healthy individuals new reference ranges for aortic root dimensions, suggesting new reference values with corrections for age, gender, height (pHeight) or body surface area (pBSA).The aim of the study was to evaluate the prevalence of ARD in hypertensive patients using various criteria.A total of 1076 untreated and treated essential hypertensive patients (mean age, 52.5 ± 2 years) were considered for this analysis. We measured proximal aortic diameters using ultrasound imaging (echocardiography). ARD was defined in three ways. First, when the observed aortic diameter was larger than that predicted for age, sex, and BSA (pBSA), second when larger than predicted by height (pHeight), and third when the aortic diameter to BSA ratio (ASi) was at least 2.1 cm/m.A total of 237 patients (22% of the study population) showed at least one among the three different criteria defining aortic dilatation. Prevalence of ARD, considering singularly each one of the criteria, varied between 12.8% (pBSA) and 16.9% (pHeight).Our study demonstrated a prevalence of ARD higher than previously reported. Our data suggest, therefore, the necessity of a correct choice of the diagnostic criterion that has to be applied in the single patient for definition of ARD. In particular, using the criterion pHeight in obese patients, we may avoid underdiagnosis of this condition.

Background and aim. Aortic root dilatation (ARD) is a cardiovascular phenotype of adverse prognostic value; its prevalence has been mostly investigated in population-based samples and selected hypertensive cohorts. Data from clinical practice are rather scant. Thus, we examined the prevalence and correlates of ARD in a large sample of hypertensive patients referred by general practitioners for a routine echocardiographic examination. Methods. A total of 2229 untreated and treated hypertensive subjects (mean age 62 years) referred to 17 outpatient echocardiographic laboratories across Italy for detection of hypertensive subclinical cardiac damage were included in the study. ARD was defined by aortic diameter exceeding 3.7 cm in women and 3.9 cm in men. Results. ARD was found in 263 patients, with an overall prevalence of 11.8% (16.9% in men and 6.2% in women, p < 0.05). In multivariate regression analyses, body surface area (BSA), left ventricular (LV) mass and age were in ranking order the most important correlates of aortic root size in the whole population study as well as in men. In women, LV mass and its derivative indexes were the most important independent variables associated to aortic root size. Conclusions. This multicenter nationwide survey indicates that ARD is a frequent cardiovascular phenotype in hypertensives referred to echo-labs for detection of hypertensive organ damage. BSA, LV mass and age are the most important correlates of this phenotype. The hierarchical order of these factors differs between genders, LV mass being the strongest independent variable in women. © 2011 Scandinavian Foundation for Cardiovascular Research

Summary Background Obstructive sleep apnoea syndrome (OSAS) is associated with an increased risk of arterial hypertension (AH), coronary artery disease, atrial arrhythmias, heart failure, stroke and death. Whether OSAS influences aortic root size has not been fully investigated. The aim of our study was to investigate aortic root diameter and aortic stiffness in OSAS. Methods Using transthoracic Doppler echocardiography, we evaluated 76 patients with OSAS (mean age 52.7 ± 9.5 years, 70 men [92%]) with no overt cardiovascular disease. The following parameters were measured offline: aortic diameter at Valsalva sinuses, aortic regurgitation (AR) grade, left ventricular (LV) mass, LV ejection fraction (LVEF, Simpson rule), systolic pulmonary artery pressure (sPAP). Aortic stiffness (carotid-femoral pulse wave velocity, PWV) was measured non-invasively using SphygmoCor technology. Results Mean duration of OSAS was four years and 84% of patients were being treated with continuous positive airway pressure. AH was documented in 39 (51%) patients. The mean aortic root diameter was 35.3 ± 3.8 mm (26.9–44.6 mm) and the prevalence of aortic root dilatation was 3.9% (3 of 76 patients). On univariate analysis, age and sex were significant predictors of aortic root dilatation whereas arterial hypertension was not. Conclusions The prevalence of aortic root enlargement was not increased in OSAS. Only age and sex and not arterial hypertension, were associated with aortic dilatation.

Objective To assess the prevalence of aortic root dilatation in a large cohort of uncomplicated hypertensive patients and to evaluate the relations of aortic root size to different markers of cardiac and extracardiac target organ damage (TOD). Methods A total of 3366 untreated and treated essential hypertensive patients (mean age, 53 +/- 12 years) consecutively attending our out-patient hypertension clinic and included in the Evaluation of Target Organ Damage in Hypertension (an observational ongoing registry of hypertension-related TOD) were considered for this analysis. All patients underwent routine examinations, 24-h urine collection for microalbuminuria, echocardiography and carotid ultrasonography. Results Aortic root dilatation, defined by the sex-specific echocardiographic criteria of 40 mm in men and 38 mm in women, was present in 8.5% of men and in 3.1% of women. Compared with 3160 patients with normal aortic size, the group of 206 patients with an enlarged aortic root was older, had higher diastolic blood pressure values and included a greater fraction of subjects under antihypertensive treatment, with type 2 diabetes and metabolic syndrome. The prevalence of left ventricular hypertrophy, carotid intima-media thickening, plaques and microalbuminuria was significantly higher in patients with aortic root dilatation. According to a logistic regression analysis, left ventricular hypertrophy, carotid atherosclerosis, overweight and metabolic syndrome were the main independent and potentially modifiable predictors of aortic root dilatation in the whole hypertensive population as well as in untreated and treated hypertensive patients separately. Conclusions Our study shows that hypertensive patients with aortic root enlargement have more pronounced alterations in cardiac structure and geometry as well as in carotid artery morphology compared with those without the enlargement. Aortic root dilatation therefore appears to be a useful marker of high cardiovascular risk related to TOD. Whether this alteration independently predicts cardiovascular morbidity remains to be proven.

Objectives: We have conducted aortic valve-sparing operation for patients having aortic root dilatation and almost normal aortic valve leaflets since August 1998, and here report midterm results.Methods: Patients with dilated aortic annulus or Marfan’s syndrome were treated with reimplantation, and the remaining patients with remodeling. Either 24 or 26 mm graft was selected based on aortic annular diameter and leaflet size. Aortic valve competence was assessed regularly with echocardiography.Results: Five patients (age: 29±13 yr), including 4 with Marfan’s syndrome, had undergone reimplantation, and 3 (age: 46±18 yr) remodeling by December 2000. Mean follow-up was 18 (range: 10–32) months, and no postoperative death has occurred and no reintervention has been required thus far. All the patients in the remodeling group showed only a small pressure gradient through the aortic valve and decreased left ventricular diameter. Two in the reimplantation group showed a pressure gradient exceeding 20 mmHg. Two Marfan’s syndrome patients in the reimplantation group showed slightly increased diastolic left ventricular diameter and 3 slightly increased systolic left ventricular diameter. Although aortic regurgitation had diminished in all patients by discharge, moderate aortic regurgitation recurred in 1 non-Marfan’s syndrome patient in the reimplantation group because of degenerated aortic valve.Conclusion: Although postoperative aortic valve function was not perfect in all patients undergoing reimplantation, midterm results after aortic valve-sparing operation were generally satisfactory. Proper selection of patients, procedures, and graft size was thought to be important to ensure a favorable surgical outcome.

Homograft aortic valve replacement (AVR) has been shown to have many advantages over other forms of AVR. The technique of full aortic root replacement, introduced by us in 1975, has the potential to reproduce, at least in part, the normal native aortic valve behavior. There is, however, a debate about the early and long-term results of this operation, particularly in relation to overall valve performance, aortic root dilatation and calcification, left ventricular function, fate of coronary anastomoses, sensitization against allograft, and any other complications. Although we report about a single patient, this study represents the longest follow-up for this operation, which is of historical value and could provide some valuable insights.

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.