Aortic Root Abnormalities Research Articles

Aortic Root Pathologies and Surgical Management: Insights From a Single Surgeon's Experience.

Introduction and objectives The Bentall procedure is a surgical technique designed to address aortic root abnormalities, including issues with the aortic valve, aortic root, and ascending aortic disease. This study aimed to assess the short-term outcomes of 39 patients who underwent the Bentall and concomitant procedures: aortic root enlargement, personalized external aortic root support (PEARS), and Mini-Bentall procedures at a single center. Methodology We conducted a retrospective study involving 39 patients who underwent surgery for aortic root pathologies such as dissection, Marfan syndrome (MFS), bicuspid aortic valve, degenerative disease, and atherosclerosis at our hospital between January 2019 and September 2024. Data were collected from clinical records and were utilized for statistical analysis. Results In this study of 39 patients (average age 43.97 ± 17.45 years; 71.8% male), hypertension was the most common risk factor (46.2%). The early mortality rate was 2.6%, with one death from bleeding. Dissection and MFS were the leading causes of aortic root pathologies (35.9% each). Coexisting heart diseases were found in 20.5% of patients. Emergency and urgent surgeries accounted for 38.5% and 53.8%, respectively. Bentall surgery was performed in 64.4% of cases, with average cardiopulmonary bypass (CPB) and cross-clamp times of 196.10 ± 25.23 and 169.05 ± 23.9 minutes, respectively. Conclusion Overall, the hospital mortality rate for the Bentall procedure at our institution was 2.6%, consistent with the reported literature. Our results show that, although complex, the classic Bentall technique can be performed safely with acceptable short-term morbidity and mortality. Addressing complications like hospital mortality and postoperative bleeding is crucial, as these issues may be preventable.

Echocardiography of the aortic root: a practical approach for aortic valve-sparing surgery.

Owing to its excellent long-term results, aortic valve-sparing surgery is increasingly used in patients with aortic regurgitation and/or ascending aortic aneurysm. Moreover, in patients with a bicuspid valve who meet the criteria for replacement of the aortic sinuses or aortic regurgitation surgery, valve-sparing surgery may be considered if performed at a comprehensive valve center (Class 2b indication in both the American and European guidelines). Reconstructive valve surgery aims at restoring a normal aortic valve function and a normal aortic root shape as well. Echocardiography plays a central role in defining abnormal valve morphologies, in quantifying aortic regurgitation and mechanisms, and in appreciating tissue valve quality and surgical results. Therefore, despite the emergence of other tomographic techniques, 2D and 3D echocardiography represents the cornerstone for patient selection and prediction of the probability of a reliable repair. The present review focuses on echocardiographic evaluation to detect aortic valve and aortic root abnormalities, to quantify aortic valve regurgitation, to predict aortic valve reparability, and to assess immediate postoperative results in the operating room. Echocardiographic predictors of successful valve and root repair are presented in a practical way.

Bentall procedure as a lifesaving surgery: A single center experience.

The Bentall procedure is a surgical technique used in the management of aortic root abnormalities with ascending aorta and aortic valve issues. The present study aimed to evaluate the outcomes of 18 patients treated with the Bentall procedure in a single center. The present study was a single-center retrospective case series conducted over a period of 3 years. The patients had either acute ascending dissection and/or dilated ascending aorta with aortic valve dysfunction. The Bentall procedure was performed via standard median sternotomy. St. Jude Medical composite grafts with a valve were applied in all cases. A total number of 18 patients with either acute ascending dissection and/or dilated ascending aorta with aortic valve dysfunction were included in the study. The age of the participants ranged from 27-60 years. The ratio of males to females was 16:2 (males, 88.8%). The symptoms developed 3-4 days prior to hospital admission. Chest pain was the most common presenting symptom (n=10, 55.5%). Hypertension was the most common risk factor (n=12, 66.6%). In total, 14 cases underwent emergency surgery (77.7%). The emergency surgery was performed in 9 patients within 24 h of arrival owing to the association of aortic root dissection with tamponade. For the other cases, the surgery was performed within 2 and 7 days (n=5, 27.7% and n=4, 22.2%) respectively. Early post-operative complications occurred in 5 patients (27.7%). On the whole, as demonstrated herein, the modifications of the Bentall procedure have a notable impact on decreasing the overall mortality rates. Raising the awareness of clinicians and the general population as regards aortic dissection may aid in the early referral of patients to specialized centers and may thus decrease the overall mortality rate.

Abstract P1111: A SOX17-PDGFB Signaling Axis Regulates Aortic Root Development

Developmental etiologies causing complex congenital aortic root abnormalities are unknown. Here we show that deletion of Sox17 in aortic root endothelium in mice causes underdeveloped aortic root leading to a bicuspid aortic valve (BAV) due to the absence of non-coronary leaflet (NCL) and mispositioned left coronary ostium (LCO). The respective defects are associated with reduced proliferation of NCL mesenchyme and aortic root smooth muscle derived from the second heart field cardiomyocytes. Mechanistically, SOX17 occupies a Pdgfb transcriptional enhancer to promote its transcription and Sox17 deletion inhibits the endothelial Pdgfb transcription and PDGFB growth signaling to the NCL mesenchyme. Restoration of PDGFB in aortic root endothelium rescues the NCL and LCO defects in Sox17 nulls. These data support a SOX17-PDGFB axis underlying aortic root development that is critical for aortic valve and coronary ostium patterning, thereby informing a potential shared disease mechanism for concurrent anomalous aortic valve and coronary arteries.

A SOX17-PDGFB signaling axis regulates aortic root development

Developmental etiologies causing complex congenital aortic root abnormalities are unknown. Here we show that deletion of Sox17 in aortic root endothelium in mice causes underdeveloped aortic root leading to a bicuspid aortic valve due to the absence of non-coronary leaflet and mispositioned left coronary ostium. The respective defects are associated with reduced proliferation of non-coronary leaflet mesenchyme and aortic root smooth muscle derived from the second heart field cardiomyocytes. Mechanistically, SOX17 occupies a Pdgfb transcriptional enhancer to promote its transcription and Sox17 deletion inhibits the endothelial Pdgfb transcription and PDGFB growth signaling to the non-coronary leaflet mesenchyme. Restoration of PDGFB in aortic root endothelium rescues the non-coronary leaflet and left coronary ostium defects in Sox17 nulls. These data support a SOX17-PDGFB axis underlying aortic root development that is critical for aortic valve and coronary ostium patterning, thereby informing a potential shared disease mechanism for concurrent anomalous aortic valve and coronary arteries.

P761 Clinical manifestation of bicuspid aortic valve in single center registry

Abstract INTRODUCTION Bicuspid aortic valve (BAV) is a congenital cardiac defect which may contribute to aortic stenosis (AS) and regurgitation (AR), aortopathy, endocarditis or in some group of patients remains without echocardiographic deviations. Prognosis of BAV population is hardly predictable. Nevertheless, the population of BAV requires regular medical control. PURPOSE The aim of our study was to assess the BAV appearance and characteristics in the Single Center Registry. METHODS All patients with recognition of BAV admitted to First Department of Cardiology at Medical University of Gdansk in years 2012-2018 were enrolled to analysis. Echocardiographic data were collected. Anthropometrics and comorbidities were recorded. Patents were categorized depending on BAV phenotype: coronary cusps fusion (Type 1), right-noncoronary cusps fusion (Type 2), left-noncornary cusps fusion (Type 3) and BAV without raphe (True Type). RESULTS 323 (25,7% female) patients were enrolled into the Registry. Average age of studied group was 55 ± 16.0. 190 (58.8%) patients were characterized by Type 1 BAV, 75 (23.2%) by Type 2 and 8 (2.4%) by Type 3. There were only 3 patients with True Type. In 14.5% of patients we were unable to clearly identify BAV phenotype. For the further analysis there were included Type 1 and Type 2 groups due to low prevalence of other types. Patients with Type 2 were slightly younger (51.3 ± 16.2 years vs 57.5 ± 13.4 years in Type 1 group; p < 0.01). The aortopathy appeared in 221 patients (68.4% of studied group). Type 1 was associated with larger diameter of aortic root comparing with Type 2 (40.7 ± 6.0 mm vs 38.7 ± 10.6 mm, respectively; p < 0.001), without significant difference in ascending aorta diameter (42.3 ± 7.1 mm in Type 1 and 40.9 ± 6.7 mm in Type 2; p = 0.19). In contrary, Type 2 was correlating with the higher prevalence of severe AR (16% vs 5.7% in Type 1; p < 0.01). Prevalence of AS was similar in both groups (48.4% in Type 1 and 37.85 in Type 2; p = 0.1). In the subgroup with severe AS (75 patients), there was no significant differences in the hemodynamic profile of AS between Type 1 and Type 2 group (respectively; peak transvalvular velocity- 4.5 ± 0.5 m/s2 vs 4.3 ± 0.6 m/s2, p = 0.2; mean transvalvular pressure- 54.2 ± 13.6 mmHg vs 46.6 ± 13.8 mmHg, p = 0.08; aortic valve area- 0.7 ± 0.1 cm2 vs 0.8 ± 0.1 cm2, p = 0.5). 4.3% of studied group were hospitalized due to endocarditis. Average age in that subgroup was 42.3 ± 12.0 years. There was no correlation between BAV phenotype and endocarditis prevalence. CONCLUSION Despite higher prevalence of severe AR in patients with Type 2 BAV, Type 1 is more predisposing to aortic root abnormalities. That discrepancy may confirm complex pathophysiology of BAV complications. Prevalence of AS and hemodynamic profile of severe AS does not present correlation with the type of BAV phenotype.

Familial hypercholesterolemia supravalvular aortic stenosis and extensive atherosclerosis

Familial hypercholesterolemia is an autosomally dominant disorder caused by various mutations in low-density lipoprotein receptor genes. This can lead to premature coronary atherosclerosis and cardiac-related death. The symptoms are more severe in the homozygous type of the disease. Premature malignant atherogenesis leading to aortic root abnormalities causing supravalvular aortic stenosis is rare. Our case demonstrates the diagnostic imaging findings of the phenotype of patients who have severe elevated LDL with familial hypercolesterolemia.

Aortopathy Is Prevalent in Relatives of Bicuspid Aortic Valve Patients

This study aimed to determine the prevalence of dilation and abnormal elastic properties of aortic root in first-degree relatives (FDRs) of bicuspid aortic valve (BAV) patients. Evidence indicates that BAV is a genetic disorder. Although FDRs of affected individuals have an increased prevalence of BAV, their risk of aortic root abnormalities is unknown. We studied dimensions as well as the elastic properties of the ascending aorta in 48 FDRs with morphologically normal tricuspid aortic valves, 54 BAV patients, and 45 control subjects using 2-dimensional echocardiography. The prevalence of aortic root dilation was 32% in FDRs and 53% in BAV patients, whereas all control subjects showed normal aortic dimensions (p < 0.001). The FDRs and BAVs had significantly lower aortic distensibility (1.7 +/- 1.4 x 10(-3) mm Hg and 1.4 +/- 2.0 x 10(-3) mm Hg vs. 2.5 +/- 1.6 x 10(-3) mm Hg, p < 0.001) and greater aortic stiffness index (26.7 +/- 25.8 and 55.9 +/- 76.8 vs. 18.7 +/- 40.1, p = 0.001) compared with control subjects. This difference remained significant in subjects without aortic root dilation or hypertension (p = 0.002 and p = 0.004, respectively). The aortic root is functionally abnormal and dilation is common (32%) in first-degree relatives of patients with BAV. Screening of FDRs by transthoracic 2-dimensional echocardiography should be considered for detection of aortic valve malformation and dilated ascending aorta.

Intrinsic Histological Abnormalities of Aortic Root and Ascending Aorta in Tetralogy of Fallot

Dilatation of the aortic root is a known feature in tetralogy of Fallot (TOF) patients with pulmonary stenosis (PS) or pulmonary atresia (PA). We hypothesized that intrinsic histological abnormalities of the aortic wall present since infancy are an important causative factor leading to aortic root dilatation. We examined the aortic histology of 17 cases with TOF and PS/PA from our cardiac morphology archive and compared them with a control group of normal aortas. Measured circumference of the aortic root at the sinotubular junction and at the ascending aorta was indexed to the left ventricle. Aortic walls were studied by light microscopy with the use of various stains. Seventeen TOF cases (7 with PS, 10 with PA) including 7 infants, 2 children, and 8 adults were compared with 11 hearts with normal aorta. Aortic root circumference to left ventricular index and ascending aortic circumference to left ventricular index were 1.24+/-0.25 and 1.37+/-0.24, respectively, in the TOF group versus 0.89+/-0.10 and 0.88+/-0.11, respectively, in the control group (P<0.001). Histological changes of grade 2 or 3 were present in 29% (medionecrosis), 82% (fibrosis), 35% (cystic medial necrosis), and 59% (elastic fragmentation) in the ascending aorta of the TOF group. Histology grading scores were significantly higher in the TOF group (median score, 7; range, 1 to 12) compared with normal controls (median score, 2; range, 0 to 6) and correlated with the ascending aortic circumference to left ventricular index (r=0.525, P=0.03). There are marked histological abnormalities in the aortic root and ascending aortic wall of patients with TOF present from infancy, suggesting a causative mechanism for subsequent aortic root dilatation.

Echocardiographic and Electrocardiographic Abnormalities in Ankylosing Spondylitis

Twenty nine male patients with ankylosing spondylitis of 5-35 years duration were investigated with echocardiogram and electrocardiogram. Although myocardial systolic function were normal, diastolic functions were disturbed. Aortic root abnormalities and sub aortic bumpings, two cases with aortic incompetence and mitral valve prolapse were documented. Electrocardiographic abnormalities were found as atrioventricular conduction disturbances. Echocardiography might be favorable diagnostic tool in rest or after exercises in ankylosing spondylitis for evaluation of cardiac involvement.

Two-dimensional echocardiographic detection of preclinical aortic root abnormalities in rheumatoid variant diseases

Two-dimensional echocardiographic findings of subaortic fibrous ridging, aortic leaflet thickening, and aortic root dilatation and thickening are described in a group of 36 patients with rheumatoid variant diseases. The group consisted of 25 patients with ankylosing spondylitis, nine patients with Reiter's syndrome, and two patients with inflammatory bowel disease and spondylitis. No patient had clinical or laboratory evidence of aortic regurgitation or heart block. Subaortic fibrous ridging or marked leaflet thickening was noted in 11 of 36 patients; In contrast, no such changes were found In an age-matched control group of 29 men. The subgroup of patients with subaortic fibrous ridging or leaflet thickening (11 patients) had significantly longer disease duration (28.1 versus 17.7 years) and higher Incidence of aortic root echo-density (82 versus 36 percent) than the remaining patients. It is concluded that a significant portion of patients with ankylosing spondylitis or Reiter's syndrome have echocardiographic evidence of aortic root Involvement prior to the clinical onset of aortic regurgitation.

Identification of the increased frequency of cardiovascular abnormalities associated with mitral valve prolapse by two-dimensional echocardiography

Two-dimensional echocardiography (2-D echo) was performed in 86 consecutive patients with mitral valve prolapse (MVP) and in 25 normal subjects. In normal subjects, mitral leaflet thickness was 3.5 +/- 0.8 mm (mean +/- standard deviation) and the mitral leaflet thickness to aortic wall thickness ratio was 1.0 +/- 0.2. Patients with MVP were separated into 2 groups: those with normal mitral thickness (less than or equal to mean + 2 SD observed in normal subjects, i.e., less than or equal to 5.1 mm) and normal mitral thickness to aortic wall thickness ratio (less than or equal to mean + 2 SD observed in normal subjects, i.e., less than or equal to 1.4) (group I) and others in whom these values were increased (group II). In group I, mitral thickness was 3.6 +/- 0.6 mm and mitral thickness to aortic wall thickness ratio was 1.1 +/- 0.1, and in group II, mitral thickness was 8.8 +/- 1.2 mm and mitral thickness to aortic wall thickness ratio was 2.2 +/- 0.5. The only significant cardiovascular abnormalities in group I were mitral regurgitation in 2 patients and tricuspid valve prolapse in 1 patient. In group II, 7 patients had clinically significant mitral regurgitation, 8 had aortic root abnormalities, 4 had tricuspid valve prolapse and 6 had Marfan's syndrome. Cardiovascular abnormalities were present in 60% (18 of 30) of patients in group II and in 6% (3 of 56) of patients in group I (p less than 0.001). Two-dimensional echo enabled the identification of a subset of patients with MVP who had thickened mitral leaflets. These patients had an increased incidence of cardiovascular abnormalities.

Echocardiographic assessment of cardiovascular abnormalities in the Marfan syndrome: Comparison with clinical findings and with roentgenographic estimation of aortic root size

Echocardiographic abnormalities of the mitral valve and aortic root were compared with auscultatory findings and with assessment of aortic root size by chest roentgenography in 61 patients with the Marfan syndrome. Echocardiography was more sensitive than physical examination in detecting valvular and aortic root abnormalities. Although physical examination revealed findings of mitral valve disease and/or of aortic regurgitation in 52 percent of patients (mitral valve disease in 44 percent and aortic regurgitation in 23 percent), echocardiography detected abnormalities of the mitral valve and/or aortic root in 82 percent of patients (mitral valve prolapse in 57 percent and aortic root enlargement in 69 percent). Prevalence of mitral valve prolapse was approximately equal in male and female patients, whereas aortic root enlargement was more frequent in males (83 percent) than in females (50 percent). Echocardiographically detected aortic root enlargement was frequently not apparent on chest x-ray films. Indeed, five patients with markedly increased aortic root diameters (ranging from 6.0 to 7.9 cm) had no evident enlargement of the aortic root on routine chest x-ray films. In all four of those patients who had angiographic and/or pathologic correlations, confirmation of marked aortic root dilatation was obtained. There are limitations to echocardiographic evaluation of the presence and severity of underlying cardiovascular disease in patients with the Marfan syndrome. Mitral valve disease may not be detected, especially in patients with left ventricular dilatation. In addition, due to anteroposterior compression of the left atrium by the enlarged aorta, left atrial size may be underestimated in patients with aortic root enlargement.

Aortitis in ankylosing spondylitis: Early detection of aortic root abnormalities with two dimensional echocardiography

Mild aortic root dilatation, cusp thickening and subvalvular fibrous ridges have been reported as characteristic in patients with ankylosing spondylitis and aortic regurgitation. Thirty-five patients with ankylosing Spondylitis (10 also had Reiter's syndrome) without clinically apparent cardiac involvement were studied using phased array two dimensional and sector-directed M mode echocardiography to determine the prevalence of aortic abnormalities. Aortic root dimensions were measured at the aortic anulus, at the tip of the cusps and 0.5 to 1.5 cm above the cusps. The two dimensional echocardiographic study was also analyzed for qualitative abnormalities. The dimensions were compared with those in 20 normal men and among patient subgroups separated according to age, duration and severity of ankylosing spondylitis and presence of qualitative abnormalities. With one exception, no abnormally increased aortic dimensions suggestive of aortic dilatation were found in any group. However, two patients had aortic dimensions greater than 4.2 cm at the valve (normal 4.0 cm or less). Also, six patients had discrete areas of increased bright echoes below the left or noncoronary cusps suggestive of a subaortic “bump” and two of the six patients had increased aortic cusp echoes suggestive of thickening or fibrosis, or both. These changes tended to occur more commonly in older patients and those with more severe disease. It is concluded that aortic root changes suggestive of inflammation or fibrosis, or both, occur in asymptomatic patients with ankylosing spondylitis and are detectable on two dimensional echocardiography. Dilatation usually does not occur without aortic regurgitation.

Early detection of aortic dilatation in ankylosing spondylitis using echocardiography.

Aortic root abnormalities including cusp thickening, subvalvular stenosis, and mild aortic root dilatation are the most common cardiac complications in patients with long standing ankylosing spondylitis (AS). Twenty-three patients with definite idiopathic AS (New York Criteria 1966) and twenty-two matched controls were studied with M-mode echocardiography. Only one of the AS patients had clinical aortic incompetence. Six of the AS patients had mildly dilated aortic roots (normal less than 3.7 cm) with a mean diameter of 3.9 cm (range 3.8 to 4.00 cm). None of the twenty-two controls matched for age, sex and blood pressure had dilated aortic roots, with a mean diameter of 3.3 cm (range 2.9 to 3.6 cm). No correlation existed between aortic dilatation and severity of disease estimated by acute phase proteins--caerulo plasmin, alpha 1-antitrypsin, alpha 1 acid glycoprotein, ferritin and C Reactive protein. Contrary to a previous report, mild aortic root dilatation occurs in long standing cases of AS. Although it is a non-specific finding, it does not appear to be related to age or blood pressure and may therefore be the forerunner of aortic incompetence.

Early detection of aortic root abnormalities in ankylosing spondylitis by two-dimensional echocardiography

Early detection of aortic root abnormalities in ankylosing spondylitis by two-dimensional echocardiography

Aortic regurgitation and aneurysm of sinus of Valsalva associated with osteogenesis imperfecta

A case of osteogenesis imperfecta with aortic regurgitation is described. The patient is the first whose aortic root abnormalities accounting for the aortic regurgitation were characterized by cardiac catheterization and angiography. The patient had a dilated aortic valve ring and an aneurysm of the sinus of Valsalva. The similarity of these findings to the cardiovascular abnormalities found in other types of connective tissue disorders is discussed and a common cause is suggested.