Atrial septal defect becoming clinically evident after cardiac surgery for annuloaortic ectasia: a case report.

Background: Right ventricular volume overload is the key finding in a patient with previously undiagnosed atrial septal defect (ASD). Case summary: A 68-year-old female was referred to our hospital due to progressive pulmonary artery dilatation observed on her chest X-ray. Echocardiography revealed a secundum ASD with right ventricular dilatation. She had undergone aortic root replacement and aortic valve replacement for annuloaortic ectasia and aortic insufficiency 12 years prior to the diagnosis. She was also diagnosed with Marfan syndrome, which was supported by family histories. Computed tomography did not show a secundum ASD before the surgery. We finally closed the secundum ASD with catheter closure device. Discussion: Ascending aneurysm might mask the presence of secundum ASD. Monitoring the change in pulmonary artery dilatation overtime is useful for the diagnosing secundum ASD.

Modified Ravitch procedure for pectus excavatum in Marfan syndrome with annuloaortic ectasia.

OBJECTIVES: This case series aimed to determine the feasibility of simultaneous modified Ravitch and David procedures for Marfan syndrome patients with pectus excavatum and annuloaortic ectasia. METHODS: Between March 2014 and December 2019, 7 consecutive patients underwent simultaneous surgery of modified Ravitch and David procedures for pectus excavatum and annuloaortic ectasia. The completion of cardiac surgery and sternal closure were followed by the modified Ravitch procedure. The bilateral fourth to seventh costal cartilages were resected, the sternal body partially wedge resected and the sternum raised anteriorly with re-suture. An oblique incision was performed on bilateral third costal cartilages, and they were fixed on top of each other, with the medial end superior and the lateral end inferior. The sternum was raised anteriorly, bypassing the fourth to seventh rib ends through the back of the sternum with threads. The feasibility and safety of the procedure were assessed through a retrospective review of the patients' clinical charts. RESULTS: The total sample had a median age of 28 years and comprised 5 males and 2 females. There was a significant difference in the preoperative and postoperative median Haller index, which were 6.8 and 3.9, respectively. All patients were discharged without serious complications, and there was no significant recurrence of pectus excavatum at 35-92 months postoperatively. CONCLUSIONS: The results of our case series suggest the feasibility of one-stage surgery for pectus excavatum combined with cardiac surgery using the modified Ravitch procedure. Future efforts should be tailored for more uneventful postoperative clinical courses.

Targeted Panel Sequencing Identifies an Intronic c.5225-3C>G Variant of the FBN1 Gene Causing Sporadic Marfan Syndrome with Annuloaortic Ectasia.

Marfan syndrome (MFS) is a hereditary connective tissue disease whose clinical severity varies widely. Mutations of the FBN1 gene encoding fibrillin-1 are the most common genetic cause of Marfanoid habitus; however, about 10% of MFS patients are unaware of their genetic defects. Herein, we report a Korean patient with MFS and annuloaortic ectasia caused by an intronic c.5225-3C>G variant of the FBN1 gene identified by targeted panel sequencing. The reverse transcription analysis of FBN1 revealed that the intron 43 sequence from positions c.5297-1516 to c.5297-1 was retained at the coding sequence as a consequence of the c.5225-3C>G variant enhancing a cryptic splice acceptor site (c.5297-1518_5297-1517AG) in intron 43. The retained sequence of the part of intron 43 caused the same effect as insertion mutation (NM_000138.5:c.5297_c.5298ins5297-1516_5297-1), resulting in a frameshift mutation resulting in p.Ile1767Trpfs*3. The patient underwent an urgent modified Bentall operation with a 29 mm mechanical valve for annuloaortic ectasia and severe aortic valve regurgitation. This report emphasizes the need for functional investigations into the diagnostic workflows of certain diseases or gene panels with suspected high rates of intronic variants and potential pathogenic effects. Hence, further descriptions of individuals with intronic variants causing alternative splicing expected to have pathogenic effects at different transcript levels are crucial for improving our understanding.

Long-term durability of a reimplantation valve-sparing aortic root replacement can be expected in both Marfan syndrome and Loeys-Dietz syndrome.

OBJECTIVES: The goal of this study was to evaluate the surgical outcomes of a valve-sparing root replacement using the reimplantation technique for annuloaortic ectasia in patients with Marfan syndrome (MFS) and in those with Loeys-Dietz syndrome (LDS). METHODS: We reviewed 103 patients with MSF with mutations in the fibrillin-1 gene and 28 patients with LDS with mutations in the transforming growth factor-beta receptor and 2, SMAD3 and transforming growth factor beta-2 from 1988 to 2020. RESULTS: Forty-four (42.7%) patients with MFS [26 men, 31 (7.6) years] and 10 (35.7%) patients with Loeys-Dietz syndrome (LDS) [7 men, 22 (standard deviation: 8.6) years] who had no aortic dissection and underwent valve-sparing root replacement were included. The preoperative sinus diameter [46 (45-50.5) mm in those with MFS vs 48 (47-50) mm in those with LDS, p = 0.420] and the percentage of aortic insufficiency > grade 2+ [31.8% (10/44) in patients with MFS vs 10.0% (1/10) in those with LDS, p = 0.667] revealed no significant differences between the 2 groups. The cumulative incidences of aortic insufficiency greater than grade 1 (p = 0.588) and aortic valve reoperation (p = 0.310) were comparable between the 2 groups. Patients with LDS had a higher tendency towards aortic dissection after the initial operation (p = 0.061) and a significantly higher cumulative incidence of aortic reoperation (p = 0.003) versus those with MFS. CONCLUSIONS: Patients with MFS and those with LDS showed similar cumulative incidences of recurrent aortic valve insufficiency and aortic valve reoperation. Those with LDS revealed a higher cumulative incidence of aortic reoperation and a greater tendency towards aortic dissection after the initial operation compared with those with MFS.

Root Reimplantation and Aortic Annuloplasty With External Ring in Bicuspid Aortic Valve: An Anatomical Comparison.

Aortic annuloplasty has demonstrated to be a protective factor in valve-sparing root replacement and aortic valve repair. Both reimplantation for aortic root aneurysms and external ring annuloplasty for isolated aortic regurgitation have demonstrated good long-term results. The aim of this anatomical study is to compare aortic reimplantation with Valsalva graft with aortic external ring annuloplasty in bicuspid aortic valves, analyzing their morphological features with CT scan. We selected 56 patients with bicuspid aortic valve who underwent reimplantation procedure with Valsalva graft or external ring annuloplasty; after propensity-matching, 2 homogeneous groups of 10 patients each were obtained. Through multiplanar ECG-gated CT-Scan reconstructions, pre- and postoperative, aortic annular, and valve geometrical characteristics were compared (diameters, perimeter, area and ellipticity index for the annulus; effective height, coaptation length and commissural height for the valve). Aortic root volume was also analyzed. Postoperative comparison of the two groups showed similar geometric features of the aortic annulus in terms of major and minor diameters, perimeter, area and ellipticity index. Analysis of valve's parameters showed similar results in terms of effective height and coaptation length (respectively 10.9 ± 2.1 mm and 7.5 ± 1.9 mm in External Ring group and 10.1 ± 2.0 mm and 7.6 ± 1.6 mm in the Reimplantation group). Both techniques achieve an efficient annuloplasty with similar anatomical results on bicuspid the aortic valves. The stability of these results needs to be confirmed by long-term clinical and echocardiographic follow-up.

Posterior spinal fusion for severe kyphoscoliosis in a Loeys-Dietz syndrome patient with a large syringomyelia.

Spinal deformity is a characteristic feature of Loeys-Dietz syndrome (LDS). Surgical correction in LDS is indicated when the deformity is progressive to avoid neurological deficits, respiratory impairment, and back pain. However, few reports exist on the surgical treatment of spinal deformity in LDS, and no therapeutic standards have been established. We described the clinical and radiological outcomes of a patient with LDS receiving surgery for severe kyphoscoliosis. A 21-year-old male patient with LDS underwent posterior spinal fusion with an all-pedicle screw construct from T10 to L5 for a preoperative main curve Cobb angle of 70 degrees and kyphotic angle of 49 degrees. The postoperative Cobb angle of the main curve and kyphotic angle improved to 36 and 8 degrees, respectively. Correction surgery was performed with frequent motor evoked potential testing, taking care not to cause motor paralysis. Ameliorated low back pain and improvements in clinical questionnaire scores were noted at 21 months after surgery. No perioperative complications were reported. Based on the present case, posterior spinal fusion represents a good correction option for severe spinal deformity in LDS with syringomyelia. Careful preoperative examination and treatment for neurovascular and neurological lesions is advised to prevent severe complications.

Consecutive surgical sequelae in children and adolescents with Marfan syndrome after primary cardiovascular surgical interventions.

OBJECTIVES: This study focuses on the consecutive sequelae of children and adolescents with Marfan syndrome after primary cardiovascular surgical interventions and the long-term outcomes. METHODS: A retrospective review of children with Marfan syndrome who underwent primary surgical intervention in childhood (<18 years) and sequential cardiovascular operations between July 1986 and September 2014 was undertaken. RESULTS: Thirty-six children (mean age 12.38 ± 4.4, range 0.62-17.14 years, at the first operation; 12 females) underwent a total of 97 sequential cardiovascular operations. Primary pathologies were annuloaortic ectasia, aortic root and ascending aorta aneurysm, aortic valve insufficiency, floppy mitral valve and midaortic syndrome. Initial operations were emergency in 2 and urgent and elective in 10 and 24 patients, respectively. Associated skeletal abnormalities were seen in 8. All underwent a second operation; 17 underwent a third operation; 6 had a fourth; and 2 had a fifth. The survival rate of children <13 years of age at the first operation compared to those who were older and male, was not statistically significant (P = 0.244). The cumulative survival rate based on age at first operation was 63.24 ± 0.16% at a mean follow-up period of 13.9 ± 6.8 (median 11.8, range 2-32.6) years. CONCLUSIONS: Patients with Marfan syndrome undergoing surgery during childhood needed sequential reinterventions. However, even with multiple consecutive surgeries, long-term outcome is deemed satisfactory.

Chronic aortic dissection with tricuspid regurgitation: report of a case.

Dilatation of aortic root may distort the tricuspid annulus. We experienced a case of chronic aortic dissection presented with tricuspid regurgitation. Chest computed tomography revealed an enlarged ascending aorta displacing the right heart. The patient successfully underwent replacement of the aorta and tricuspid annuloplasty with a prosthetic annulus.

Left parasternal approach for Bentall procedure in a patient of Marfan syndrome with severe pectus excavatum.

Annuloaortic ectasia with ascending aortic aneurysm with severe aortic regurgitation with severe left ventricular dysfunction is a serious condition especially in patients with Marfan syndrome (MFS) simultaneously having severe pectus excavatum (PE) deformity. We report our left parasternal approach in such patient in whom median sternotomy was not feasible. We achieved excellent exposure of dislocated heart and great vessels enabling Bentall procedure. Since patient did not consent for combined correction of chest wall deformity, we plan to undertake it later. Therefore, we conclude that left parasternal approach is feasible for standard aortic root replacement surgery in severe PE.

Root aneurysm following aortic valve replacement 20 years after an arterial switch operation.

Late development of annuloaortic ectasia (AAE) and progression of aortic regurgitation (AR) are widely recognized outcomes following an arterial switch operation (ASO). We treated a 29-year-old male with AAE and rapid aortic root expansion, who underwent ASO as a neonate and aortic valve replacement (AVR) as an adult. He was diagnosed as having dextro-(D-loop) transposition of the great arteries after birth and underwent ASO at the age of 13 months. At the age of 19 years, AVR was performed for progressive AR. AAE developed after AVR. In patients who have undergone neonatal ASO, AAE may occur following AVR decades later.

Late complications after Cabrol technique in a case with Marfan syndrome.

A patient with Marfan syndrome underwent aortic root replacement with the Cabrol technique at 37 years of age. She underwent a surgical repair for an aneurysm in the right coronary at 58 years of age, followed by a surgical repair for a pseudoaneurysm of the left coronary artery at 64 years of age.

A Surgical Case of Right Coronary Ostial Stenosis, Aortic Regurgitation, and Annuloaortic Ectasia Associated with Syphilitic Aortitis / 日本心臓血管外科学会雑誌

<p>We report a case of syphilitic aortitis (SA) associated with severe right coronary ostial stenosis, aortic regurgitation (AR), and annuloaortic ectasia (AAE). A 48-year-old man presented to a regional hospital with easy fatigability and nocturnal dyspnea. Echocardiography revealed Seller's grade 3 AR. A computed tomography scan showed AAE, dilatation of the ascending aorta, and calcification of both coronary ostia. Coronary angiography demonstrated that the left coronary artery was intact ; however, the right coronary artery was obscure. Active syphilis was detected on routine blood tests on admission. Therefore, the patient was started on a course of ampicillin/sulbactam (ABPC/SBT). Subsequently, he underwent the Bentall procedure and coronary artery bypass grafting with the right internal thoracic artery. The intraoperative findings showed degeneration of the aorta and severe right coronary ostial stenosis. The pathological findings of the aortic wall and aortic valve were consistent with SA. The postoperative course was uneventful. The patient continued receiving ABPC/SBT for 3 weeks postoperatively, and was then switched to oral amoxicillin.</p>

Aortic root replacement for annuloaortic ectasia with a single coronary artery.

A single coronary artery, arising from the left sinus of Valsalva, associated with a bicuspid aortic valve and annuloaortic ectasia, is very rare. We report on a surgical case of bicuspid aortic valve regurgitation, annuloaortic ectasia, and dilation of the ascending aorta to the aortic arch in a patient with a single coronary artery. We successfully performed aortic root replacement with reimplantation of the single coronary artery and total arch replacement. The reimplantation of the coronary orifice required particular attention. Postoperative CT demonstrated the expected contours from the aortic annulus to the aortic arch with a patent implanted coronary artery.

Aortic root replacement with a valve-sparing technique for quadricuspid aortic valve.

A 67-year old man with ascending aortic aneurysm was referred because of a quadricuspid aortic valve. He underwent aortic root replacement with a valve-sparing technique. Under deep hypothermic circulatory arrest, replacement of the ascending aorta was successfully performed. The postoperative course was uneventful without recurrence of aortic regurgitation.

Simultaneous cusp-sparing aortic root replacement and coarctectomy with total arch replacement from the midline incision.

Four cases of simultaneous surgery for aortic root aneurysm with aortic regurgitation and coarctation of the aorta were presented. Age at surgery ranged from 18 to 37 years and all were male. All had annuloaortic ectasia and dilatation of the ascending aorta, 3 had bicuspid aortic valve and 1 had acute localized aortic dissection. Preoperative grade of aortic regurgitation was trivial in 1, moderate in 2 and severe in 1. Three had aortic valve-sparing root replacement with reimplantation technique and 1 had plication of the sinotubular junction. All patients had total arch replacement, coarctectomy and orthogonal anastomosis to the descending aorta. Antegrade cerebral perfusion was used for brain protection. All patients survived and postoperative pressure difference between the upper and lower extremities disappeared. Postoperative aortogram was satisfactory.

Aortic Root Replacement with a Valve Sparing Technique for Quadricuspid Aortic Valve / 日本心臓血管外科学会雑誌

A 67-year-old man with ascending aortic aneurysm was referred to our hospital. Transthoracic echocardiography showed severe aortic regurgitation with annuloaortic ectasia and transesophageal echocardiography revealed a quadricuspid aortic valve. This patient underwent aortic root replacement with a valve sparing technique. Under deep hypothermic circulatory arrest with retrograde cerebral perfusion, replacement of the ascending aorta was successfully performed. The postoperative course was uneventful. This patient is doing well 6 months after surgery without recurrence of aortic regurgitation.

Clinical Experience with the Bentall Procedure: 28 Years

PURPOSE: We retrospectively analyzed 28 years of experience with the Bentall procedure in patients with aortic valve, aortic root, and ascending aortic disease. MATERIALS AND METHODS: Between March 1982 and December 2010, a total of 218 patients underwent the Bentall procedure using a composite valved conduit. The "inclusion technique" was used in 30 patients (13.8%), the "open-button technique" in 181 patients (83.0%), and the Cabrol technique in 7 patients (3.2%). RESULTS: The early mortality rate was 5.5% (12/218). The mean follow-up duration was 108.0+/-81.0 months (range: 1-329 months). Seven patients required re-operation, and 1 patient required stent graft insertion at the descending thoracic aorta for progression of aortic arch or descending thoracic aortic dissection or aneurysm after the first operation, and 5 of them had Marfan syndrome. Kaplan-Meier estimated survival rates at 1, 5, 10, 20, and 25 years were 90.4%, 82.7%, 77.6%, 65.3%, and 60.3%, respectively. Freedom from reoperation rates at 1, 5, 10, 20, and 25 years were 99.0%, 98.3%, 95.5%, 90.8%, and 90.8%, respectively. CONCLUSION: In our experience, the Bentall procedure provided optimal survival with improved functional status. The disease of the aorta may progress, especially in patients with Marfan syndrome. Therefore, careful follow-up with regular computed tomography angiograms should be performed in these patients.

A Case of Aortic Root Replacement with a Left Main Trunk Patch Plasty / 日本心臓血管外科学会雑誌

A 63-year-old woman with annuloaortic ectasia and severe aortic regurgitation was referred to our hospital. Preoperative coronary angiography revealed 50% stenosis of the orifice of the left main trunk. She underwent aortic root replacement, but we were unable to insert a 12-gauge cannula into the orifice of the left coronary artery because of cardioplegia. Therefore, we decided to perform patch plasty of the left main trunk by a saphenous vein patch. Her postoperative course was uneventful, and postoperative computed tomography (CT) showed good expansion of the left main trunk without any evidence of aneurysm formation.