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[Abstract] Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder, mostly caused by mutations in the fibrillin-1 (FBN1) gene. We, by using targeted next-generation sequence analysis, identified a novel intronic FBN1 mutation (the c.2678-15C>A variant) in a MFS patient with aortic dilatation. The computational predictions showed that the heterozygous c.2678-15C>A intronic variant might influence the splicing process by differentially affecting canonical versus cryptic splice site utilization within intron 22 of the FBN1 gene. RT-PCR and Western blot analyses, using FBN1 minigenes transfected into HeLa and COS-7 cells, revealed that the c.2678-15C>A variant disrupts normal splicing of intron 22 leading to aberrant 13-nt intron 22 inclusion, frameshift, and premature termination codon. Collectively, the results strongly suggest that the c.2678-15C>A variant could lead to haploinsufficiency of the FBN1 functional protein and structural connective tissue fragility in MFS complicated by aorta dilation, a finding that further expands on the genetic basis of aortic pathology.

Background: Cardiac surgery is associated with significant coagulopathy and bleeding. This has led to off-label Prothrombin Complex Conccentrate (PCC) use, despite minimal data regarding its efficacy in this setting. There have been retrospective studies investigating use of four-factor PCCs in Europe showing variable efficacy, however the only PCC available in Australia is Prothrombinex- VF, a three-factor PCC containing factors II, IX and X. Aim(s): We aimed to retrospectively review the perioperative off-label use of PCCs during cardiac surgery in our institution, to evaluate if PCC use reduced postoperative bleeding or transfusion requirements, and its effect on other clinical and laboratory parameters compared to patients who did not receive PCC. Method(s): A retrospective audit was performed, with the approval of the hospital Research Ethics Committee, of all patients undergoing cardiac surgery from 1st June 2012 to 31st December 2012. Data was collected via the hospital's cardiac surgery database and medical records. Result(s): 193 patients underwent cardiac surgery during the study period. 66 (34%) received PCC at a median dose of 22 IU/kg. There was a significant reduction in the INR (medain INR reduced from 1.5 pre-PCC to 1.3 post-PCC), with the change in INR greatest for patients with the highest pre-PCC INRs), but no change to APTT following PCC use. Post-operative blood loss, as measured by the 4-hour chest drain output, was comparable to international studies and did not decrease significantly with PCC (290mL versus 270mL, p=0.29). The PCC group also had higher transfusion requirements, including more red blood cells (median 4 units versus 0 units), more platelet transfusions (median 2 bags versus 0), more Fresh Frozen Plasma (both receiving a median of no units however the PCC group had a greater IQR of 0-2 units), and more cryoprecipitate transfusions (median 3.5 units versus 0) (p <0.0001). These results were, however, potentially confounded by long

Background: Cardiac surgery is associated with significant coagulopathy and bleeding. This has led to off-label Prothrombin Complex Conccentrate (PCC) use, despite minimal data regarding its efficacy in this setting. There have been retrospective studies investigating use of four-factor PCCs in Europe showing variable efficacy, however the only PCC available in Australia is Prothrombinex- VF, a three-factor PCC containing factors II, IX and X. Aim(s): We aimed to retrospectively review the perioperative off-label use of PCCs during cardiac surgery in our institution, to evaluate if PCC use reduced postoperative bleeding or transfusion requirements, and its effect on other clinical and laboratory parameters compared to patients who did not receive PCC. Method(s): A retrospective audit was performed, with the approval of the hospital Research Ethics Committee, of all patients undergoing cardiac surgery from 1st June 2012 to 31st December 2012. Data was collected via the hospital's cardiac surgery database and medical records. Result(s): 193 patients underwent cardiac surgery during the study period. 66 (34%) received PCC at a median dose of 22 IU/kg. There was a significant reduction in the INR (medain INR reduced from 1.5 pre-PCC to 1.3 post-PCC), with the change in INR greatest for patients with the highest pre-PCC INRs), but no change to APTT following PCC use. Post-operative blood loss, as measured by the 4-hour chest drain output, was comparable to international studies and did not decrease significantly with PCC (290mL versus 270mL, p=0.29). The PCC group also had higher transfusion requirements, including more red blood cells (median 4 units versus 0 units), more platelet transfusions (median 2 bags versus 0), more Fresh Frozen Plasma (both receiving a median of no units however the PCC group had a greater IQR of 0-2 units), and more cryoprecipitate transfusions (median 3.5 units versus 0) (p <0.0001). These results were, however, potentially confounded by long

Background: In women under the age of 40, over 50% of type A aortic dissections occur in the obstetric population. This is a complex situation, with potential catastrophic outcomes for mother and child. Time to diagnosis is often delayed by a low degree of suspicion, atypical presentation and difficulties investigating pregnant women. Management requires early involvement of multiple teams and appreciation of potential complications. We report our experience (the largest series described) and describe our surgical strategy. Method(s): A retrospective search of the cardiothoracic surgical database at our centre from 2002 to 2010 identified five pregnant women with type A dissections. Result(s): Median time to diagnosis was 18.5. h (range 5.5-150. h) and median time from diagnosis to arrival in the operating theatre was 1.5. h (range 0.5-54. h). Four patients underwent concomitant Caesarean section and dissection repair. There was one maternal death and one unrelated foetal death. Conclusion(s): Occurrence of type A aortic dissection in pregnant women is uncommon but potentially catastrophic. A high index of suspicion and timely investigations are necessary to expedite definitive management. Sound surgical strategies and collaboration with appropriate teams are necessary to optimise outcome. © 2012 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ).

After the advent of ECG gated cardiac CT angiography (CCTA) there has been significant improvement in image quality of the ascending aorta. As a result the sinuses of valsalva are readily assessable. Sinuses of valsalva aneurysm can cause significant dysfunction of the aortic root and annulus and can be congenital or acquired. The aneurysm most commonly originates from the right coronary sinus. Complications related to sinuses of valsalva aneurysm can cause chest pain and can be life threatening. The cardiac imager should actively assess the sinuses of valsalva in every CCTA study. © 2012 The Authors.

Background: In women under the age of 40, over 50% of type A aortic dissections occur in the obstetric population. This is a complex situation, with potential catastrophic outcomes for mother and child. Time to diagnosis is often delayed by a low degree of suspicion, atypical presentation and difficulties investigating pregnant women. Management requires early involvement of multiple teams and appreciation of potential complications. We report our experience (the largest series described) and describe our surgical strategy. Method(s): A retrospective search of the cardiothoracic surgical database at our centre from 2002 to 2010 identified five pregnant women with type A dissections. Result(s): Median time to diagnosis was 18.5. h (range 5.5-150. h) and median time from diagnosis to arrival in the operating theatre was 1.5. h (range 0.5-54. h). Four patients underwent concomitant Caesarean section and dissection repair. There was one maternal death and one unrelated foetal death. Conclusion(s): Occurrence of type A aortic dissection in pregnant women is uncommon but potentially catastrophic. A high index of suspicion and timely investigations are necessary to expedite definitive management. Sound surgical strategies and collaboration with appropriate teams are necessary to optimise outcome. © 2012 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ).

After the advent of ECG gated cardiac CT angiography (CCTA) there has been significant improvement in image quality of the ascending aorta. As a result the sinuses of valsalva are readily assessable. Sinuses of valsalva aneurysm can cause significant dysfunction of the aortic root and annulus and can be congenital or acquired. The aneurysm most commonly originates from the right coronary sinus. Complications related to sinuses of valsalva aneurysm can cause chest pain and can be life threatening. The cardiac imager should actively assess the sinuses of valsalva in every CCTA study. © 2012 The Authors.

Background: Acute type-A aortic dissection is a surgical emergency. One unit's experience in the surgical repair of type-A aortic dissection is documented. Method(s): Surgical treatment was undertaken for type-A aortic dissection in 32 consecutive patients between January 1988 and August 1994 at Royal North Shore Hospital. Retrosternal chest pain was the commonest presenting symptom and in four of these cases it was initially misinterpreted as myocardial ischaemia. Result(s): A total of 24 patients had signs of aortic incompetence on presentation. Computed tomography (CT) scanning was the commonest modality of definitive diagnosis, but trans-oesophageal echocardiography was used as confirmation wherever possible, and we now consider it the initial, best investigation whenever a diagnosis of dissection is considered. There were 15 supra-coronary ascending aortic replacements, and a further four with aortic valve re-suspension. There were 13 operations of the Bentall's type. The overall 30-day mortality was 19%. The late mortality was 19%, with 62% long-term survival at a mean follow-up of 4.8 years. Conclusion(s): Early diagnosis and surgical intervention can give excellent palliation and improved life expectancy in acute type A aortic dissection.

Background: Acute type-A aortic dissection is a surgical emergency. One unit's experience in the surgical repair of type-A aortic dissection is documented. Method(s): Surgical treatment was undertaken for type-A aortic dissection in 32 consecutive patients between January 1988 and August 1994 at Royal North Shore Hospital. Retrosternal chest pain was the commonest presenting symptom and in four of these cases it was initially misinterpreted as myocardial ischaemia. Result(s): A total of 24 patients had signs of aortic incompetence on presentation. Computed tomography (CT) scanning was the commonest modality of definitive diagnosis, but trans-oesophageal echocardiography was used as confirmation wherever possible, and we now consider it the initial, best investigation whenever a diagnosis of dissection is considered. There were 15 supra-coronary ascending aortic replacements, and a further four with aortic valve re-suspension. There were 13 operations of the Bentall's type. The overall 30-day mortality was 19%. The late mortality was 19%, with 62% long-term survival at a mean follow-up of 4.8 years. Conclusion(s): Early diagnosis and surgical intervention can give excellent palliation and improved life expectancy in acute type A aortic dissection.

Background: Abdominal aortic aneurysms (AAA) repairs are routine operations with low mortality in the developed world. There are few studies on the operative management of AAA in the Asian population. This study reports the initial results from a unit with no previous experience in this surgery by a single surgeon on completion of training. Method(s): All patients with AAA repair from a prospective database between 1996 and 1999 in the south-east Asian state of Sarawak in Borneo Island were analyzed. Three groups were identified on presentation according to clinical urgency of surgery. Elective surgery was offered to all good risk patients with AAA of >= 5 cm. All symptomatic patients were offered surgery unless contraindicated medically. Result(s): AAA repairs were performed in 69 patients: 32 (46%) had elective repairs of asymptomatic AAA; 20 (29%) had urgent surgery for symptomatic non-ruptured AAA; and 17 (25%) had surgery for ruptured AAA. The mortality rate for elective surgery was 6%; the two deaths occurred early in the series with the subsequent 25 repairs recorded no further mortality. The mortality rates for the urgent, symptomatic non-ruptured AAA repair and ruptured AAA repair were 20% and 35%, respectively. Cardiac and respiratory complications were the main morbidities. Sixty-three patients seen during this period had no surgery; three presented and died of ruptured AAA, 34 had AAA of <= 5 cm in diameter, and 26 with AAA of >= 5 cm diameter had either no consent for surgery or serious medical contraindications. Conclusion(s): This study showed that AAA can be repaired safely by highly motivated and adequately trained surgeons in a hospital with little previous experience.

Background: Abdominal aortic aneurysms (AAA) repairs are routine operations with low mortality in the developed world. There are few studies on the operative management of AAA in the Asian population. This study reports the initial results from a unit with no previous experience in this surgery by a single surgeon on completion of training. Method(s): All patients with AAA repair from a prospective database between 1996 and 1999 in the south-east Asian state of Sarawak in Borneo Island were analyzed. Three groups were identified on presentation according to clinical urgency of surgery. Elective surgery was offered to all good risk patients with AAA of >= 5 cm. All symptomatic patients were offered surgery unless contraindicated medically. Result(s): AAA repairs were performed in 69 patients: 32 (46%) had elective repairs of asymptomatic AAA; 20 (29%) had urgent surgery for symptomatic non-ruptured AAA; and 17 (25%) had surgery for ruptured AAA. The mortality rate for elective surgery was 6%; the two deaths occurred early in the series with the subsequent 25 repairs recorded no further mortality. The mortality rates for the urgent, symptomatic non-ruptured AAA repair and ruptured AAA repair were 20% and 35%, respectively. Cardiac and respiratory complications were the main morbidities. Sixty-three patients seen during this period had no surgery; three presented and died of ruptured AAA, 34 had AAA of <= 5 cm in diameter, and 26 with AAA of >= 5 cm diameter had either no consent for surgery or serious medical contraindications. Conclusion(s): This study showed that AAA can be repaired safely by highly motivated and adequately trained surgeons in a hospital with little previous experience.