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Unmasking of Sick Sinus Syndrome Using Flecainide in a Patient with SCN5a Mutation and Overlap Syndrome
Abstracts
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. The change in results over time is graphed in the figure ... .. below: .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. . Conclusion: Transition to NGS has resulted in an increase ... . in the number of mutation tests ordered over time. Though ... overall the rate of positive mutation detection has increased, ... . the most striking change is the increased likelihood of ... finding a VUS. This highlights the challenges facing car- ... . diac genetic testing and the importance of testing within ... a clinical context and with the input of a multidisciplinary ... .. clinic. .. .. .. .. http://dx.doi.org/10.1016/j.hlc.2016.06.669 .. .. 668 ... .. .. Undiagnosed Systemic Mastocytosis .. .. Causing Recurrent Syncope and PEA .. .. Arrests .. .. ∗ .. E. Paratz , N. Khav, A. Burns .. .. .. St Vincent’s Hospital, Melbourne, Australia .. .. A 72-year-old male with hypertension, pruritus, and occa- ... . sional reflux reported long-standing unexplained syncope. ... . Stress echocardiography demonstrated inducible anterior .. . hypokinesis, and he underwent percutaneous coronary inter- ... . vention for an 80% stenosis of the left anterior descending ... ... artery. . Thirty minutes post-procedure, he experienced a pulseless ... electrical activity (PEA) arrest without ECG changes. CPR was ... . performed with a mechanical device for 90 minutes. Urgent ... repeat angiography demonstrated profound coronary artery ... . spasm; the LCx and LAD were ballooned, and nitrates and ... adrenaline administered. Anaphylaxis was considered the ... . likely diagnosis. Our patient recovered and was well for three ... .. days, when a second unexplained PEA arrest occurred. .. Elevated serial event and basal tryptases led to suspi- ... . cion of systemic mastocytosis as the underlying diagnosis. ... .
Bone marrow biopsy revealed a hypercellular bone marrow with increased mast cells on tryptase stain, and cytogenetics demonstrated positive D816V c-KIT mutation. Our patient commenced sodium cromoglycate, cetirizine, and ranitidine. His admission was significantly prolonged by multi-organ complications of his cardiac arrests. He was ultimately discharged home on day 56 post-arrest, has made an excellent functional recovery and had no further episodes of syncope at nine months post-discharge. Systemic mastocytosis is the pathological accumulation of mast cells in organs. It is a recognised cause of life-threatening syncope and PEA arrests, and estimated to affect 1 in 10,000 people. Stressors such as coronary angiography may precipitate mass mast cell degranulation and cardiac arrest. In the setting of unexplained cardiac arrest, tryptase levels should be measured and systemic mastocytosis considered as a diagnosis. http://dx.doi.org/10.1016/j.hlc.2016.06.670 669 Unmasking of Sick Sinus Syndrome Using Flecainide in a Patient with SCN5a Mutation and Overlap Syndrome G. Wong ∗ , R. Roberts-Thomson, A. Nelson, S. Parvar, G. Young, P. Sanders, K. Roberts-Thomson Centre for Heart Rhythm Disorders, University of Adelaide, Royal Adelaide Hospital, Adelaide, Australia Loss of function SCNa mutations are known to cause disease entities such as long QT syndrome type 3, Brugada Syndrome (BrS), sick sinus syndrome (SSS), atrial fibrillation and mixed feature overlap syndromes. Flecainide challenges are a useful diagnostic tool in unmasking ECG changes in patients with BrS but have not been used extensively for SSS. We present the case of a 45-year-old female paramedic who presented with symptomatic RVOT VT and normal ECG at baseline. She was initially managed with beta blocker therapy. She had ongoing symptoms and flecainide was considered but a flecainide challenge was performed as she had a strong family history of sick sinus syndrome requiring pacemaker insertion in her father and two brothers. TTE and cardiac MRI revealed a structurally normal heart. A 140mg flecainide challenge showed no diagnostic changes for BrS. 20 minutes following the flecainide administration, she experienced multiple symptomatic sinus arrest pauses up to 4.5 seconds for 5-10 minutes (Figure). These episodes of sinus arrest resolved over 2 hours and the patient was discharged after monitoring. Genetic testing confirmed she was heterozygous for a SCN5A mutation c.[3319G>T]. Interestingly, subsequent follow-up ECGs demonstrated changes diagnostic of BrS. Holter monitors have not shown any further evidence of pauses and she has not required pacing. SCN5a mutations may cause overlap syndromes with LQT3, BrS and SSS. Flecainide may unmask sinus node dysfunction in asymptomatic patients. Flecainide challenge may be useful in screening families with possible SCN5a related SSS.
Abstracts
http://dx.doi.org/10.1016/j.hlc.2016.06.671 Cardiac Surgery (670–699) 670 A Case of Aortic Mural Thrombus in the Absence of Atherosclerotic or Aneurysmal Disease K. Haji 1,∗ , V. Heron 2 , R. Davis 2 , D. Nandurkar 2 , A. Kelman 3 , A. Miller 2 1 Monash
Cardiovascular Research Centre, MonashHEART, Monash Health and Monash University Department of Medicine (MMC), Melbourne, Australia 2 Monash Health, Department of General Medicine, Melbourne, Australia 3 Monash Health, Department of Radiology, Melbourne, Australia Case report: A 45-year-old woman presented to our hospital with increasing dyspnoea. Her past history was of Type-2 Diabetes Mellitus with known microvascular complications, hypertension and recent menorrhagia complicated by iron deficiency anaemia for which she had been commenced on norethisterone three weeks prior. History and clinical examination was highly suspicious of pulmonary embolism. A Computed Tomography Pulmonary Angiography (CTPA) was performed, which confirmed multiple bilateral pulmonary emboli. In addition there was an incidental lobulated filling defect measuring 2.2 x 2.1 x 5.6cm within the descending thoracic aorta arising at the distal aortic arch. Fig 1.a A limited thrombophilia screen was negative and MRI was most suggestive of a bland thrombus without an underlying vessel abnormality and Positron Emission Tomography showed no pathological uptake within the lesion or elsewhere suggesting malignancy. See fig 1 b,c. Given the high risk of systemic emboli a decision was made to proceed to surgical removal. An uneventful replacement of the descending aorta while on cardiopulmonary bypass was performed with a 85mm x 30mm x 25mm thrombus removed. She was discharged home on warfarin. Discussion: An aortic mural thrombus (AMT) that develops in the absence of atherosclerotic or aneurysmal disease is a rare and incompletely understood. In most cases
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described in the limited literature available there was an undiagnosed hypercoagulable state. In our case there was no atherosclerosis, there was no malignancy and the thrombophilia screen was negative. However, other factors may have contributed like iron deficiency and norethisterone.
Figure 1 http://dx.doi.org/10.1016/j.hlc.2016.06.672 671 A Presentation of Single Centre Data on Aortic Valve Surgery in an Octogenarian Population Group S. Moss ∗ , M. Doyle, C. Villanueva St George Hospital, Kogarah, Australia Background: Percutaneous and minimally-invasive aortic valve surgery is increasingly available to geriatrics with aortic stenosis, with potential to reduce hospital length of stay and associated morbidity. The aim of this study was to evaluate early clinical outcomes of very elderly patients undergoing surgical aortic valve replacement (SAVR) via median sternotomy; and assess the impact of surgery on discharge destination. Methods: A retrospective observational study involving 57 consecutive octogenarians who underwent aortic valvular surgery between 2011 and 2014. The study assessed preoperative co-morbidities and postoperative outcomes, concluding in short-term mortality. EUROSCORE II online calculator was used for risk stratification. Results: The average age of patients was 82.6 years (±2.94). Operations performed included: isolated AVRs in 41.3%, AVR and Coronary Artery Bypass Grafting (CABG) in 48.2%, and 10.3% as others. Average EUROSCORE II was 7.46 (±6.38). The median length of hospital stay was 10 days. Postoperatively, 3.4% of patients had a cerebrovascular event. Permanent pacemaker insertion was required in 6.9%. Ventilation and ionotropes for greater than 24 hours was required in 15.5% and 34.4%, respectively. Discharge home was seen in 74.1% of patients, 18.9% required in-hospital
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. The change in results over time is graphed in the figure ... .. below: .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. .. . Conclusion: Transition to NGS has resulted in an increase ... . in the number of mutation tests ordered over time. Though ... overall the rate of positive mutation detection has increased, ... . the most striking change is the increased likelihood of ... finding a VUS. This highlights the challenges facing car- ... . diac genetic testing and the importance of testing within ... a clinical context and with the input of a multidisciplinary ... .. clinic. .. .. .. .. http://dx.doi.org/10.1016/j.hlc.2016.06.669 .. .. 668 ... .. .. Undiagnosed Systemic Mastocytosis .. .. Causing Recurrent Syncope and PEA .. .. Arrests .. .. ∗ .. E. Paratz , N. Khav, A. Burns .. .. .. St Vincent’s Hospital, Melbourne, Australia .. .. A 72-year-old male with hypertension, pruritus, and occa- ... . sional reflux reported long-standing unexplained syncope. ... . Stress echocardiography demonstrated inducible anterior .. . hypokinesis, and he underwent percutaneous coronary inter- ... . vention for an 80% stenosis of the left anterior descending ... ... artery. . Thirty minutes post-procedure, he experienced a pulseless ... electrical activity (PEA) arrest without ECG changes. CPR was ... . performed with a mechanical device for 90 minutes. Urgent ... repeat angiography demonstrated profound coronary artery ... . spasm; the LCx and LAD were ballooned, and nitrates and ... adrenaline administered. Anaphylaxis was considered the ... . likely diagnosis. Our patient recovered and was well for three ... .. days, when a second unexplained PEA arrest occurred. .. Elevated serial event and basal tryptases led to suspi- ... . cion of systemic mastocytosis as the underlying diagnosis. ... .
Bone marrow biopsy revealed a hypercellular bone marrow with increased mast cells on tryptase stain, and cytogenetics demonstrated positive D816V c-KIT mutation. Our patient commenced sodium cromoglycate, cetirizine, and ranitidine. His admission was significantly prolonged by multi-organ complications of his cardiac arrests. He was ultimately discharged home on day 56 post-arrest, has made an excellent functional recovery and had no further episodes of syncope at nine months post-discharge. Systemic mastocytosis is the pathological accumulation of mast cells in organs. It is a recognised cause of life-threatening syncope and PEA arrests, and estimated to affect 1 in 10,000 people. Stressors such as coronary angiography may precipitate mass mast cell degranulation and cardiac arrest. In the setting of unexplained cardiac arrest, tryptase levels should be measured and systemic mastocytosis considered as a diagnosis. http://dx.doi.org/10.1016/j.hlc.2016.06.670 669 Unmasking of Sick Sinus Syndrome Using Flecainide in a Patient with SCN5a Mutation and Overlap Syndrome G. Wong ∗ , R. Roberts-Thomson, A. Nelson, S. Parvar, G. Young, P. Sanders, K. Roberts-Thomson Centre for Heart Rhythm Disorders, University of Adelaide, Royal Adelaide Hospital, Adelaide, Australia Loss of function SCNa mutations are known to cause disease entities such as long QT syndrome type 3, Brugada Syndrome (BrS), sick sinus syndrome (SSS), atrial fibrillation and mixed feature overlap syndromes. Flecainide challenges are a useful diagnostic tool in unmasking ECG changes in patients with BrS but have not been used extensively for SSS. We present the case of a 45-year-old female paramedic who presented with symptomatic RVOT VT and normal ECG at baseline. She was initially managed with beta blocker therapy. She had ongoing symptoms and flecainide was considered but a flecainide challenge was performed as she had a strong family history of sick sinus syndrome requiring pacemaker insertion in her father and two brothers. TTE and cardiac MRI revealed a structurally normal heart. A 140mg flecainide challenge showed no diagnostic changes for BrS. 20 minutes following the flecainide administration, she experienced multiple symptomatic sinus arrest pauses up to 4.5 seconds for 5-10 minutes (Figure). These episodes of sinus arrest resolved over 2 hours and the patient was discharged after monitoring. Genetic testing confirmed she was heterozygous for a SCN5A mutation c.[3319G>T]. Interestingly, subsequent follow-up ECGs demonstrated changes diagnostic of BrS. Holter monitors have not shown any further evidence of pauses and she has not required pacing. SCN5a mutations may cause overlap syndromes with LQT3, BrS and SSS. Flecainide may unmask sinus node dysfunction in asymptomatic patients. Flecainide challenge may be useful in screening families with possible SCN5a related SSS.
Abstracts
http://dx.doi.org/10.1016/j.hlc.2016.06.671 Cardiac Surgery (670–699) 670 A Case of Aortic Mural Thrombus in the Absence of Atherosclerotic or Aneurysmal Disease K. Haji 1,∗ , V. Heron 2 , R. Davis 2 , D. Nandurkar 2 , A. Kelman 3 , A. Miller 2 1 Monash
Cardiovascular Research Centre, MonashHEART, Monash Health and Monash University Department of Medicine (MMC), Melbourne, Australia 2 Monash Health, Department of General Medicine, Melbourne, Australia 3 Monash Health, Department of Radiology, Melbourne, Australia Case report: A 45-year-old woman presented to our hospital with increasing dyspnoea. Her past history was of Type-2 Diabetes Mellitus with known microvascular complications, hypertension and recent menorrhagia complicated by iron deficiency anaemia for which she had been commenced on norethisterone three weeks prior. History and clinical examination was highly suspicious of pulmonary embolism. A Computed Tomography Pulmonary Angiography (CTPA) was performed, which confirmed multiple bilateral pulmonary emboli. In addition there was an incidental lobulated filling defect measuring 2.2 x 2.1 x 5.6cm within the descending thoracic aorta arising at the distal aortic arch. Fig 1.a A limited thrombophilia screen was negative and MRI was most suggestive of a bland thrombus without an underlying vessel abnormality and Positron Emission Tomography showed no pathological uptake within the lesion or elsewhere suggesting malignancy. See fig 1 b,c. Given the high risk of systemic emboli a decision was made to proceed to surgical removal. An uneventful replacement of the descending aorta while on cardiopulmonary bypass was performed with a 85mm x 30mm x 25mm thrombus removed. She was discharged home on warfarin. Discussion: An aortic mural thrombus (AMT) that develops in the absence of atherosclerotic or aneurysmal disease is a rare and incompletely understood. In most cases
S287
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described in the limited literature available there was an undiagnosed hypercoagulable state. In our case there was no atherosclerosis, there was no malignancy and the thrombophilia screen was negative. However, other factors may have contributed like iron deficiency and norethisterone.
Figure 1 http://dx.doi.org/10.1016/j.hlc.2016.06.672 671 A Presentation of Single Centre Data on Aortic Valve Surgery in an Octogenarian Population Group S. Moss ∗ , M. Doyle, C. Villanueva St George Hospital, Kogarah, Australia Background: Percutaneous and minimally-invasive aortic valve surgery is increasingly available to geriatrics with aortic stenosis, with potential to reduce hospital length of stay and associated morbidity. The aim of this study was to evaluate early clinical outcomes of very elderly patients undergoing surgical aortic valve replacement (SAVR) via median sternotomy; and assess the impact of surgery on discharge destination. Methods: A retrospective observational study involving 57 consecutive octogenarians who underwent aortic valvular surgery between 2011 and 2014. The study assessed preoperative co-morbidities and postoperative outcomes, concluding in short-term mortality. EUROSCORE II online calculator was used for risk stratification. Results: The average age of patients was 82.6 years (±2.94). Operations performed included: isolated AVRs in 41.3%, AVR and Coronary Artery Bypass Grafting (CABG) in 48.2%, and 10.3% as others. Average EUROSCORE II was 7.46 (±6.38). The median length of hospital stay was 10 days. Postoperatively, 3.4% of patients had a cerebrovascular event. Permanent pacemaker insertion was required in 6.9%. Ventilation and ionotropes for greater than 24 hours was required in 15.5% and 34.4%, respectively. Discharge home was seen in 74.1% of patients, 18.9% required in-hospital