David Operation in a patient with LDS and beta-thalassemia minor: A Case Report

doi:10.21203/rs.3.rs-2316309/v1

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Case Report

David Operation in a patient with LDS and beta-thalassemia minor: A Case Report

https://doi.org/10.21203/rs.3.rs-2316309/v1

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Journal Publication

published 27 Aug, 2023

Read the published version in Journal of Cardiothoracic Surgery →

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We report about a 36-year-old European female patient who presented a growing ectasia of the ascending aorta of 40 mm, a sinus of valsalva of 47mm and a moderate aortic insufficiency. Also, she had an additional aneurysm in the truncus brachiocephalicus and multiple aneurysma in the arteria mammaria dextra. She was diagnosed as a Loeys-Dietz syndrome Typ RII because of a TGF-BETA receptor mutation. Additional she suffered from a beta-Thalassemia minor with hemoglobin levels of around 9 g/dL.

During cardiac surgery the patient had to be cooled to at least 30°C to perform open aortic arch operation safely. This case report describes the effects of cooling, rewarming and the use of the cardiopulmonary bypass (CPB) during an extensive operation in a patient with beta-thalassemia minor.

Loeys-Dietz-Syndrom

hypothermia

valve sparing root replacement

beta-thalassemia minor

cardiopulmonary bypass

The phenotype of the Loeys-Dietz-Syndrom (LDS) results in a generalized arterial tortuosity, a bifid uvula, hypertelorism and cleft palate. These clinical signs are associated with an overproduction of collagen, loss of elastin and disarray of elastic fibers. The structural changes result in a weakened vascular media leading to vasculare dilatation and dissection. Because of the genetic tissue disorders these patients have a higher risk for rupture or dissection of the aorta even in younger age and smaller aortic diameters. Early recognition, management and treatment must be the aim for these patients.[1]

Additionally, our patient inherited the beta thalassemia minor from her mother. Thalassemia belong to the pathologies of the hemoglobin. The disease is handed autosomal recessive and shows three different types. Because of the interruption in the way of building hemoglobin and a reduced or missing globin-chain-syntheses, the hemoglobin is reduced in these patients. The severe forms can lead to hemochromatosis, which is accompanied by cardiomyopathies, diastolic and systolic dysfunction of the right and left ventricle, arrhythmias and pericarditis, which is the main cause of death in older thalassemia patients. In patients with the intermedia form there is a higher risk to develop pulmonary and arterial hypertension because of the chronic hemolysis and the pro-thrombotic degenerated membrane of the erythrocytes.[2]

A 36-year-old European female patient represented with an ectasia of the ascending aorta of 40 mm, a sinus of valsalva of 47mm and a middle grade aortic insufficiency. Also, she had a second aneurysm in the truncus brachiocephalicus and multiple aneurysma in the arteria mammaria dextra. She was diagnosed as a Loeys-Dietz syndrome because of a TGF-BETA receptor mutation.

Her hemoglobin (Hb) the day before surgery was 9,3 g/dL, hematokrit (Hk): 30%, AT III activity 89%, transferritin saturation 13%, ferritin 11,9 ng/ml. On the day of surgery, hemoglobin: 10 g/dL, hematokrit: 30,9%, AT III activity 63%. the day after AT III activity raised to 74%, Fibrinogen 532, PTZ 88%, Hb 11,1 n/dL, Hk 33,3%.

In December 2019, she received a valve sparing aortic root replacement (VSARR), a replacement of the ascending aorta to the proximal aortic arch zone 2.

The aneurysms of the right mammary artery were excluded by multiple ligatures of the artery. During the whole operation cerebral control was performed using an In-Vivo Optical Spectroscopy (INVOS system, Medtronic Inc., USA) measuring the regional oxygen saturation (rSO₂) of the blood volume in the cerebral cortex. The arterial cannulation was performed via the ascending aorta and the venous cannulation through the right atrium. After the patient was cooled down to 29°C, the circulation was stopped and an antegrade brain perfusion was established through the truncus brachiocephalucus and the left carotid artery. Brain perfusion was controlled by INVOS measurement, which was about 25 to 30% rSO₂ at the beginning of the extracorporeal circulation (ECC) and 50% rSO₂ after administration of two blood units.

The circulatory arrest was 23 minutes, the aortic cross-clamp time 2h 31 minutes and the ECC 3h 14 minutes. She had a prolonged stay on the ICU of eight days and four additional blood units were transfused. After eleven days she left the hospital. The postoperative computertomography (CT) showed an excellent result. (Fig. 1)

In a study of the early experience of a few centers with LDS from Williams et al. report of 72 patients, 32 children and 39 adults. 6 died before the operation because of an aneurysm (smaller than 4,5 cm) rupture or intracerebral hemorrhage bleeding. They managed 30% by an operation, the rest received a medical treatment. 62% of the patients were diagnosed with LDS before the operation. The mean age was 16,3 +- 12.1 years, 24% of the patients had a previous cardiac surgery. Only one patient had an aortic valve incompetence. Most of them received a valve sparing root replacement (VSARR). One child who underwent a remodeling VSARR with arch replacement required a Bentall procedure because of aortic insufficiency 5 months after VSARR.[1]

Because of the LDS an aortic root dilatation can manifest in much younger patients and lead to a dissection or rupture of the aorta. For these patients, the surgical options are a composite root replacement or VSARR. Both methods achieve excellent long-term results and low mortality [3] [4][5]. Valo et al. could show excellent results of survival, freedom from recurrent aortic valve insufficiency and the need for reoperations even in high risk patients while using the VSARR. Their rate of postoperative complications in 78 patients: 3% had a stroke, prosthesis infection 1%, low cardiac output syndrome 1% and renal failure 3%. After 5 years 97% of the patient were still alive. [4] A best-evidence article from 2009 recommended the David operation for Marfan patients, acute aortic dissection and bicuspid aortic valves.[5] The advantage of VSARR is to avoid anticoagulation, which is often connected with lifestyle modification and restrictions. Also, it increases the risk of intraoperative bleedings especially in young patients with tissue disorder with a high risk for reoperation. Tweddell et al. suggest an earlier elective VSARR, when the sinus of valsalva reach 40mm in this patients.[3]

A brain protection strategy is essential for the operation on the ascending aorta and/or the aortic arch. Deep hypothermic circulatory arrest has an evidence level B according to the AHA guidelines even by using an antegrade or retrograde brain perfusion or in combination minimizes the brain injury. The range of temperature varies from 12 to 30°C by using the ECC. A too deep cooling increases the risk of arrhythmias. The retrograde brain perfusion is usually performed with a pressure of 20 to 40 mmHg and the antegrade perfusion pressure with 50 to 80 mmHg and a flow of 10ml/kg body weight/min). During the last 2 to 3 decades the perfusion strategies changed a lot. Deep hypothermic circulation arrest has been described successful in less than 40 minutes procedures. By using an antegrade cardioplegia through the truncus brachiocephalicus and the left carotid artery our patient showed no neurological deficits.

Most studies with antegrade arterial brain perfusion report outcomes that are comparable to or even better than those using hypothermic circulatory arrest alone or retrograde brain perfusion. Furthermore, antegrade brain perfusion may reduce the time of brain ischemia and permit less profound hypothermia, which is associated with better clinical outcomes. [6]

To the best of our knowledge, this is the first case report showing the effects of cooling in a patient with minor beta thalassemia and LSD. The INVOS measurements during the whole operation were stable and the patient showed a favorable neurological outcome, when erythrocyte concentrates were administered on time. The permanent antegrade perfusion in both carotids and the cooling to 29°C with the head down maneuver showed a sufficient brain protection and a safe cannulation strategy.

For patient with beta-thalassemia the approach of the intraoperative CPB is especially important to avoid hypoxia and anemia. The stress of the CPB on the erythrocytes can damage them and produce free hemoglobin. Exposure to negative pressure and the interface with air are the two major determinates of haemolysis generated by cardiotomy suction systems. To lower the morbidity, transfusion and the days of the ICU a good preoperative and intraoperative strategy is the key. As shown, VSARR is feasible also in this highly selected and endangered patient. However, special precautions have to be taken: For example, to preload the patients to a higher hematocrit, reduced blood suction and continuous ultrafiltration.

CPB

cardiopulmonary bypass

computertomography

ECC

extracorporeal circulation

INVOS

In-Vivo Optical Spectroscopy

LDS

Loeys-Dietz-Syndrom

rSO₂

regional oxygen saturation

TGF

transforming growth factor

VSARR

valve sparing aortic root replacement

Ethics approval and consent to participate

Not applicable

Consent for publication

Consente signed

Availability of data and materials

Data sharing is not applicable to this article as no datasets were generated or analysed during the current study

Competing interests

The authors declare that they have no competing interests

Williams, J.A., et al., Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg, 2007. 83(2): p. S757-63; discussion S785-90.
e.V., D.G.f.H.u.M.O. 15.04.2020]; Available from: https://www.onkopedia.com/de/onkopedia/guidelines/beta-thalassaemie/@@guideline/html/index.html.
Tweddell, J.S., et al., Valve-sparing aortic root reconstruction in children, teenagers, and young adults. Ann Thorac Surg, 2012. 94(2): p. 587-90; discussion 590-1.
Valo, J., et al., Expanding indications for valve-sparing aortic root reconstruction: early and midterm results. Ann Thorac Surg, 2013. 95(2): p. 579-85.
Tourmousoglou, C. and C. Rokkas, Is aortic valve-sparing operation or replacement with a composite graft the best option for aortic root and ascending aortic aneurysm? Interact Cardiovasc Thorac Surg, 2009. 8(1): p. 134-47.
Hiratzka, L.F., et al., 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease: executive summary. A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Catheter Cardiovasc Interv, 2010. 76(2): p. E43-86.

No competing interests reported.

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Journal Publication

published 27 Aug, 2023

Read the published version in Journal of Cardiothoracic Surgery →

Editorial decision: Major revision
02 Apr, 2023
Reviews received at journal
15 Jan, 2023
Reviewers agreed at journal
15 Jan, 2023
Reviewers invited by journal
15 Jan, 2023
Editor assigned by journal
02 Dec, 2022
Submission checks completed at journal
02 Dec, 2022
First submitted to journal
26 Nov, 2022

You are reading this latest preprint version

David Operation in a patient with LDS and beta-thalassemia minor: A Case Report

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Abstract

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Background

Case Representation

Discussion

Conclusion

Abbreviations

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References

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Journal Publication

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