scholarly journals Surgical Management of Intraoperative Aortic Dissection in Type 3 Loeys-Dietz Syndrome with MYH11 Co-Mutation

2021 ◽  
Vol 24 (2) ◽  
pp. E231-E232
Author(s):  
Fumiya Yoneyama ◽  
Hideyuki Kato ◽  
Bryan Mathis ◽  
Yuji Hiramatsu
Keyword(s):  
Aortic Dissection ◽  
Aortic Arch ◽  
Gene Mutation ◽  
Surgical Management ◽  
Dissecting Aneurysm ◽  
Rapid Progression ◽  
Syndrome Type ◽  
Contingency Plans ◽  
Type 3

A 57-year-old female with Loeys-Dietz syndrome type 3 and MYH11 gene mutation underwent unexpected intraoperative ascending aortic dissection and subsequent rapid progression of the aortic arch dissecting aneurysm. Intra-surgical contingency plans with regard to aortic dissection and aneurysm should be considered for Loeys-Dietz syndrome, especially with comorbid mutations.

Identification of a Novel CLRN1 Gene Mutation in Usher Syndrome Type 3

2015 ◽  
Vol 124 (1_suppl) ◽  
pp. 94S-99S ◽  
Author(s):  
Hidekane Yoshimura ◽  
Chie Oshikawa ◽  
Jun Nakayama ◽  
Hideaki Moteki ◽  
Shin-ichi Usami
Keyword(s):  
Gene Mutation ◽  
Mutation Screening ◽  
Usher Syndrome ◽  
Japanese Patients ◽  
Pathogenic Mutation ◽  
Clinical Findings ◽  
Syndrome Type ◽  
Asian Populations ◽  
Type 3 ◽  
Usher Syndrome Type

Objective: This study examines the CLRN1 gene mutation analysis in Japanese patients who were diagnosed with Usher syndrome type 3 (USH3) on the basis of clinical findings. Methods: Genetic analysis using massively parallel DNA sequencing (MPS) was conducted to search for 9 causative USH genes in 2 USH3 patients. Results: We identified the novel pathogenic mutation in the CLRN1 gene in 2 patients. The missense mutation was confirmed by functional prediction software and segregation analysis. Both patients were diagnosed as having USH3 caused by the CLRN1 gene mutation. Conclusion: This is the first report of USH3 with a CLRN1 gene mutation in Asian populations. Validating the presence of clinical findings is imperative for properly differentiating among USH subtypes. In addition, mutation screening using MPS enables the identification of causative mutations in USH. The clinical diagnosis of this phenotypically variable disease can then be confirmed.

scholarly journals A penetrating atherosclerotic ulcer rapidly growing into a saccular aortic aneurysm during treatment of leukaemia: a case report

2021 ◽  
Vol 5 (7) ◽  
Author(s):  
Shinsuke Takeuchi ◽  
Nobuyuki Takayama ◽  
Kyoko Soejima ◽  
Hideaki Yoshino
Keyword(s):  
Aortic Aneurysm ◽  
Aortic Dissection ◽  
Aortic Arch ◽  
Aortic Rupture ◽  
Miliary Tuberculosis ◽  
Atherosclerotic Lesion ◽  
Type A ◽  
Aortic Disease ◽  
Lumbar Pain ◽  
Rapid Progression

Abstract Background The clinical course of penetrating atherosclerotic ulcers is variable and can be complicated with intramural haematomas, dissection, pseudoaneurysms, or aortic rupture. Because it can lead to life-threatening conditions, it needs to be managed carefully. Case summary A 68-year-old woman, who was treated for acute myeloid leukaemia (subtype: M0-FAB) approximately 1 year before presentation, visited the hospital with complaints of a headache and lumbar pain. After hospitalization, investigations revealed miliary tuberculosis. On the same day, she developed a Stanford type A acute aortic dissection (AAD) with cardiac tamponade; during the course of the previous leukaemia treatment, a small ulcerative lesion at the distal aortic arch grew into a small saccular aortic aneurysm (SAA) that expanded rapidly and finally developed into a Stanford type A AAD. However, the relationship between the SAA and aortic dissection could not be confirmed. Discussion The chronological changes in the atherosclerotic lesion at the distal aortic arch could be clearly observed because computed tomography scans were repeatedly obtained until just before the onset of AAD. The rapid progression of atherosclerotic lesions in the unique context of leukaemia treatment and miliary tuberculosis was considered to be a pathological characteristic, and the mechanism underlying this process was investigated. Clinicians should be aware of the aortic complications that may progress under special circumstances, such as anthracycline use or immunodeficiency. Careful observation is mandatory for patients with aortic disease.

Successful carotid artery stenting in patients with aortic dissection

2020 ◽  
Keyword(s):  
Ischemic Stroke ◽  
Carotid Artery ◽  
Aortic Dissection ◽  
Cerebral Infarction ◽  
Acute Ischemic Stroke ◽  
Aortic Arch ◽  
Common Carotid Artery ◽  
Carotid Artery Stenting ◽  
Acute Aortic Dissection ◽  
Optimal Timing

Background: There are no guidelines for the optimal timing of surgery (emergency vs. delayed) for ascending aortic dissection with acute ischemic stroke. We retrospectively compared the prognoses and radiological and clinical findings for concomitant aortic dissection and ischemic stroke in a series of case reports. Case presentation: Three patients presented with left hemiparesis. Patient 1 underwent surgery for acute aortic dissection without treatment for acute ischemic stroke. In Patient 2, emergency stenting could not be performed due to cardiac tamponade and hypotension. Therefore, emergency acute aortic dissection surgery was performed. Patient 3 underwent emergency right common carotid artery stenting followed by surgery for acute aortic dissection. Brain perfusion computed tomography angiography (CTA) was performed to diagnose severe stenosis of the right common carotid artery or occlusion concomitant with acute aortic dissection involving the aortic arch with a cerebral perfusion mismatch in all the patients. Patient 3 had postoperative local cerebral infarction, whereas patients 1 and 2 (without stent insertion) had extensive postoperative cerebral infarction. Conclusion: Patient 3 showed a better prognosis than patients without stent treatment. We suggest that perfusion CTA of the aortic arch in suspected acute ischemic stroke can facilitate early diagnosis and prompt treatment in similar patients.

scholarly journals Aortic Aneurysm and Dissection in Pregnancy: Report of a Rare Case in a Marfan with Bicuspid Aortic Valve

2020 ◽  
Vol 5 (04) ◽  
pp. 331-334
Author(s):  
Paolo Masiello ◽  
Rocco Leone ◽  
Rossella Maria Benvenga ◽  
Severino Iesu
Keyword(s):  
Aortic Valve ◽  
Aortic Dissection ◽  
Aortic Arch ◽  
Bicuspid Aortic Valve ◽  
Rare Case ◽  
Unplanned Pregnancy ◽  
Type A ◽  
Cardiac Biomarkers ◽  
High Morbidity ◽  
Type A Aortic Dissection

Abstract Background Type A aortic dissection is an emergency with high morbidity and mortality when surgery is not performed. Few cases are described in the literature about aortic dissection during pregnancy. A correlation between pregnancy and aortic dissection is mainly reported in patients with family history and connective tissue disorders, such as Marfan’s syndrome (MS), Loeys–Dietz’s syndrome, and Ehlers–Danlos’s syndromes, and patients with bicuspid aortic valve (BAV); exceptional cases are also described in patients without risk factors. Case presentation A 22-year-old young woman with MS, ascending aorta dilation, and BAV became pregnant. During labor, she experienced a short-term chest pain with spontaneous resolution. The electrocardiogram (ECG) and cardiac biomarkers were negative for acute coronary artery disease, but no transthoracic echocardiogram (TTE) was performed. A caesarean section was performed without complications. After 1 month, a routine TTE showed a chronic ascending aortic dissection involving the aortic arch and supra-aortic vessels. Due to a normally functioning aortic valve, the David operation was performed (sparing aortic valve) with the replacement of the aortic arch and supra-aortic vessels. Conclusions Aortic dissection is a rare cardiovascular complication that can occur during pregnancy and is associated with very high-risk mortality. We have reported a rare case of undiagnosed type A aortic dissection involving the aortic arch during unplanned pregnancy in patients with BAV and MS, subsequently treated with the David surgery and replacement of ascending aortic arch and supra-aortic vessels. A closer clinical and instrumental follow-up is necessary in this particular group of patients at risk. Awareness of all physicians involved is mandatory.

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