A 19-year-old female with a 2-day history of involuntary fast jerk-like movements of the left upper and lower extremities presented at the emergency department. Patient had no other known comorbidities and family history was unremarkable. Anti-streptolysin O titer (ASO) and C-reactive protein (CRP) were all normal. Two-dimensional echocardiography (2D Echo) revealed thickened anterior mitral valve leaflet with prolapsed A2 scallop, mild mitral regurgitation, thickened right coronary cusp of aortic valve without restriction of motion, trivial aortic regurgitation, other findings were unremarkable. Patient was managed as a case of Sydenham’s chorea secondary to acute rheumatic fever, with valvular heart disease secondary. Patient was initially started on valproic acid 500mg tablet every 8 hours, benzathine penicillin 1.2M units intramuscular, and carvedilol 12.5mg/tablet twice a day. The patient was then shifted to haloperidol 5mg ¼ tablet twice a day, diphenhydramine 50mg intravenously coinciding with haloperidol doses due to visual side effects of valproic acid. This report highlights the importance of a high index of suspicion and complete history and physical examination in order to diagnose and manage movement disorders in a low-income setting.

INTRODUCTION

Takayasu arteritis (TA) is a rare chronic large vessel vasculitis that affects the aorta and its major branches with a median age of onset of 25 years. The disease has a worldwide incidence of 1-2 per million, primarily affecting females with a 9:1 ratio. It is considered as an autoimmune disease that leads to progressive vessel thickening and stenosis, or aneurysmal dilatation. Coronary artery involvement is observed in 5.9%-58.2% of TA cases. We present a case of TA in a Filipino male presenting concurrently with myocardial infarction (MI) and ischemic stroke.

A 41-year-old Filipino male smoker with hypertension presented with chest pain, left-sided paresthesia and hemiparesis. Initial assessment revealed differential blood pressure between the arms, sensory and motor deficits, and abnormal ABI. Electrocardiogram confirmed anteroseptal ST-elevation MI and cranial computed tomography (CT) showed ischemic stroke. Arterial duplex scan had findings suggestive of hemodynamically significant lower extremity stenosis. A CT aortogram revealed multiple occlusions, including in the left subclavian artery, suggesting TA. Coronary angiography was attempted but was deferred due to peripheral arterial occlusion. A CT coronary angiogram revealed severe stenosis of the left anterior descending artery and moderate stenosis of the other coronaries. The patient was treated with dual antiplatelet therapy, statins, anticoagulation, corticosteroids and methotrexate. He experienced significant improvement in neurological symptoms and was chest pain-free upon discharge. At the 1-month follow-up, the patient remained asymptomatic.

Coronary involvement in TA can manifest as angina, MI, or other coronary lesions. The coexistence of MI and ischemic stroke in the same event is rare. Traditional risk factors for ischemic heart disease (IHD) in this patient such as hypertension and smoking may have contributed to the presentation, though TA itself is known to accelerate atherosclerosis. Limited vascular access hindered coronary intervention in this case and revascularization strategies remain challenging in active TA. The formation of extensive collateral arteries, along with early initiation of immunosuppressive therapy, likely contributed to the patient’s survival.

This case illustrates a rare and complex case of TA in a male patient with concurrent MI and ischemic stroke. Although coronary revascularization was not pursued due to occluded access, immunosuppressive therapy successfully managed the patient’s condition. Extensive collateral artery formation and early therapeutic intervention were key factors in the patient’s favorable outcome.

BACKGROUND

Takayasu arteritis (TAK) is a rare, chronic large-vessel vasculitis affecting the aorta and its major branches, leading to stenosis, occlusion, or aneurysmal changes. The global incidence is approximately 1.11 cases per million person-years, with a strong female predominance (80%–90%), typically manifesting between 40 and 50 years of age. Although TAK occurs worldwide, its prevalence is highest in Asia with 61 reported cases in the Philippines. Clinical manifestations are heterogeneous, ranging from nonspecific systemic symptoms to severe vascular complications, often delaying diagnosis, particularly in atypical cases.

We report a 43-year-old woman with hypertension, diabetes and chronic ischemic stroke without residuals who presented with a two-month history of easy fatigability, generalized weakness, arthralgia, intermittent claudication with progressive dark discoloration of both lower extremities, undocumented low-grade fever and alopecia. She developed acute respiratory distress with abrupt loss of consciousness requiring emergent intubation. Examination revealed a marked discrepancy in blood pressure between the upper extremities, diminished peripheral pulses and an audible abdominal bruit. Laboratory studies showed elevated Troponin I, ESR and CRP, with borderline ANA and normal complement levels. Neuroimaging demonstrated multiple acute and chronic cortical and cerebellar infarcts. Initially managed as a cerebrovascular accident, she required tracheostomy for ventilatory dependence. Antiplatelet and anticoagulant therapy was started after evidence of myocardial infarction. Progressive ischemia of the left lower extremity necessitated below-knee amputation. CT aortography later revealed diffuse thoracoabdominal aortic and iliac involvement with mural thickening, multiple aneurysms, dissection and unilateral renal artery stenosis. Further immunologic workup showed her to be negative for lupus anticoagulant. Immunosuppressive therapy with corticosteroids and methotrexate was initiated to control vascular inflammation and limit further progression.

This case highlights the diagnostic complexity of TAK with atypical, multi-organ ischemic presentations, emphasizing the importance of clinical vigilance, comprehensive vascular imaging and timely immunosuppressive therapy to mitigate complications and improve outcomes.

Repair of complex aortic aneurysms such as those involving the thoracoabdominal and pararenal aorta presents a formidable challenge for surgeons with significant perioperative morbidity and mortality. A hybrid procedure combining renovisceral debranching with endovascular aneurysm exclusion has been developed as an alternative approach for high-risk patients. This paper reports our initial experience with hybrid repair for these complex aortic diseases in three high-risk patients.

OBJECTIVE: To explore the genetic basis of a patient suspected for Loeys-Dietz syndrome (LDS). METHODS: A adult male patient with aneurysmal dilation of the aortic root identified during the treatment for chronic myeloid leukemia at Anzhen Hospital of Capital Medical University in 2021 was selected as the study subject. Clinical data of the patient were retrospectively collected. Peripheral blood samples were collected from the patient and his family members and subjected to whole-exome sequencing (WES). Candidate variant was verified by bioinformatic analysis, with a focus on the genes associated with hereditary aortic aneurysms. Candidate variant was validated by Sanger sequencing. The online SpliceAI software was used for the prediction of protein function. The results, combined with information from public databases, were used to classify the pathogenicity of the candidate variant according to the guidelines from the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Ethics Committee of Beijing Anzhen Hospital (Ethics No. 2023163X). RESULTS: Imaging analysis revealed that the patient had aneurysmal dilation of the aortic root. Based on his clinical features and past history, a provisional diagnosis of LDS was established. WES revealed that the patient had harbored a heterozygous splice site variant c.206+2T>G in the SMAD3 gene (NM_005902). The variant was not reported in public databases and was predicted to be pathogenic by SpliceAI. Sanger sequencing showed that the variant was also present in the proband's mother, sister, nephew, and daughter, but not in his father. Based on the guidelines from the ACMG, the variant was classified as likely pathogenic (PVS1+PM2_Supporting). CONCLUSION The heterozygous splice site variant c.206+2T>G of the SMAD3 gene probably underlay the disease in this patient. Above discovery has enriched the mutational spectrum of LDS, which may facilitate delineation of the genotype-phenotype correlation and provide a basis for further risk stratification and personalized treatment of LDS.
Adult ; Humans ; Male ; Exome Sequencing ; Loeys-Dietz Syndrome/genetics* ; Mutation ; Pedigree ; Smad3 Protein/genetics*

Aortic dissection (AD) is a life-threatening cardiovascular disease characterized a tear in the aortic intima, which leads to the formation of two separate channels within the aortic wall due to blood flow. The mortality rate of AD is high, especially when dissection ruptures, as it can rapidly trigger acute cardiac and vascular complications, ultimately leading to death. Therefore, understanding the pathogenesis of AD and identifying potential therapeutic strategies is of critical clinical importance. Vascular smooth muscle cell (VSMC) play a central role in the structural and functional integrity of the aortic wall, and dysfunction of VSMC is closely associated with the development of AD. Recent studies suggest that the functional alterations of VSMC involve multiple mechanisms, including apoptosis, oxidative stress, and aberrant intracellular signaling, all of which play key roles in the disruption of the aortic wall structure. This review focuses on the role of VSMC in AD, particularly the specific involvement of VSMC apoptosis in the progression of AD, and further explores therapeutic strategies targeting the pathological processes of VSMC in AD, such as the inhibition of inflammatory mediators and oxidative stress. Despite some progress in current treatments, effectively intervening in the pathological progression of VSMC remains a significant challenge. Future research will further investigate these mechanisms, providing new insights and strategies for the treatment of AD. Studying the role of VSMC in AD is crucial for the development of novel therapeutic approaches.
Apoptosis ; Humans ; Muscle, Smooth, Vascular/pathology* ; Aortic Dissection/therapy* ; Oxidative Stress ; Myocytes, Smooth Muscle/pathology* ; Aortic Aneurysm/pathology*

INTRODUCTION: Takayasu arteritis is the most common large-vessel vasculitis in childhood, but there is a lack of literature regarding childhood-onset Takayasu arteritis (c-TAK) in Southeast Asia. We aim to describe a c-TAK cohort in Singapore and highlight a unique subset that first presents with Kawasaki-like disease (KD). METHOD: A single-centre cohort study in Singapore of consecutive children diagnosed with c-TAK between 2002 and 2023 was performed. Demographic and clinical features, laboratory and angiographic findings, treatment, and outcomes were summarised. Disease activity was evaluated using the Paediatric Vasculitis Disease Activity Score and inflammatory markers. RESULTS: Twenty-three patients, fulfilling both the EULAR/ PRINTO/PReS and ACR/EULAR 2022 criteria, were recruited. The most common clinical features at diagnosis were fever (15, 65%) and neurological symptoms (11, 48%, half of which presented with stroke), while the most prevalent angiographic pattern by Hata's classification was Type V (21, 91%). Eight children (35%) initially presented with refractory KD, and these patients were significantly younger, more male-predominant, and had higher inflammatory markers at diagnosis; all of them had coronary artery involvement, but none had intracranial vascular findings. Of the entire cohort, 16 (70%) achieved inactive disease on medications with a median duration of 6 months (interquartile range [IQR]: 4-11), and 8 (35%) achieved remission off medications with a median duration of 43 months (IQR 35-60). CONCLUSION Our c-TAK cohort has high proportions of neurological involvement and stroke. This is also the first cohort study to describe a distinct group of patients who first presented with refractory KD.
Humans ; Takayasu Arteritis/complications* ; Singapore/epidemiology* ; Male ; Female ; Child ; Adolescent ; Age of Onset ; Mucocutaneous Lymph Node Syndrome/diagnosis* ; Cohort Studies ; Child, Preschool ; Fever/etiology* ; Stroke/epidemiology* ; Retrospective Studies

Humans ; Takayasu Arteritis/therapy* ; Child ; Consensus

An 11-year-old boy presented with erythematous plaques over the bilateral mandibular and mental regions for 2 years, accompanied by cough and dyspnea for more than 2 months. Chest computed tomography angiography revealed marked stenosis of the right pulmonary artery, irregular aortic caliber, and aortic wall thickening. Histopathological examination of the skin lesion, including immunohistochemistry and special stains, confirmed a chronic suppurative inflammation. Whole-exome sequencing was negative. A final diagnosis of granuloma faciale and Takayasu arteritis was established. Combination therapy with systemic tocilizumab, prednisone, and methotrexate, along with topical 0.1% tacrolimus ointment, resulted in a favorable clinical response. This report summarizes the clinical features of a pediatric case of granuloma faciale and Takayasu arteritis and reviews the etiology, diagnostic approach, and current treatment strategies for the disorders, aiming to enhance clinicians' understanding of these conditions.
Humans ; Male ; Child ; Takayasu Arteritis/diagnosis* ; Facial Dermatoses/diagnosis*

Renal autotransplantation (RA) offers significant technical advantages for the management of certain complex renal vascular diseases, such as complex renal aneurysms and renal artery malformations. This report describes a case of a 5-year-old child with a complex left renal artery aneurysm combined with multiple aneurysms. The child was admitted to Peking University People's Hospital in December 2023 due to a one-year history of intermittent abdominal pain, with an abdominal mass detected in the past month. Computed tomography angiography(CTA) revealed multiple vascular anomalies, including: (1) a left renal artery aneurysm, (2) an abdominal aortic aneurysm, and (3) a right iliac artery aneurysm. After a comprehensive evaluation of these findings, the surgical team developed a treatment plan that involved the excision of the left renal artery aneurysm, autotransplantation of the left kidney, and resection of the abdominal aortic aneurysm with an artificial vascular catheterization. During surgery, it was discovered that the left renal artery anatomy was highly complex. The artery had two primary branches, along with an additional polar artery located at the lower pole. The aneurysm was identified at the distal end of the renal artery trunk, with a pronounced bulging at the intersection between the main renal artery trunk and its secondary branches. Due to these structural complexities, the team decided to use an ex vivo surgical approach to repair the aneurysm. Ex vivo repair involves temporarily removing the kidney from the body to repair the renal artery aneurysm with enhanced precision, enabling the surgical team to meticulously reconstruct the complex vascular architecture without the constraints of in vivo manipulation. The ex vivo repair of the renal artery aneurysm was successful, allowing for accurate vascular reconstruction and avoiding potential intraoperative complications. Following the reconstruction, the kidney was autotransplanted back into the child's body, and blood flow was effectively restored to the organ. The therapeutic outcome was excellent, with the child experiencing no postoperative complications. The patient recovered well and was discharged from the hospital in stable condition. This case underscores the value of renal autotransplantation combined with ex vivo repair for pediatric patients with complicated renal artery aneurysms. Through this report, we aim to provide insights and considerations for the surgical treatment of similar cases in children with complex renal vascular anatomy.
Child, Preschool ; Humans ; Aneurysm/surgery* ; Aortic Aneurysm, Abdominal/diagnostic imaging* ; Computed Tomography Angiography ; Iliac Aneurysm/surgery* ; Kidney Transplantation/methods* ; Renal Artery/abnormalities* ; Transplantation, Autologous