Ying-Ying Huang, Pei-Yun Chen, Yen-Nien Lin, Chyi Lo
{"title":"Uncommon Cardiac Perforation and Lead Displacement After Pacemaker Implantation: A Case Study and Diagnostic Insights.","authors":"Ying-Ying Huang, Pei-Yun Chen, Yen-Nien Lin, Chyi Lo","doi":"10.12659/AJCR.945008","DOIUrl":"10.12659/AJCR.945008","url":null,"abstract":"<p><p>BACKGROUND Pacemaker implantation serves as a prevalent therapeutic approach for bradycardia or atrioventricular blocks associated with syncope. While generally regarded as safe, this procedure is not devoid of rare yet severe complications. Examples include lead-induced cardiac perforation resulting in pneumothorax or pericardial effusion, which pose life-threatening risks. CASE REPORT This article presents a case study detailing the experience of an 87-year-old patient diagnosed with complete atrioventricular block who underwent permanent pacemaker implantation, complicated by lead displacement and cardiac perforation. Despite the absence of typical post-implantation symptoms, such as backache, chest tightness, shortness of breath, and drops in blood pressure, the electrocardiogram (ECG) revealed a right bundle-branch block pattern. Additionally, bradycardia and occasional pacemaker capture failure were observed the day following pacemaker implantation. Subsequent X-ray and computer tomography examinations confirmed displacement of the ventricular lead and the presence of cardiac perforation and left pneumothorax. Following emergent thoracic drainage and repositioning of the right ventricular lead, the patient was discharged without further complications. CONCLUSIONS This case highlights the importance of thorough post-implantation monitoring, even in the absence of typical symptoms. Early detection through electrocardiogram, X-ray, and CT can facilitate timely intervention, as demonstrated by the successful treatment and discharge of the patient following emergent thoracic drainage and pacemaker lead repositioning.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"25 ","pages":"e945008"},"PeriodicalIF":1.0,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11654869/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Atypical Choroid Plexus Papilloma in a Newborn, Misdiagnosed by Ultrasound and MRI: A Case Report.","authors":"Zhouqin Lin, Lei Liu, Luyao Zhou","doi":"10.12659/AJCR.945575","DOIUrl":"10.12659/AJCR.945575","url":null,"abstract":"<p><p>BACKGROUND Choroid plexus tumors (CPTs) are rare brain tumors that originate from the choroid plexus epithelium and range from low-grade papillomas to overtly malignant carcinomas, and can occur in newborns. According to the World Health Organization's histological classification, atypical choroid plexus papilloma (aCPP) is an intermediate-grade (Grade II) lesion characterized by an increased mitotic rate. It is difficult to distinguish CPTs on imaging during the early stages. The present article aims to increase awareness and vigilance regarding CPTs. CASE REPORT A newborn girl was admitted to the hospital on the day of her birth with suspected intracranial hemorrhage, after visualization of a hyperechoic lesion in the right lateral ventricle the day before delivery. During hospitalization, her neurological examinations revealed no abnormalities. Cranial ultrasound showed that the right choroid plexus was thicker, with stronger echo and more Doppler flow than the left side. MRI revealed an isointense mass located in the right ventricular trigone. She was treated conservatively for suspected intraventricular hemorrhage, and 3 months later, her head circumference increased. A follow-up MRI showed that the lesion had greatly enlarged. Consequently, surgery was performed, and the histopathologic finding showed it was aCPP. CONCLUSIONS CPTs are rare tumors that do not have specific clinical patterns or imaging findings, and they can easily be misdiagnosed as intraventricular hemorrhage. The thickening of the choroid plexus, which presents with a highly echogenic appearance and enhanced blood flow signals, might be an ultrasound feature indicative of CPTs.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"25 ","pages":"e945575"},"PeriodicalIF":1.0,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11649030/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142819551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Anastasios Nikolaos Panagopoulos, Angelos Karagiannis, Panagiotis M Sarris-Michopoulos, Kathleen Ebersol, Michael Andrew Vavuranakis, Stephanie Cantu, David Vadnais, Noble Maleque
{"title":"Pneumococcal Endocarditis, Sepsis, and Meningitis in an Immunocompromised Patient: A Case Study.","authors":"Anastasios Nikolaos Panagopoulos, Angelos Karagiannis, Panagiotis M Sarris-Michopoulos, Kathleen Ebersol, Michael Andrew Vavuranakis, Stephanie Cantu, David Vadnais, Noble Maleque","doi":"10.12659/AJCR.945915","DOIUrl":"10.12659/AJCR.945915","url":null,"abstract":"<p><p>BACKGROUND Streptococcus pneumoniae is an uncommon but serious cause of infective endocarditis (IE), particularly in immunocompromised individuals, such as those with untreated HIV. When pneumococcal IE occurs, it is associated with high morbidity and mortality due to the high prevenance of complications such as acute valvular destruction and septic embolization. Therefore, early recognition and prompt surgical intervention are paramount to improving outcomes. This case report highlights the complexity of diagnosing and managing pneumococcal IE in the context of concurrent infections and immunosuppression. CASE REPORT We present a rare case of a 37-year-old man with untreated HIV who presented with fever, confusion, and back pain. He had a history of pneumococcal sepsis and meningitis a year prior. This time, he was diagnosed with pneumococcal sepsis, meningitis, and mitral valve infective endocarditis with large vegetations, which triggered the prompt involvement of a multidisciplinary treatment team for further operative management in addition to the indicated antimicrobial therapy. The case was concluded with successful operative mitral valve replacement. CONCLUSIONS Pneumococcal infective endocarditis is an uncommon but potentially fatal complication of pneumococcal bacteremia. In patients with risk factors such as untreated HIV, a high degree of clinical suspicion is required to ensure early diagnosis. Timely surgical intervention, along with targeted antimicrobial therapy, are critical to improving outcomes in these patients. Multidisciplinary collaboration is essential to prevent further complications, making early operative management a key element in the successful treatment of pneumococcal IE. Improving vaccination efforts in vulnerable populations could reduce the incidence of such severe cases.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"25 ","pages":"e945915"},"PeriodicalIF":1.0,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11649034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142822715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Alopecia Areata Following the Use of Belimumab in a Patient with Systemic Lupus Erythematosus and Arthritis Who Responded Well to Baricitinib: A Case Report.","authors":"Hani Almoallim, Maryam Dahlawi, Mutasem Abed, Rasha Alamr","doi":"10.12659/AJCR.945068","DOIUrl":"10.12659/AJCR.945068","url":null,"abstract":"<p><p>BACKGROUND Appropriate recommendations for the management of systemic lupus erythematosus (SLE) should be carefully followed. A significant adverse effect can develop unexpectedly, and off-label drug use may control this adverse effect and other lupus manifestations. The current research in lupus relies solely on multiple composite outcome measures, which vary from one study to another. However, the optimal drug for a particular lupus symptom is presently unclear, requiring additional research for definitive clarification. CASE REPORT Here, we report a typical case of SLE in a 54-year-old Saudi female patient who presented with mucocutaneous symptoms and arthritis. She had a positive serology for antinuclear antibodies and anti-double-stranded DNA. Owing to the failure of conventional drugs, the use of belimumab resulted in significant improvements. She later developed worsening symptoms that progressed from alopecia areata (AA) to alopecia totalis (AT) and alopecia universalis (AU). She partially responded to systemic and local steroid injections. All measures to taper her steroid failed despite the use of azathioprine, methotrexate, and mycophenolate. Belimumab was stopped due to lack of efficacy. She was re-challenged with belimumab after she showed partial response to steroid therapy, but this clearly resulted in worsening of her hair loss to AT. The use of baricitinib following the second discontinuation of belimumab resulted in a significant improvement in AT and arthritis. CONCLUSIONS Our case offers valuable perspectives for future SLE research by concentrating on specific outcomes instead of composite outcome measures. The effectiveness of baricitinib should be investigated further in SLE.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"25 ","pages":"e945068"},"PeriodicalIF":1.0,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11649032/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142819532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ali Mardassi, Hajer Turki, Rana Alasaad, Marwa Abddelrahman Elborady
{"title":"Ectopic Thyroid Nodule Hyperplasia: A Case Report.","authors":"Ali Mardassi, Hajer Turki, Rana Alasaad, Marwa Abddelrahman Elborady","doi":"10.12659/AJCR.945867","DOIUrl":"10.12659/AJCR.945867","url":null,"abstract":"<p><p>BACKGROUND We present a rare case of an ectopic thyroid nodule hyperplasia, confirmed postoperatively after excision and histopathological examination of a chronic cervical mass. We discuss the different clinical and therapeutic features of this rare thyroid dysgenesis caused by a defect of migration of the gland along its normal way of descent. CASE REPORT A 48-year-old man with a history of hypertension and asthma presented with dysphagia and a progressively growing firm mass at the anterior part of his neck over the past 6 months. Ultrasound and computed tomography suggested that the mass was attached only to the anterior part of the larynx, without connection to the thyroid, and with a multinodular gland in normal position. A complete surgical excision was performed under general anaesthesia through an external cervical approach. The mass, measuring 60×40 mm, was sent for a histological assessment, which concluded a fully encapsulated ectopic thyroid mass attached only to the soft tissues of the anterior part of the larynx, not showing any sign of malignancy transformation. The outcome of the surgery was marked by a quick recovery, with an improvement of the initial symptoms, proper healing of the surgical scar, and durable normal thyroid functioning after a regular follow-up of 6 months. CONCLUSIONS Nonspecific symptoms can reveal ectopic thyroid tissue growth. Appropriate neck imaging combined, when available, with fine needle aspiration help to determine the extent of the mass and predict its nature. Surgical excision and histological analysis are required to confirm the diagnosis and to exclude any thyroid neoplasm.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"25 ","pages":"e945867"},"PeriodicalIF":1.0,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11649031/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142814360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Rapid Recovery After Full Sternotomy Off-Pump Coronary Artery Bypass Grafting in Complex Cases: A Report of 3 Cases.","authors":"Ganesh Kumar K Ammannaya","doi":"10.12659/AJCR.946043","DOIUrl":"10.12659/AJCR.946043","url":null,"abstract":"<p><p>BACKGROUND While very early discharge at 4 or fewer days after coronary artery bypass grafting (CABG) is proven safe, cost-effective, and not novel, the term \"rapid discharge\" to indicate discharge at 2 or fewer days has been put forth more recently. However, there have been no such discharges documented in certain complex and challenging clinical scenarios, such as in patients with solitary kidney with deranged renal function, in emergency settings, or in very severe left ventricular dysfunction and dense adhesive pericarditis with diffuse plaque necessitating coronary artery endarterectomy. CASE REPORT I present 3 cases of off-pump coronary artery bypass grafting (OPCAB) performed through conventional full sternotomy that were successfully discharged on the second postoperative day (at 42 h after surgery) in the following clinical settings: (1) patient with solitary kidney with borderline renal function; (2) patient undergoing emergency CABG; and (3) patient with adhesive pericarditis and severe left ventricular dysfunction requiring concomitant coronary endarterectomy with pericardiectomy. Such successful rapid discharges have never been documented in the medical literature so far. None of the patients required hospital readmissions, and all 3 patients have completed 12 months of successful follow-up. CONCLUSIONS Enhanced recovery after cardiac surgery (ERACS) can possibly be expanded safely and successfully to several clinical subsets of patients with multiple risk factors and a higher degree of surgical complexity.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"25 ","pages":"e946043"},"PeriodicalIF":1.0,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11649029/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808151","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Adrenal PEComa Treated by Surgical Resection and Postoperative Radiotherapy: A Case Report.","authors":"Sıtkı Utku Akay, Oğuzhan Kesen, Derya Küçük, Emre Yener","doi":"10.12659/AJCR.945177","DOIUrl":"10.12659/AJCR.945177","url":null,"abstract":"<p><p>BACKGROUND Perivascular epitheloid cell neoplasm (PEComa) is a rare mesenchymal tumor that is evaluated in the same tumor family as angiomyolipoma, sugar cell tumor of the lung, and lymphangioleiomyomatosis. Immunohistochemically, the disease can express melanocytic and myogenic markers, such as HMB45, HMSA1, MelanA/Mart1, and actin. The disease can be seen in almost every organ, especially the uterus and retroperitoneum. Adrenal gland-derived PEComa is extremely rare and leads to difficulties in diagnosis. Here, we present a case of a adrenal gland PEComa in which we applied postoperative radiation therapy. CASE REPORT A 24-year-old female patient visited the doctor in April 2022 due to abdominal pain that had been increasing steadily for the previous few months. Abdominopelvic computed tomography shows a solid mass of 10 cm on the right adrenal gland. Right adrenal gland mass excision surgery was performed in May 2022. The pathology was reported as malign PEComa. The patient was admitted for postoperative radiotherapy because of uncertainty about the surgical boundaries. Systemic treatment was not required. A fraction dose of 4680 cGy/26 was applied by 8-field IMRT to the tumor bed area. In December 2022, the patient's radiotherapy was completed. No acute adverse effects from the radiotherapy were observed. The patient's follow-up after treatment continued, without disease and long-term adverse effects. CONCLUSIONS Surgical resection is the primary treatment approach in the treatment of localized disease. Although the literature is far from making a clear recommendation on adjuvant therapy, pathologic risk factors should be considered when deciding on adjuvant therapy.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"25 ","pages":"e945177"},"PeriodicalIF":1.0,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11649033/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142814350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Rare Case of Fusobacterium necrophorum Bacteremia and Pleural Empyema Originating from a Burn Ulcer in a 16-Year-Old Female Patient.","authors":"Masakiyo Yatomi, Chihiro Hashimoto, Shunichi Kouno, Yuki Hoshino, Yuki Yoshida, Kentaro Hara, Shogo Uno, Hiroaki Masubuchi, Yosuke Miura, Hiroaki Tsurumaki, Yasuhiko Koga, Noriaki Sunaga, Takeshi Hisada, Toshitaka Maeno","doi":"10.12659/AJCR.945283","DOIUrl":"10.12659/AJCR.945283","url":null,"abstract":"<p><p>BACKGROUND Most Fusobacterium necrophorum infections originate in the head and neck region. Infections originating from sites other than the head and neck are rare but are more common in older than in younger adults and have a higher mortality rate than that of infections originating from the head and neck region. CASE REPORT We present the case of a previously healthy 16-year-old female patient who developed bacteremia and pleural effusions with a burn ulcer on the lower leg but had no abnormality in the head and neck region. She sustained a second-degree burn injury on the left shin that remained untreated for several weeks, resulting in the development of Fusobacterium necrophorum bacteremia. She was admitted after developing fever, chest pain, and dyspnea. Blood culture revealed Fusobacterium necrophorum, but no abnormality was noted in the head and neck region, and a second-degree burn was observed on the left shin. She had bilateral pleural effusions assumed to result from a burn ulcer and was intravenously treated with tazobactam/piperacillin and therapeutic thoracentesis. She responded to therapy and made a full recovery. CONCLUSIONS While the origin of the Fusobacterium necrophorum infection in the burn ulcer could not be detected, this case report suggests that burn ulcers are a potential source of systemic Fusobacterium necrophorum infection and highlights the importance of early medical and surgical treatment and antimicrobial therapy.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"25 ","pages":"e945283"},"PeriodicalIF":1.0,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11647552/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802509","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Acute Epiploic Appendagitis Mimicking Ovarian Torsion: A Case Report Highlighting Diagnostic Challenges.","authors":"Sophie Baird, Ibrahim Alsharaydeh","doi":"10.12659/AJCR.944870","DOIUrl":"10.12659/AJCR.944870","url":null,"abstract":"<p><p>BACKGROUND Acute epiploic appendagitis is an uncommon cause of acute abdominal pain characterized by pain in the left or right lower quadrants of the abdomen. It is caused by torsion or spontaneous venous thrombosis of one of the epiploic appendages, which are found along the colon, most commonly in the sigmoid colon. The literature consistently compares the presenting symptoms and clinical picture of acute epiploic appendagitis to acute diverticulitis and acute appendicitis. However, ovarian torsion is not reported as a differential diagnosis for this pathology in the literature. CASE REPORT This case report demonstrates a female patient in her late 30s presenting with acute left iliac fossa pain associated with vomiting, in the context of a negative beta-hCG blood test. The history of severe unilateral intermittent pelvic pain progressing to constant pain associated with vomiting led to a working differential diagnosis of ovarian torsion. A bimanual vaginal examination was positive for tenderness in the left iliac fossa with no palpable adnexal masses or cervical motion tenderness. Therefore, the patient underwent an emergency diagnostic laparoscopy and was found to have normal ovaries, with torsion of an epiploic appendage identified. A diagnosis of acute epiploic appendagitis was made. CONCLUSIONS This case report demonstrates the importance of considering acute epiploic appendagitis as a rare differential diagnosis for ovarian torsion in female patients. With the management of this pathology being non-operative, identification of this condition on ultrasound or computed tomography is essential in avoiding unnecessary surgery for patients with this pathology.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"25 ","pages":"e944870"},"PeriodicalIF":1.0,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11647553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Francisco L Uribe-Buritica, Paula Andrea Cárdenas-Marín, Juan David López-Ponce de León
{"title":"A 68-Year-Old Colombian Man Presenting with Heart Failure and a Diagnosis of Cardiac Transthyretin Amyloidosis.","authors":"Francisco L Uribe-Buritica, Paula Andrea Cárdenas-Marín, Juan David López-Ponce de León","doi":"10.12659/AJCR.943811","DOIUrl":"10.12659/AJCR.943811","url":null,"abstract":"<p><p>BACKGROUND Amyloidosis is a group of diseases characterized by the pathological deposition of misfolded proteins in various organs, including the heart, leading to structural and functional alterations. The primary types of cardiac amyloidosis are light chain amyloidosis and transthyretin amyloidosis. Early diagnosis is critical for effective management. This report describes the case of a 68-year-old Colombian man presenting with heart failure and a diagnosis of cardiac amyloidosis. CASE REPORT A 68-year-old man presented with heart failure symptoms, biceps tendon rupture, neuropathic pain in the extremities, and an electrocardiogram showing low QRS voltage and a pseudo-infarct pattern. Transthoracic echocardiogram revealed a left ventricular ejection fraction of 30%, severely thickened walls with a speckled appearance, a global longitudinal strain of -6.2% in a bull's eye pattern, and a left ventricular posterior wall thickness of 21.3 mm. Cardiac magnetic resonance imaging showed severe symmetric hypertrophy, moderate global dysfunction, and an elevated native T1 value of 1225 milliseconds. Post-gadolinium T1 mapping revealed a significantly increased extracellular volume of 72%. Perugini grade 3 pyrophosphate scintigraphy, negative hematological tests, and endomyocardial biopsy confirmed the diagnosis of amyloidosis, without monoclonal spikes. Genetic testing identified a heterozygous c.424G>A (p.Val142Ile) variant in the transthyretin gene, consistent with variant transthyretin amyloidosis. CONCLUSIONS Amyloidosis may affect up to 13% of patients with heart failure and preserved ejection fraction. Early recognition of red flags and implementation of a diagnostic algorithm are crucial for timely intervention in this population.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"25 ","pages":"e943811"},"PeriodicalIF":1.0,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11642121/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}