American Journal of Case Reports最新文献

{"title":"Neonatal Congenital Myasthenic Syndrome Linked to CHAT Gene Variants: A Case Report and Treatment Insights.","authors":"Mohammed Rohi Khalil, Lone Walentin Laulund, Anna Julie Aavild Ploug, Ida Coordt Elle, Jesper Fenger-Groen","doi":"10.12659/AJCR.946839","DOIUrl":"https://doi.org/10.12659/AJCR.946839","url":null,"abstract":"<p><p>BACKGROUND Congenital myasthenic syndrome (CMS) is a rare inherited neuromuscular disorder characterized by muscle weakness and fatigue, often presenting at birth or early childhood. The condition arises from mutations affecting the neuromuscular junction, with an incidence of 1.5 to 9 per million. CMS is primarily classified into presynaptic, synaptic, and postsynaptic types, with mutations in the choline acetyltransferase (CHAT) gene responsible for 4% to 5% of cases. The CHAT gene encodes an enzyme vital for acetylcholine synthesis, a neurotransmitter essential for neuromuscular communication. Mutations in CHAT disrupt acetylcholine production, impairing signal transmission at the neuromuscular junction. This report aims to present a rare case of CMS and highlight the significance of early genetic diagnosis and treatment. CASE REPORT We present a rare case of a newborn girl with autosomal recessive CMS caused by compound heterozygous mutations in the CHAT gene: CHAT c.1679A>G and CHAT c.287-1G>C. Born prematurely at 31 weeks gestation, she presented with severe hypotonia, respiratory failure, and absent spontaneous movements. Genetic testing confirmed CMS. Initial treatment with oral pyridostigmine was ineffective, necessitating a switch to intravenous neostigmine, followed by continuous subcutaneous administration. This resulted in significant clinical improvement, including weaning off mechanical ventilation and achieving developmental milestones, with ongoing physiotherapy. CONCLUSIONS This case underscores the importance of early genetic testing in neonates with unexplained muscle weakness and respiratory failure. Early genetic diagnosis and personalized treatment with acetylcholinesterase inhibitors were key to the infant's recovery, highlighting the potential for positive outcomes even in severe CMS cases due to ChAT mutations.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e946839"},"PeriodicalIF":1.0,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035968/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144028918","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":"Telitacicept and Tacrolimus Synergy in Managing Refractory Primary Membranous Nephropathy: Case Insights.","authors":"Renwei Huang, Yuhe Yin, Zewen Zhao, Xiaoying Dong, Chao Chen, Haowen Lin, Yiming Tao, Siqi Peng, Sichun Wen, Bohou Li, Qiong Wu, Sijia Li, Ting Lin, Hao Dai, Feng Wen, Zhuo Li, Lixia Xu, Jianchao Ma, Shuangxin Liu, Zhonglin Feng","doi":"10.12659/AJCR.946727","DOIUrl":"https://doi.org/10.12659/AJCR.946727","url":null,"abstract":"<p><p>BACKGROUND Refractory primary membranous nephropathy (pMN), characterized by persistent proteinuria despite immunosuppressive therapy, is frequently associated with phospholipase A2 receptor (PLA2R) antibodies. Recent advancements have emphasized the effectiveness of biological agents, particularly the novel recombinant fusion protein telitacicept, in treating this condition. However, only a limited number of published studies have reported the use of telitacicept in pMN treatment. This report presents a case of a man with refractory pMN successfully treated with a combination of telitacicept and tacrolimus. CASE REPORT A 32-year-old man had persistent lower-extremity edema for 6 months, with high levels of proteinuria and PLA2R antibodies. Renal biopsy confirmed the diagnosis of stage III membranous nephropathy. Initial treatment with corticosteroids and cyclophosphamide showed limited efficacy. The addition of tacrolimus improved symptoms to some extent, but corticosteroids had to be discontinued due to ophthalmic complications. Tacrolimus monotherapy, however, failed to further reduce the levels of proteinuria. Subsequently, the addition of telitacicept significantly lowered both levels of proteinuria and PLA2R antibodies within 2 weeks. After 6 months of this revised treatment, PLA2R antibody results turned negative. CONCLUSIONS This case report suggests that the combination of telitacicept and tacrolimus is a promising therapeutic approach for management of refractory pMN, particularly when conventional treatments have proven ineffective. It also highlights the importance of monitoring treatment response by measuring PLA2R antibody levels. Further studies are needed to confirm the long-term efficacy of the combination of telitacicept and tacrolimus in treatment of refractory pMN.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e946727"},"PeriodicalIF":1.0,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035964/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143989819","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":"Asymptomatic Postpartum Bradycardia: A Case of Spontaneous Resolution in a 34-Year-Old Woman.","authors":"Nurliana Abd Nassir, Huzairi Sani, Mohd Hafidzudin Zainal Abidin, Nur Amirah Shibraumalisi","doi":"10.12659/AJCR.946560","DOIUrl":"https://doi.org/10.12659/AJCR.946560","url":null,"abstract":"<p><p>BACKGROUND Maternal bradycardia in the postpartum period, without evidence of heart failure, is rare and usually self-limiting. Maternal bradycardia lasts a few days at most, but requires clinical observation and investigations to exclude cardiac disease or the effects of vasoactive medications or anesthesia. This report describes the case of a 34-year-old woman with self-limiting postpartum bradycardia as an incidental finding at a routine day 15 postnatal check-up. CASE REPORT A 34-year-old woman, para 2, presented for her routine day 15 postnatal check-up following an uneventful vaginal delivery. She was asymptomatic but was noted to have bradycardia, with a heart rate of 50 beats per min, confirmed by electrocardiogram as sinus bradycardia. Investigations, including blood tests, 24-h Holter monitoring, and echocardiography, ruled out structural heart disease or other pathologies. She was treated conservatively, and her heart rate normalized spontaneously by 6 weeks postpartum. CONCLUSIONS This report highlights the condition of postpartum maternal bradycardia and shows the importance of clinical history, thorough investigations, and follow-up to guide appropriate management and avoid unnecessary interventions.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e946560"},"PeriodicalIF":1.0,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035969/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144022849","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":"Innovative Callus Release Technique for Closed Reduction in Old Fractures: Case Studies and Methodology.","authors":"Ahmed Mohamed Oun, Mansour M Aldhilan, Mohamed E Abdel-Wanis","doi":"10.12659/AJCR.946876","DOIUrl":"https://doi.org/10.12659/AJCR.946876","url":null,"abstract":"<p><p>BACKGROUND In modern limb fracture management, particularly in children, image-guided closed reduction and percutaneous fixation are commonly employed. However, for older, displaced fractures, achieving closed reduction may be challenging or even unfeasible, often necessitating open reduction, which carries a higher risk of complications. We utilized K wires to fragment the fibrous callus and facilitate callus fragmentation in 2 patients with old fractures. In both cases, successful fracture reduction was achieved using a closed technique, followed by percutaneous K wire fixation. CASE REPORT Patient 1 was a 10-year-old girl who presented 10 days after sustaining a fully displaced fracture of the left radial neck due to trauma. Closed reduction under general anesthesia was unsuccessful. We employed percutaneous K wires to fragment the fibrous callus at the fracture site, enabling successful reduction and subsequent fixation. Patient 2 was a 50-year-old woman who presented with a displaced fracture at the base of the proximal phalanx of the little finger, initially treated with closed reduction and cast immobilization. At a follow-up examination 2 weeks later, the fracture was found to be fully displaced. Attempts at closed reduction under ring block anesthesia were unsuccessful. A percutaneous K wire was utilized to fragment the fibrous callus, enabling successful reduction and fixation. CONCLUSIONS The technique of fibrous callus fragmentation and closed reduction, followed by percutaneous K wire fixation, offers an effective approach for managing neglected, displaced fractures of the radial neck and the proximal phalanx of the little finger. This method allows for closed reduction and internal fixation in these challenging peri-articular fracture locations.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e946876"},"PeriodicalIF":1.0,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035962/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043685","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":"Diagnostic Challenges in Acute Fatty Liver of Pregnancy: Fever as a Key Symptom in Case Series from Indonesia.","authors":"Wahyudi Wirawan, Adhi Pribadi","doi":"10.12659/AJCR.946614","DOIUrl":"https://doi.org/10.12659/AJCR.946614","url":null,"abstract":"<p><p>BACKGROUND Acute fatty liver of pregnancy (AFLP) is a rare and catastrophic disease in pregnancy. It is important to distinguish between pathogenic diseases that cause abnormal liver function tests during pregnancy and typical physiological changes. An AFLP diagnosis can be established using Swansea criteria. AFLP typically occurs in the third trimester of pregnancy or postpartum, with a median presentation of 35-37 weeks of pregnancy. AFLP is also an obstetrical and medical emergency that is characterized by rapid deterioration of the patient's condition. CASE REPORT We present 3 cases from a tertiary hospital in Indonesia. The Swansea criteria were met in all 3 cases. Our cases were specifically characterized by complaints of fever. Fever complaints were not included in the Swansea criteria. The complaint of fever served to deceive and disorient the first treating clinician, resulting in a late referral. Delay of referral can lead to inappropriate treatment, prolonged duration of recovery, and the emergence of various complications, even death. In all of the cases reported here, the patients experienced detrimental effects and outcomes of the maternal and fetal condition. This case report also confirms that fever was the main symptom experienced by the patients who were hospitalized. Other common initial symptoms were nausea, vomiting, jaundice, and encephalopathy. CONCLUSIONS We propose that fever complaints be considered as criteria for AFLP diagnosis in Indonesia. However, more research is still needed with a larger number of cases. Prompt and appropriate treatment will result in a significantly more favorable outcome. Prompt identification, early diagnosis, immediate delivery, and comprehensive supportive treatment are important for maternal and infant outcomes in patients with AFLP.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e946614"},"PeriodicalIF":1.0,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12021003/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144020323","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":"Middle-Lobe Bronchus Transection in Blunt Thoracic Trauma From a High-Speed Motor Vehicle Collision: A Case Report.","authors":"Killen H Briones-Claudett, Mónica H Briones-Claudett, Killen H Briones-Zamora, Jaime Galo Benites Solís, Carlos S Ronquillo-Barzola, William Johnny Jimenez Jimenez, Zully Stefania Cedeño Robalino, Maria Antonieta Touriz Bonifaz, Pedro Barberan-Torres, Michelle Grunauer Andrade","doi":"10.12659/AJCR.946488","DOIUrl":"https://doi.org/10.12659/AJCR.946488","url":null,"abstract":"<p><p>BACKGROUND Bronchial rupture following blunt thoracic trauma is an uncommon but potentially fatal injury that requires early recognition and appropriate intervention. Timely diagnosis and multidisciplinary trauma care are essential for improving outcomes and preventing complications. CASE REPORT A 52-year-old man with no prior medical history was admitted to the Emergency Department after a high-speed motor vehicle collision. He presented with multiple injuries, dyspnea, and thoracic and pelvic pain. His initial Glasgow Coma Scale (GCS) score was 15/15. Physical examination revealed subcutaneous emphysema in the cervical region, a distended right hemiabdomen, and absent breath sounds in the right lung. Multiple right-sided chest wall lacerations were noted. An extended focused assessment with sonography in trauma (eFAST) was suggestive of intra-abdominal free fluid, prompting further imaging. A chest CT confirmed the right pneumothorax. An exploratory laparotomy revealed 200 cc of hemoperitoneum, grade 1 liver trauma (segments II and IV), and a non-bleeding hepatic hilum hematoma. Additional procedures included cystostomy, left iliac vein clamping, and pelvic bone stabilization with external fixators. Due to worsening respiratory status on postoperative day 2, the patient underwent an emergency thoracotomy, which revealed a 200-mL clot hemothorax in the costodiaphragmatic recess, middle-lobe contusions, ischemia, and a complete transection of the middle-lobe bronchus extending to the intermediate bronchus. Rib fractures (5th and 6th) necessitated a middle lobectomy and rib fixation. CONCLUSIONS This case underscores the importance of a high index of suspicion for tracheobronchial injuries in blunt thoracic trauma. While eFAST aids in initial assessment, definitive diagnosis requires advanced imaging modalities such as CT and bronchoscopy. Timely surgical interventions and a coordinated multidisciplinary approach are essential for optimal patient outcomes. By sharing this case, we aim to contribute to the understanding and management of rare bronchial injuries.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e946488"},"PeriodicalIF":1.0,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12021002/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144023437","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":"Epinephrine as a Therapeutic Agent for Hyperferritinemia in Diabetes Mellitus and Hypertension.","authors":"Ashraf M El-Molla, Fawzia Aboul Fetouh, Samir Bawazir, Yehya A Alwahby, Yasser A Ali, Abdullah A Basseet, Ahmed Hassan Albanna","doi":"10.12659/AJCR.947289","DOIUrl":"https://doi.org/10.12659/AJCR.947289","url":null,"abstract":"<p><p>BACKGROUND Diabetes mellitus was the first non-communicable disease to be recognized as a 21st century pandemic. Type 2 diabetes (T2DM) results from increased insulin resistance (IR) or relative insulin deficiency. IR impairs glucose disposal, leading to a compensatory hyper-insulinemic state. Increased iron stores as reflected by high serum ferritin (SF) have been associated with the development T2DM and affect glucose homeostasis by impairing tissue response to insulin. Iron overload (IO) is quite common in essential hypertension (HTN). The first clinical effect of epinephrine on SF was reported in 2024, showing that epinephrine resulted in normalization of SF and recovery from severe COVID-19 infection. CASE REPORT A patient with T2DM, HTN, and dyslipidemia associated with hyperferritinemia received the conventional treatment of T2DM and HTN, with a poor control of hyperglycemia and HTN. Since the patient had elevated SF, we obtained informed written consent for epinephrine's use to lower SF. Epinephrine 0.6 mcg/kg was injected subcutaneously under hemodynamic monitoring, and the results showed normalization of SF and complete recovery of T2DM and HTN. CONCLUSIONS Epinephrine can normalize elevated SF by its iron chelating effect; therefore, it can relieve IO and alleviate IR associated with T2DM and HTN. Epinephrine has an anti-inflammatory and scavenging properties that can inhibit ferroptosis. As a new clinical indication, extensive studies are required for further assessment and possible therapeutic uses in IO disorders such as hereditary hemochromatosis (HH), Alzheimer disease (AD), Parkinsonian disease (PD), and multiple sclerosis (MS).</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e947289"},"PeriodicalIF":1.0,"publicationDate":"2025-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12021004/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144004922","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":"Circumferential Stanford Type A Acute Aortic Dissection with Proximal Intimo-Intimal Intussusception: A Case Report and Literature Review.","authors":"Masato Hayakawa, Atsushi Tashiro, Yuka Higuma, Keisei Koizumi, Ryo Ikemura, Satoshi Yamashiro, Kiyoshi Iha","doi":"10.12659/AJCR.946875","DOIUrl":"https://doi.org/10.12659/AJCR.946875","url":null,"abstract":"<p><p>BACKGROUND Circumferential acute aortic dissection is a rare and fatal condition. We present a surgical case of a 76-year-old woman presenting with Stanford type A acute aortic dissection with intimo-intimal intussusception. CASE REPORT A 76-year-old woman living on a remote island with no significant medical history visited a local general hospital because of sudden anterior thoracic strangulation. Contrast-enhanced computed tomography revealed Stanford type A acute aortic dissection, and the patient requested helicopter transport to our hospital for surgery. During preparation for transport, the patient's level of consciousness decreased, shock vitals were observed, and she was intubated at the hospital. The patient arrived at the hospital approximately 5 h after the request for transportation, and surgery was started immediately. Following anesthesia induction, transesophageal echocardiography showed that the intima was in a to and fro state. Inspection of the ascending aorta revealed that the intima was completely circumferentially dissected and that the inverted intima was entrapped in the left ventricle. The dissection extended into the sinus of Valsalva; however, because the intima of the bilateral coronary arteries was normal, Bio-Glue was applied to the false lumen of the sinus of Valsalva for adequate repair, and ascending aortic replacement was performed using a 26-mm graft. CONCLUSIONS In this case, the dissection progressed during transport, and the patient experienced intimo-intimal intussusception, leading to shock. In such cases, swift transportation should be prioritized, and immediate surgical intervention is necessary.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e946875"},"PeriodicalIF":1.0,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12013955/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144062575","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":"Diagnostic and Surgical Management of Nesidioblastosis in a 42-Year-Old Man with Refractory Hypoglycemia.","authors":"Cleomar Ana de Souza Valentim, Vivien Suemi Arimura, Isabella De Melo Pompei, Denis Bonvechio, Marcio Shimabuku Silva, Fabio José Turrini, Mariana Soares Dalla Mariga Jorgino, Andre Silva Valentim","doi":"10.12659/AJCR.945453","DOIUrl":"https://doi.org/10.12659/AJCR.945453","url":null,"abstract":"<p><p>BACKGROUND Nesidioblastosis is an uncommon cause of hypoglycemia and is part of a group of diseases known as non-insulinoma pancreatogenic hypoglycemia syndrome (NIHPS). The objective of this report is to provide a comprehensive discussion on the diagnostic and therapeutic management of a case of nesidioblastosis, a rare and potentially fatal condition. CASE REPORT A 42-year-old non-diabetic man with a history of coronary artery disease and systemic arterial hypertension underwent extensive diagnostic investigation because he had been hospitalized several times over a period of approximately 2 years with a clinical history compatible with persistent refractory hypoglycemia. Despite laboratory and imaging tests, the underlying cause of the hypoglycemia remained unclear. Comprehensive investigation included computed tomography (CT), magnetic resonance imaging (MRI), upper endoscopy, PET/CT, and selective pancreatic arteriography. Persistent hypoglycemia associated with high insulin levels led to the suspicion of nesidioblastosis. After exhausting all clinical therapeutic options and after multidisciplinary discussion considering risks and benefits, we decided to perform total pancreatectomy and splenectomy. Anatomopathological and immunohistochemical examination confirmed the diagnosis of nesidioblastosis. CONCLUSIONS The diagnosis of nesidioblastosis is complex and requires a multidisciplinary approach. The decision to perform a total pancreatectomy was essential to control severe hypoglycemia and improve the patient's quality of life. This case report describes the diagnostic and therapeutic management of persistent endogenous hyperinsulinemic hypoglycemia and highlights the importance of diagnostic accuracy and early therapeutic intervention.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e945453"},"PeriodicalIF":1.0,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12013954/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144054887","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":"Efficacy of Mavacamten in Reducing Cardiac Obstruction in an Elderly Patient with Hypertrophic Cardiomyopathy: A Case Study.","authors":"Nicolas Andre, Ariel Galor, Katie Testa, Jericho Sumalbag, Shaya Manouchehri, Uri Meir Ben-Zur","doi":"10.12659/AJCR.946956","DOIUrl":"https://doi.org/10.12659/AJCR.946956","url":null,"abstract":"<p><p>BACKGROUND Mavacamten, a first-in-class cardiac myosin inhibitor, targets myosin adenosine triphosphatase to treat adults with moderate to severe symptomatic obstructive hypertrophic cardiomyopathy. Previous studies have demonstrated an approximate 50% reduction in left ventricular outflow tract pressure gradient in selected patients after 4 weeks of treatment. CASE REPORT We report the case of a 91-year-old man with hypertrophic cardiomyopathy, who presented with a longstanding history of progressive shortness of breath, unresponsive to treatment. After ruling out other potential causes such as coronary and pulmonary involvement, and performing serial ultrasound evaluations, we concluded that the worsening of his hypertrophic cardiomyopathy was the most likely underlying cause. After initiating Mavacamten therapy, the patient achieved a remarkable improvement, with over 80% reduction in left ventricular outflow tract obstruction observed within 4 weeks of treatment. He reports significant improvement in his shortness of breath both at rest and during daily activities. Dose titration and safety evaluation were performed through robust echocardiographic monitoring. CONCLUSIONS While our patient did not undergo genetic testing due to its high cost and limited clinical relevance, we believe that his remarkable response to this therapy may be linked to a genotype susceptibility enhancing the drug's pharmacodynamic effects, as suggested in the literature. This may have contributed to significant symptom relief and an improved quality of life. Further research is needed to better understand how genotype and phenotype influence treatment response, which could help refine our approach to optimizing non-invasive medical therapies.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e946956"},"PeriodicalIF":1.0,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12013959/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144033318","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}