Wessam Taifour, Yahia Ranjous, Milad Khoury, Haya Alshammy, Haitham Abbassi
{"title":"Cyclopia Syndrome with Neck Presentation: A Case of Alobar Holoprosencephaly and Prenatal Diagnostic Challenges.","authors":"Wessam Taifour, Yahia Ranjous, Milad Khoury, Haya Alshammy, Haitham Abbassi","doi":"10.2147/IMCRJ.S533051","DOIUrl":"10.2147/IMCRJ.S533051","url":null,"abstract":"<p><p>Alobar holoprosencephaly is the most severe and common subtype of holoprosencephaly (HPE), a developmental defect that arises during the embryonic period due to heterogeneous factors. This condition is characterized by incomplete development and separation of the forebrain, often accompanied by facial deformities, especially in severe cases. Most severe cases result in stillbirth or neonatal death shortly after delivery. We report a case of a 28-year-old multiparous woman who presented with preterm labor and preterm premature rupture of membranes (PPROM). Ultrasound imaging revealed fetal malformations consistent with alobar HPE, including cyclopia syndrome. The patient delivered a stillborn infant vaginally in an unusual neck presentation. We discuss the etiology of HPE, including potential contributing factors such as toxoplasmosis in our case, along with diagnostic and management considerations. Additionally, we highlight the special presented part of the infant during vaginal delivery and its possible reasons. Early prenatal diagnosis of cyclopia syndrome is crucial, as it significantly impacts family counseling regarding pregnancy continuation. It also underscores the need for additional genetic and serological viral tests to investigate potential underlying causes.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"893-898"},"PeriodicalIF":0.7,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12282531/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144690119","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 Transverse Myelitis in a Child Following Oral Live Polio Vaccine Administration.","authors":"Sergiy Kramarov, Liudmyla Palatna, Iryna Shpak, Iryna Seriakova, Liudmyla Zakordonets, Liudmyla Verbova, Oleksandr Molodetskyi, Liudmyla Myroniak, Tatiana Isayenko","doi":"10.2147/IMCRJ.S526156","DOIUrl":"10.2147/IMCRJ.S526156","url":null,"abstract":"<p><strong>Background: </strong>Transverse myelitis is an urgent medical problem all over the world. Acute transverse myelitis is more common in children than in adults. Postvaccinal transverse myelitis is a rare complication of vaccination. In vaccine-associated paralytic poliomyelitis, the virus mosaically infects the motor neurons of the anterior horns of the spinal cord, resulting in asymmetric paralysis of predominantly proximal muscles.</p><p><strong>Case presentation: </strong>The case of acute transverse myelitis in a 12-year-old child corresponds to the existing definition of a vaccine-associated paralytic poliomyelitis case: a temporal relationship between the onset of flaccid paralysis and the administration of oral polio vaccine and the duration of paralysis. The child developed flaccid paralysis 18 days after (August, 2024) the administration of oral polio vaccine and persisted for more than 60 days from the onset of the disease. Vaccine virus type 3 was isolated from the feces. However, the child received 2 doses of inactivated oral polio vaccine and 1 dose of bivalent (types 1 and 3) oral polio vaccine before the disease. The child did not have an increase in the titer of antibodies in paired sera to polioviruses types 1 and 3. Spinal cord magnetic resonance imaging revealed an intramedullary focus with hyperintense MR signal on 2WI, 2FS at the level of the spinal cord cone (Th<sub>11</sub>-L<sub>2</sub>), which spread across the entire diameter and unevenly accumulated paramagnetic. These changes were characteristic of acute transverse myelitis.</p><p><strong>Conclusion: </strong>This article presents a clinical case of Acute transverse myelitis in a child after administration of live oral polio vaccine. We aimed to emphasize the importance of differential diagnosis of myelitis in a child who received OPV. This is important from the point of view of epidemiological surveillance of poliomyelitis and possible adverse reactions after vaccination.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"899-907"},"PeriodicalIF":0.7,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12282539/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144690118","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}
Duaa Knaj, Ghanem Ahmad, Zuheir Alshehabi, Issa Yusuof Ahmad
{"title":"Metastatic Adamantinoma of Fibula to the Lungs: A Rare Case Report.","authors":"Duaa Knaj, Ghanem Ahmad, Zuheir Alshehabi, Issa Yusuof Ahmad","doi":"10.2147/IMCRJ.S535403","DOIUrl":"10.2147/IMCRJ.S535403","url":null,"abstract":"<p><strong>Background: </strong>Adamantinoma is a low-grade, primary malignant bone tumor commonly found in the tibia with or without fibular involvement.</p><p><strong>Case presentation: </strong>A 21-year-old female patient was admitted to the hospital with a mass on the upper lateral aspect of the left leg. She reported the onset of a small swelling in the left leg eight months prior to admission. It has gradually increased in size to involve the upper leg and part of the knee. The patient had limited range of motion in the knee joint and difficulty leaning on the affected limb. Radiographs showed a cortical-destroying osteolytic lesion at the head of the fibula extending into the surrounding soft tissue. Ultrasound imaging showed a mixed echo formation with indistinct borders and multiple chambers separated by trabeculae demonstrating blood flow. MRI revealed the absence of the fibular head as evidenced by cortical destruction and extension into adjacent soft tissue. CT scan showed a 12×13 cm mass in the left popliteal region extending to the knee margin. Enlarged lymph nodes were noted in the left groin. Multiple small metastases were observed in the lungs. Histologically, atypical epithelial cells and stromal spindle cells were observed. CK and CK19 staining was positive. The patient was treated with Sunitinib 50 mg orally, once daily for 4 weeks, followed by 2 weeks off for 2 cycles. During treatment (after 2 cycles) the tumor showed progressive growth, resulting in decreased function of the affected limb. She was referred to the surgical department where the appropriate surgical amputation was performed. After surgery, the patient's general condition improved. A further CT scan revealed a slight progression of metastatic lesions in the lungs, which prompted the decision to administer chemotherapy, but she refused to continue the treatment and did not receive chemotherapy. Two months later, she presented to the hospital in poor general condition. CT scan revealed extensive and progressive lesions in both lungs, leading to chest pain, hemoptysis, and hypoxia. Despite supportive care, the patient eventually died.</p><p><strong>Conclusion: </strong>This case report presents a rare case of metastatic adamantinoma that did not respond to treatment with Sunitinib.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"909-914"},"PeriodicalIF":0.7,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12282602/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144690120","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}
Safio Ahmed Hussein, Ahmed Issak Hussein, Abdikarim Ali Omar, Mohamed Omar Hirsi, Najma Adan Mohamed, Abdirashid Abdullahi Dalmar, Hanan Hassan Hirei, Sowdo Nur Iyow
{"title":"Ovarian Yolk Sac Tumor in a Young Girl in a Resource-Limited Setting: A Rare Case Report From Somalia.","authors":"Safio Ahmed Hussein, Ahmed Issak Hussein, Abdikarim Ali Omar, Mohamed Omar Hirsi, Najma Adan Mohamed, Abdirashid Abdullahi Dalmar, Hanan Hassan Hirei, Sowdo Nur Iyow","doi":"10.2147/IMCRJ.S518785","DOIUrl":"10.2147/IMCRJ.S518785","url":null,"abstract":"<p><p>Ovarian yolk sac tumors, accounting for less than 1% of all malignant ovarian germ cell tumors, primarily affect adolescents and young women. These tumors are typically unilateral, making fertility preservation a critical consideration. Despite their rarity, they generally respond well to chemotherapy, leading to a favorable prognosis. This report describes a 21-year-old woman presenting with abdominal pain and distension. Imaging revealed a substantial pelvic mass, with alpha-fetoprotein (AFP) levels elevated to 2258 mg/mL. She underwent a left salpingo-oophorectomy, and histopathology confirmed the presence of an ovarian yolk sac tumor. Timely diagnosis and treatment play a crucial role in patient outcomes. This case underscores the diagnostic and therapeutic challenges in a resource-constrained setting with limited access to chemotherapy necessitating transfer of most patients to abroad for oncology centers, making difficult for follow up and surveillance of patients, highlighting the pivotal role of surgical management and ongoing monitoring.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"887-891"},"PeriodicalIF":0.7,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12278962/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144682618","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":"A Traumatic and Infected Left Ventricular Pseudoaneurysm 2 years After the Explantation of a Bridge-to-Recovery Left Ventricular Assist Device.","authors":"Usama Aziz, Mihai Strachinaru","doi":"10.2147/IMCRJ.S517668","DOIUrl":"10.2147/IMCRJ.S517668","url":null,"abstract":"<p><p>Left ventricular assist devices (LVADs) have become an important modality of treatment in advanced heart failure, serving sometimes as a bridge to recovery. A subject in his 30s with alcohol-induced dilated cardiomyopathy underwent LVAD implantation following severe cardiac dysfunction. After six years, a sufficient myocardial recovery led to successful LVAD explantation. 2 years post-explant, the patient continued high-risk lifestyle behaviors (like smoking and drinking alcohol) and eventually developed a left thoracic pseudoaneurysm due to a fall with left chest trauma. Surgical repair revealed infection, treated with targeted antibiotics. This case shows a rare echocardiographic presentation and underscores the complexities of LVAD explantation, particularly in patients continuing high-risk lifestyle behaviors. To our knowledge, an infected left ventricular pseudoaneurysm complicating LVAD explantation has not previously been reported. Thus, its management and long-term outcomes could not be assessed using evidence-based guidelines.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"883-886"},"PeriodicalIF":0.7,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12258252/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144637013","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}
Norah K Algarzae, Hend M Alotaibi, Ahmed H Alajlan, Muneera R AlSaleh, Alanoud A Alsalman
{"title":"Hepatotoxicity Induced by Adalimumab in Chronic Plaque Psoriasis Patient: A Case Report.","authors":"Norah K Algarzae, Hend M Alotaibi, Ahmed H Alajlan, Muneera R AlSaleh, Alanoud A Alsalman","doi":"10.2147/IMCRJ.S536412","DOIUrl":"10.2147/IMCRJ.S536412","url":null,"abstract":"<p><strong>Introduction: </strong>Adalimumab is a TNF-α antagonist used to treat psoriasis and rheumatologic conditions; it can rarely cause hepatotoxicity manifesting as elevated liver enzymes.</p><p><strong>Case presentation: </strong>Here, we present a case of a 24-year-old female with chronic plaque psoriasis with no history of liver disease or any risk factor for liver disease who developed a drug-induced liver injury upon treatment initiation with Adalimumab. This case report highlights the importance of monitoring liver function tests in patients receiving Adalimumab, early recognition, and prompt medication dosage adjustment or discontinuation. Early diagnosis and treatment of chronic plaque psoriasis is critical for improving prognosis, especially in the case of increased risk factors of liver disease due to the administration of Adalimumab.</p><p><strong>Conclusion: </strong>Our case presented a patient with no history of liver disease; however, she developed a drug-induced liver injury. Therefore, this case report is the first to emphasize the need for early recognition of LFTs upon Adalimumab administration, and prompt medication dosage adjustment or discontinuation is essential in patients receiving Adalimumab.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"877-881"},"PeriodicalIF":0.7,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12256697/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144637014","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":"Epidermal Cyst Instead of Baker's Cyst in the Popliteal Fossa: A Case Report and Literature Review.","authors":"Arowa H Alansari, Mohammed S Beshr","doi":"10.2147/IMCRJ.S514251","DOIUrl":"10.2147/IMCRJ.S514251","url":null,"abstract":"<p><strong>Background: </strong>Epidermal cysts are usually found in the head, neck, and trunk, and they are very rare to be found in the popliteal fossa. Baker's cyst is the most common cause of popliteal fossa swelling. To our knowledge, this is the seventh reported case of an epidermal inclusion cyst in the knee area.</p><p><strong>Case presentation: </strong>A 39-year-old male presented with popliteal swelling that had been present since 2016. It was not associated with pain or restriction of movement. On examination, the swelling was firm, well-capsulated, freely mobile, and not fixed to the underlying structure. There was no tenderness, warmth, or any signs of inflammation. The MRI revealed a 1.5×3 cm circumscribed subcutaneous lesion with low T1 and intermediate T2W signal, with normal adjacent joint structures. A total excision was performed, and the pathology report confirmed the diagnosis of epidermal inclusion cyst.</p><p><strong>Conclusion: </strong>Popliteal fossa masses are commonly due to Baker's cysts. Other pathologies should be considered when the presentation is atypical, unclear, or not supported by imaging. Our literature search highlighted the rare occurrence of epidermal cysts around the knee joint. Long-standing asymptomatic popliteal swellings that are either stable or progressive should raise suspicion of alternative pathologies.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"869-875"},"PeriodicalIF":0.7,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12256055/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626303","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":"Platelet-Rich Plasma Therapy in Premature Ovarian Insufficiency: A Case Series of IVF Outcomes.","authors":"Rina Nulianti, Syahnural Lubis, Tita Husnitawati Madjid, Wiryawan Permadi, Putri Nadhira Adinda Adriansyah, Aisyah Shofiatun Nisa","doi":"10.2147/IMCRJ.S527318","DOIUrl":"10.2147/IMCRJ.S527318","url":null,"abstract":"<p><strong>Introduction: </strong>Premature ovarian insufficiency (POI) leads to the early loss of ovarian function before age 40, resulting in infertility and hormonal imbalance. Despite the use of assisted reproductive technologies (ART), success rates remain low in this population. Platelet-rich plasma (PRP) therapy is emerging as a potential adjunct to enhance ovarian reserve.</p><p><strong>Case illustrationcase 1: </strong>A 25-year-old nulliparous woman with a history of ectopic pregnancy and an anti-Müllerian hormone (AMH) level below 1 ng/mL received two PRP injections scheduled between days 7 to 12 of her cycle. After the first injection, her AMH level remained <0.5 ng/mL. Following the second PRP injection, her AMH level increased to >0.5 ng/mL. A frozen embryo transfer resulted in a successful term pregnancy and healthy newborn.</p><p><strong>Case 2: </strong>A 36-year-old nulliparous woman, married for seven years, also presented POI and AMH levels <1 ng/mL followed the same PRP and IVF protocol. After two PRP sessions, her AMH levels improved similarly to Case 1. Despite an initial pregnancy, the patient experienced pregnancy loss.</p><p><strong>Conclusion: </strong>These findings suggest that PRP may improve ovarian response in women with POI undergoing IVF. Further studies are warranted.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"859-867"},"PeriodicalIF":0.7,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12255267/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626224","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}
Loulwah Alothman, Azizah Bin Mubayrik, Nuha Alfurayh, Sara Aldosary, Hend M Alotaibi, Abdulmajeed Alajlan
{"title":"Multidisciplinary Management of Paraneoplastic Pemphigus Associated with B-Cell Lymphoma: A Case Report.","authors":"Loulwah Alothman, Azizah Bin Mubayrik, Nuha Alfurayh, Sara Aldosary, Hend M Alotaibi, Abdulmajeed Alajlan","doi":"10.2147/IMCRJ.S515068","DOIUrl":"10.2147/IMCRJ.S515068","url":null,"abstract":"<p><strong>Background: </strong>Paraneoplastic pemphigus is a rare life-threatening blistering autoimmune mucocutaneous disease associated with various neoplasms. In contrast to the skin, mucosal lesions are refractory and requires considerable healing time, heals far more slowly. A multidisciplinary approach may provide a comprehensive management and a better prognosis.</p><p><strong>Case summary: </strong>A sixty-one-year-old male patient presented to the ER department in June 2020 complaining of severe inflammation of the left eye along with scaly erythematous skin eruptions affecting the hands, trunk, and feet. Subungual hematoma was also observed. Clinical examination revealed extensive oral ulceration involving the dorsum and ventral surface of the tongue, buccal mucosa, labial mucosa, and hematic crusts were noticed on the lips. The patient was admitted for panophthalmitis secondary to a perforated corneal ulcer. Dermatological investigations were requested in addition to extensive baseline studies to rule out malignancies. The patient had a retroperitoneal lesion and underwent CT guided biopsy. Result was suggestive of low-grade B cell non-Hodgkin's lymphoma. He was treated by the haematology-oncology, dermatology and oral medicine teams.</p><p><strong>Conclusion: </strong>Paraneoplastic pemphigus (PP) is a fatal autoimmune blistering disease associated with underlying malignancy. A multidisciplinary approach to achieve early diagnosis and better management is essential to improve the quality of life of such patients despite their poor prognosis.</p><p><strong>Clinical significance: </strong>Paraneoplastic pemphigus is a rare disease associated with mucocutaneous ulcerations and various malignancies, including lymphoproliferative neoplasms. As demonstrated in the current case, multidisciplinary assessment and management have proven to be effective in managing the patient. Physicians and dentists should make their best effort to work collaboratively to manage patients and minimize patient distress and improve life quality and prognosis.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"851-857"},"PeriodicalIF":0.7,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12255323/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626304","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}
Jiamin Xu, Changshou Tan, Jianzhou Chen, Jiaxin Hu
{"title":"Progressive Deterioration of the Right Ventricular Function in a Patient with Non-Obstructive HCM Complicated by Atrial Fibrillation: A Case Presentation.","authors":"Jiamin Xu, Changshou Tan, Jianzhou Chen, Jiaxin Hu","doi":"10.2147/IMCRJ.S529591","DOIUrl":"10.2147/IMCRJ.S529591","url":null,"abstract":"<p><strong>Background: </strong>Hypertrophic cardiomyopathy (HCM) is a prevalent monogenic hereditary cardiovascular disorder caused by a mutation in one of the several sarcomere genes encoding components of the cardiac contractile system, distinguished by varied phenotypic presentation and fluctuating clinical advancement. HCM typically affects the left ventricle, resulting in impaired left ventricular function, instances of impaired right ventricular function are uncommon. This case study presents a rare occurrence of HCM accompanied by deteriorating right ventricular function, providing valuable insights for clinicians.</p><p><strong>Case presentation: </strong>Herein, we present a case study of an individual diagnosed with HCM utilizing next-generation sequencing (NGS). Over the disease course, the patient with hypertrophic cardiomyopathy also presented with sustained atrial fibrillation, characterized by progressive right ventricular dysfunction, resulting in the development of peripheral edema and ascites.</p><p><strong>Conclusion: </strong>We report the case of a patient with non-obstructive HCM exhibiting progressive decline in right heart function, confirmed to have the c.470C>T (p.Ala157Val) mutation in exon 7 of the TNNI3 gene.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"837-843"},"PeriodicalIF":0.7,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254914/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626225","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}