首页 > 最新文献

Cardiology and Angiology: An International Journal最新文献

英文 中文
Type A Aortic Dissection: A Call for Vigilance in Chest Pain Diagnosis A 型主动脉夹层:呼吁警惕胸痛诊断
Pub Date : 2024-02-24 DOI: 10.9734/ca/2024/v13i1397
Zahri S, Khaldi M, El Jaouhari Z, Zeroual MA, Bouziane M, Haboub M, Arous S, Bennouna G, Drighil A, Azzouzi L, Habbal R.
Introduction: Acute aortic dissection (AD) is a rare and life-threatening condition associated with high mortality rates in the absence of prompt intervention. This article provides an in-depth examination of the clinical presentation, diagnostic approach, and management of Stanford type A AD in a 62-year-old hypertensive female patient with atypical symptoms. Case Report: The patient presented with retrosternal chest pain and rapidly worsening dyspnea, demonstrating a 3/6 diastolic murmur over the aortic area. Diagnostic findings included negative T-waves on ECG, significant mediastinal widening on chest X-ray, and transthoracic echocardiography revealing an intimal flap, ascending aorta dilation, and acute aortic insufficiency. Computed tomography confirmed a Stanford type A aortic dissection. Discussion: Acute AD poses a diagnostic challenge, as atypical presentations can lead to misdiagnoses. The case emphasizes the importance of considering AD in the differential diagnosis of chest pain and conducting thorough investigations, especially when faced with unusual symptoms. Management strategies, encompassing both pharmacological and surgical interventions, are crucial for addressing AD promptly. Conclusion: This case underscores the significance of recognizing both typical and atypical presentations of AD to ensure timely intervention and avoid potentially catastrophic outcomes. A comprehensive understanding of diagnostic approaches and management protocols is essential in the emergency setting. Overall, this article contributes to the growing body of knowledge surrounding acute aortic dissection and emphasizes the critical need for awareness and rapid intervention in clinical practice.
简介:急性主动脉夹层(AD)是一种罕见的危及生命的疾病,如不及时干预,死亡率很高。本文对一名 62 岁的高血压女性患者斯坦福 A 型主动脉夹层的临床表现、诊断方法和处理进行了深入探讨,该患者症状不典型。病例报告:患者出现胸骨后胸痛和急剧恶化的呼吸困难,主动脉区域出现 3/6 舒张期杂音。诊断结果包括心电图 T 波阴性,胸部 X 光片显示纵隔明显增宽,经胸超声心动图显示内膜瓣、升主动脉扩张和急性主动脉瓣关闭不全。计算机断层扫描证实为斯坦福 A 型主动脉夹层。讨论:急性主动脉瓣狭窄是一项诊断挑战,因为不典型的表现可能导致误诊。该病例强调了在胸痛的鉴别诊断中考虑 AD 和进行彻底检查的重要性,尤其是在出现异常症状时。包括药物和手术干预在内的管理策略对于及时处理 AD 至关重要。结论:本病例强调了识别 AD 典型和非典型表现的重要性,以确保及时干预并避免潜在的灾难性后果。在急诊环境中,全面了解诊断方法和管理方案至关重要。总之,这篇文章有助于加深人们对急性主动脉夹层的了解,并强调了在临床实践中提高认识和快速干预的关键需求。
{"title":"Type A Aortic Dissection: A Call for Vigilance in Chest Pain Diagnosis","authors":"Zahri S, Khaldi M, El Jaouhari Z, Zeroual MA, Bouziane M, Haboub M, Arous S, Bennouna G, Drighil A, Azzouzi L, Habbal R.","doi":"10.9734/ca/2024/v13i1397","DOIUrl":"https://doi.org/10.9734/ca/2024/v13i1397","url":null,"abstract":"Introduction: Acute aortic dissection (AD) is a rare and life-threatening condition associated with high mortality rates in the absence of prompt intervention. This article provides an in-depth examination of the clinical presentation, diagnostic approach, and management of Stanford type A AD in a 62-year-old hypertensive female patient with atypical symptoms. \u0000Case Report: The patient presented with retrosternal chest pain and rapidly worsening dyspnea, demonstrating a 3/6 diastolic murmur over the aortic area. Diagnostic findings included negative T-waves on ECG, significant mediastinal widening on chest X-ray, and transthoracic echocardiography revealing an intimal flap, ascending aorta dilation, and acute aortic insufficiency. Computed tomography confirmed a Stanford type A aortic dissection. \u0000Discussion: Acute AD poses a diagnostic challenge, as atypical presentations can lead to misdiagnoses. The case emphasizes the importance of considering AD in the differential diagnosis of chest pain and conducting thorough investigations, especially when faced with unusual symptoms. Management strategies, encompassing both pharmacological and surgical interventions, are crucial for addressing AD promptly. \u0000Conclusion: This case underscores the significance of recognizing both typical and atypical presentations of AD to ensure timely intervention and avoid potentially catastrophic outcomes. A comprehensive understanding of diagnostic approaches and management protocols is essential in the emergency setting. Overall, this article contributes to the growing body of knowledge surrounding acute aortic dissection and emphasizes the critical need for awareness and rapid intervention in clinical practice.","PeriodicalId":505403,"journal":{"name":"Cardiology and Angiology: An International Journal","volume":"38 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140435232","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Thyrotoxic Valvulopathy in a 7-year-Old Child: Case Report and Literature Review 一名 7 岁儿童的甲亢瓣膜病:病例报告和文献综述
Pub Date : 2024-02-13 DOI: 10.9734/ca/2024/v13i1396
Ujunwa FA, Ohuche Ijeoma, Eke Cb, Chikani U, Chinawa Jm
Introduction: Children with thyrotoxicosis may present rarely with valvulopathies. This disease is a syndrome complex of hyperdynamic status due to systemic manifestation of elevated circulating thyroid hormone levels.  Case Reports: O.C, a 7-year-old female child presented with abdominal pain that started seven days ago, passage of loose stool that started five days ago and weight loss that started five days ago. Salient findings at presentation were tachycardia, anterior neck swelling that moves with swallowing with a grade 3/6 pan-systolic murmur maximal at the apex. A diagnosis of hyperthyroidism at risk of thyrotoxicosis was made based on supported laboratory evidence. Echocardiography done showed severe mitral regurgitation. She is on Tabs Carbimazole and Propranolol. She has improved remarkably and has been on follow up. Conclusion: Hyperthyoidism affects multiple organ systems in the body and the heart is not spared. Most of the cardiac manifestations are functional and occur as a result of the hyperfunctioning gland. A high index of suspicion is required, as many of the patients present with only the consequences of hyperthyroidism.
简介甲亢患儿很少会出现瓣膜病。这种疾病是由于循环甲状腺激素水平升高而引起的全身性高动力状态综合征。 病例报告:O.C是一名7岁女童,7天前开始腹痛,5天前开始排稀便,5天前开始体重下降。就诊时的突出表现是心动过速、颈部前部肿胀,吞咽时肿胀会移动,伴有 3/6 级泛收缩期杂音,以心尖处最大。根据实验室证据,诊断为甲状腺功能亢进,有甲状腺中毒的风险。超声心动图显示二尖瓣严重反流。她正在服用卡比马唑和普萘洛尔片。她的病情明显好转,并一直接受随访。结论类脂质过剩症会影响人体多个器官系统,心脏也不能幸免。大多数心脏表现是功能性的,是腺体功能亢进的结果。由于许多患者仅表现为甲状腺功能亢进的后遗症,因此需要高度怀疑。
{"title":"Thyrotoxic Valvulopathy in a 7-year-Old Child: Case Report and Literature Review","authors":"Ujunwa FA, Ohuche Ijeoma, Eke Cb, Chikani U, Chinawa Jm","doi":"10.9734/ca/2024/v13i1396","DOIUrl":"https://doi.org/10.9734/ca/2024/v13i1396","url":null,"abstract":"Introduction: Children with thyrotoxicosis may present rarely with valvulopathies. This disease is a syndrome complex of hyperdynamic status due to systemic manifestation of elevated circulating thyroid hormone levels.  \u0000Case Reports: O.C, a 7-year-old female child presented with abdominal pain that started seven days ago, passage of loose stool that started five days ago and weight loss that started five days ago. Salient findings at presentation were tachycardia, anterior neck swelling that moves with swallowing with a grade 3/6 pan-systolic murmur maximal at the apex. A diagnosis of hyperthyroidism at risk of thyrotoxicosis was made based on supported laboratory evidence. Echocardiography done showed severe mitral regurgitation. She is on Tabs Carbimazole and Propranolol. She has improved remarkably and has been on follow up. \u0000Conclusion: Hyperthyoidism affects multiple organ systems in the body and the heart is not spared. Most of the cardiac manifestations are functional and occur as a result of the hyperfunctioning gland. A high index of suspicion is required, as many of the patients present with only the consequences of hyperthyroidism.","PeriodicalId":505403,"journal":{"name":"Cardiology and Angiology: An International Journal","volume":"378 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139841588","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Thyrotoxic Valvulopathy in a 7-year-Old Child: Case Report and Literature Review 一名 7 岁儿童的甲亢瓣膜病:病例报告和文献综述
Pub Date : 2024-02-13 DOI: 10.9734/ca/2024/v13i1396
Ujunwa FA, Ohuche Ijeoma, Eke Cb, Chikani U, Chinawa Jm
Introduction: Children with thyrotoxicosis may present rarely with valvulopathies. This disease is a syndrome complex of hyperdynamic status due to systemic manifestation of elevated circulating thyroid hormone levels.  Case Reports: O.C, a 7-year-old female child presented with abdominal pain that started seven days ago, passage of loose stool that started five days ago and weight loss that started five days ago. Salient findings at presentation were tachycardia, anterior neck swelling that moves with swallowing with a grade 3/6 pan-systolic murmur maximal at the apex. A diagnosis of hyperthyroidism at risk of thyrotoxicosis was made based on supported laboratory evidence. Echocardiography done showed severe mitral regurgitation. She is on Tabs Carbimazole and Propranolol. She has improved remarkably and has been on follow up. Conclusion: Hyperthyoidism affects multiple organ systems in the body and the heart is not spared. Most of the cardiac manifestations are functional and occur as a result of the hyperfunctioning gland. A high index of suspicion is required, as many of the patients present with only the consequences of hyperthyroidism.
简介甲亢患儿很少会出现瓣膜病。这种疾病是由于循环甲状腺激素水平升高而引起的全身性高动力状态综合征。 病例报告:O.C是一名7岁女童,7天前开始腹痛,5天前开始排稀便,5天前开始体重下降。就诊时的突出表现是心动过速、颈部前部肿胀,吞咽时肿胀会移动,伴有 3/6 级泛收缩期杂音,以心尖处最大。根据实验室证据,诊断为甲状腺功能亢进,有甲状腺中毒的风险。超声心动图显示二尖瓣严重反流。她正在服用卡比马唑片和普萘洛尔。她的病情明显好转,并一直在接受随访。结论类脂质过剩症会影响人体多个器官系统,心脏也不能幸免。大多数心脏表现是功能性的,是腺体功能亢进的结果。由于许多患者仅表现为甲状腺功能亢进的后遗症,因此需要高度怀疑。
{"title":"Thyrotoxic Valvulopathy in a 7-year-Old Child: Case Report and Literature Review","authors":"Ujunwa FA, Ohuche Ijeoma, Eke Cb, Chikani U, Chinawa Jm","doi":"10.9734/ca/2024/v13i1396","DOIUrl":"https://doi.org/10.9734/ca/2024/v13i1396","url":null,"abstract":"Introduction: Children with thyrotoxicosis may present rarely with valvulopathies. This disease is a syndrome complex of hyperdynamic status due to systemic manifestation of elevated circulating thyroid hormone levels.  \u0000Case Reports: O.C, a 7-year-old female child presented with abdominal pain that started seven days ago, passage of loose stool that started five days ago and weight loss that started five days ago. Salient findings at presentation were tachycardia, anterior neck swelling that moves with swallowing with a grade 3/6 pan-systolic murmur maximal at the apex. A diagnosis of hyperthyroidism at risk of thyrotoxicosis was made based on supported laboratory evidence. Echocardiography done showed severe mitral regurgitation. She is on Tabs Carbimazole and Propranolol. She has improved remarkably and has been on follow up. \u0000Conclusion: Hyperthyoidism affects multiple organ systems in the body and the heart is not spared. Most of the cardiac manifestations are functional and occur as a result of the hyperfunctioning gland. A high index of suspicion is required, as many of the patients present with only the consequences of hyperthyroidism.","PeriodicalId":505403,"journal":{"name":"Cardiology and Angiology: An International Journal","volume":"45 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139781742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Comprehensive Review on Biomarker and Its Role in Diseases 生物标志物及其在疾病中的作用综述
Pub Date : 2024-02-08 DOI: 10.9734/ca/2024/v13i1395
V. Sireesha, Faiqua Fatima, Shafeen Sultana, Mutta Shiva Sai Kumar, Y. Pravarsha, Rama Rao Tatikonda
Biomarkers are essential to clinical practice. Understanding the organized definition, types, and roles of biomarkers in various clinical phases and diseases is crucial for understanding the significance of biomarkers in healthcare and medical research. This data highlights the significance of biomarkers in prognosis prediction, therapeutic decision guidance, and the advancement of personalized medicine, in addition to their role in illness diagnosis. The division of biomarkers into molecular, cellular, and imaging types offers a thorough summary of the various modalities that are employed in biomarker research. In addition, the segmentation according to clinical phases, which differentiates between prognostic, therapeutic, and diagnostic biomarkers, deepens the conversation by emphasizing the diverse functions that biomarkers fulfill in patient treatment. In the diagnosis, prognosis and treatment of a wide range of diseases, biomarkers are a component of a relatively new and perfect clinical instrument. Using biomarkers to research different aspects of diseases, develop new drugs, and track possible therapeutic intervention results has many advantages. They contribute to drug development, personalized medicine, and therapeutic interventions. The aim is to develop biomarkers with higher sensitivity and specificity to enhance decision-making and simplify the drug development process, add depth to the discussion, emphasizing the varied roles of biomarkers in patient care.
生物标志物对临床实践至关重要。了解生物标志物在不同临床阶段和疾病中的定义、类型和作用,对于理解生物标志物在医疗保健和医学研究中的意义至关重要。这些数据强调了生物标志物除了在疾病诊断中的作用外,在预后预测、治疗决策指导和个性化医疗发展中的意义。生物标记物分为分子、细胞和成像类型,对生物标记物研究中采用的各种方式进行了全面总结。此外,根据临床阶段对生物标记物进行细分,将其分为预后性、治疗性和诊断性生物标记物,通过强调生物标记物在患者治疗中的不同功能,加深了对话的深度。在多种疾病的诊断、预后和治疗中,生物标志物是一种相对较新且完善的临床工具的组成部分。利用生物标志物来研究疾病的不同方面、开发新药和跟踪可能的治疗干预结果具有很多优势。它们有助于药物开发、个性化医疗和治疗干预。我们的目标是开发具有更高灵敏度和特异性的生物标志物,以加强决策和简化药物开发过程,并增加讨论的深度,强调生物标志物在患者护理中的各种作用。
{"title":"A Comprehensive Review on Biomarker and Its Role in Diseases","authors":"V. Sireesha, Faiqua Fatima, Shafeen Sultana, Mutta Shiva Sai Kumar, Y. Pravarsha, Rama Rao Tatikonda","doi":"10.9734/ca/2024/v13i1395","DOIUrl":"https://doi.org/10.9734/ca/2024/v13i1395","url":null,"abstract":"Biomarkers are essential to clinical practice. Understanding the organized definition, types, and roles of biomarkers in various clinical phases and diseases is crucial for understanding the significance of biomarkers in healthcare and medical research. This data highlights the significance of biomarkers in prognosis prediction, therapeutic decision guidance, and the advancement of personalized medicine, in addition to their role in illness diagnosis. \u0000The division of biomarkers into molecular, cellular, and imaging types offers a thorough summary of the various modalities that are employed in biomarker research. In addition, the segmentation according to clinical phases, which differentiates between prognostic, therapeutic, and diagnostic biomarkers, deepens the conversation by emphasizing the diverse functions that biomarkers fulfill in patient treatment. \u0000In the diagnosis, prognosis and treatment of a wide range of diseases, biomarkers are a component of a relatively new and perfect clinical instrument. Using biomarkers to research different aspects of diseases, develop new drugs, and track possible therapeutic intervention results has many advantages. They contribute to drug development, personalized medicine, and therapeutic interventions. The aim is to develop biomarkers with higher sensitivity and specificity to enhance decision-making and simplify the drug development process, add depth to the discussion, emphasizing the varied roles of biomarkers in patient care.","PeriodicalId":505403,"journal":{"name":"Cardiology and Angiology: An International Journal","volume":"32 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139852372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Comprehensive Review on Biomarker and Its Role in Diseases 生物标志物及其在疾病中的作用综述
Pub Date : 2024-02-08 DOI: 10.9734/ca/2024/v13i1395
V. Sireesha, Faiqua Fatima, Shafeen Sultana, Mutta Shiva Sai Kumar, Y. Pravarsha, Rama Rao Tatikonda
Biomarkers are essential to clinical practice. Understanding the organized definition, types, and roles of biomarkers in various clinical phases and diseases is crucial for understanding the significance of biomarkers in healthcare and medical research. This data highlights the significance of biomarkers in prognosis prediction, therapeutic decision guidance, and the advancement of personalized medicine, in addition to their role in illness diagnosis. The division of biomarkers into molecular, cellular, and imaging types offers a thorough summary of the various modalities that are employed in biomarker research. In addition, the segmentation according to clinical phases, which differentiates between prognostic, therapeutic, and diagnostic biomarkers, deepens the conversation by emphasizing the diverse functions that biomarkers fulfill in patient treatment. In the diagnosis, prognosis and treatment of a wide range of diseases, biomarkers are a component of a relatively new and perfect clinical instrument. Using biomarkers to research different aspects of diseases, develop new drugs, and track possible therapeutic intervention results has many advantages. They contribute to drug development, personalized medicine, and therapeutic interventions. The aim is to develop biomarkers with higher sensitivity and specificity to enhance decision-making and simplify the drug development process, add depth to the discussion, emphasizing the varied roles of biomarkers in patient care.
生物标志物对临床实践至关重要。了解生物标志物在不同临床阶段和疾病中的定义、类型和作用,对于理解生物标志物在医疗保健和医学研究中的意义至关重要。这些数据强调了生物标志物除了在疾病诊断中的作用外,在预后预测、治疗决策指导和个性化医疗发展中的意义。生物标记物分为分子、细胞和成像类型,对生物标记物研究中采用的各种方式进行了全面总结。此外,根据临床阶段对生物标记物进行细分,将其分为预后性、治疗性和诊断性生物标记物,通过强调生物标记物在患者治疗中的不同功能,加深了对话的深度。在多种疾病的诊断、预后和治疗中,生物标志物是一种相对较新且完善的临床工具的组成部分。利用生物标志物来研究疾病的不同方面、开发新药和跟踪可能的治疗干预结果具有很多优势。它们有助于药物开发、个性化医疗和治疗干预。我们的目标是开发具有更高灵敏度和特异性的生物标志物,以加强决策和简化药物开发过程,并增加讨论的深度,强调生物标志物在患者护理中的各种作用。
{"title":"A Comprehensive Review on Biomarker and Its Role in Diseases","authors":"V. Sireesha, Faiqua Fatima, Shafeen Sultana, Mutta Shiva Sai Kumar, Y. Pravarsha, Rama Rao Tatikonda","doi":"10.9734/ca/2024/v13i1395","DOIUrl":"https://doi.org/10.9734/ca/2024/v13i1395","url":null,"abstract":"Biomarkers are essential to clinical practice. Understanding the organized definition, types, and roles of biomarkers in various clinical phases and diseases is crucial for understanding the significance of biomarkers in healthcare and medical research. This data highlights the significance of biomarkers in prognosis prediction, therapeutic decision guidance, and the advancement of personalized medicine, in addition to their role in illness diagnosis. \u0000The division of biomarkers into molecular, cellular, and imaging types offers a thorough summary of the various modalities that are employed in biomarker research. In addition, the segmentation according to clinical phases, which differentiates between prognostic, therapeutic, and diagnostic biomarkers, deepens the conversation by emphasizing the diverse functions that biomarkers fulfill in patient treatment. \u0000In the diagnosis, prognosis and treatment of a wide range of diseases, biomarkers are a component of a relatively new and perfect clinical instrument. Using biomarkers to research different aspects of diseases, develop new drugs, and track possible therapeutic intervention results has many advantages. They contribute to drug development, personalized medicine, and therapeutic interventions. The aim is to develop biomarkers with higher sensitivity and specificity to enhance decision-making and simplify the drug development process, add depth to the discussion, emphasizing the varied roles of biomarkers in patient care.","PeriodicalId":505403,"journal":{"name":"Cardiology and Angiology: An International Journal","volume":" 34","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139792463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hypercholesterolemia Familial: Early Cardiovascular Complications, Treatment Challenges, and the Fatal Consequences of Delayed Diagnosis: an in-Depth Case Study 家族性高胆固醇血症:早期心血管并发症、治疗难题和延迟诊断的致命后果:深入病例研究
Pub Date : 2024-02-06 DOI: 10.9734/ca/2024/v13i1394
Mina Boutgourine, Hafssa Rouam, M. E. Jamili, M. Hattaoui
Familial Hypercholesterolemia (FH) is among the most common genetic disorders, present from birth. The transmission is mainly autosomal dominant. It is characterized by a exclusive increase in low-density lipoproteins (LDL). It is associated with a high risk of premature cardiovascular complications. The diagnosis of FH is generally based on the clinical presentation or genetic tests. The commonly used criteria are those of the Dutch Lipid Clinic Network. FH is a hereditary condition still largely underdiagnosed and undertreated. The prognosis of the disease is related to atheromatous cardiovascular complications, which, in the absence of treatment, lead to the patient's death in the first three decades, often due to myocardial infarction or sudden death. The management of familial hypercholesterolemia systematically involves two categories of measures: so-called hygienic-dietary measures associated with the treatment of other risk factors when they exist, and drug treatments. Familial hypercholesterolemia is still poorly detected. It is necessary to develop systematic approaches to identify patients with FH, conduct cascade screening of their relatives, and increase awareness and control of FH.
家族性高胆固醇血症(FH)是最常见的遗传疾病之一,从出生时就存在。其遗传方式主要为常染色体显性遗传。其特征是低密度脂蛋白(LDL)的独家增加。它与过早出现心血管并发症的高风险有关。FH 的诊断一般基于临床表现或基因检测。常用的标准是荷兰血脂诊所网络的标准。高血脂症是一种遗传性疾病,在很大程度上仍未得到充分诊断和治疗。该病的预后与动脉粥样硬化性心血管并发症有关,在缺乏治疗的情况下,这些并发症会导致患者在头三十年内死亡,通常是由于心肌梗死或猝死。家族性高胆固醇血症的治疗主要包括两类措施:一类是所谓的卫生饮食措施,如果存在其他危险因素,则与治疗这些因素相关;另一类是药物治疗。家族性高胆固醇血症的发现率仍然很低。有必要制定系统的方法来识别家族性高胆固醇血症患者,对其亲属进行逐级筛查,并提高对家族性高胆固醇血症的认识和控制。
{"title":"Hypercholesterolemia Familial: Early Cardiovascular Complications, Treatment Challenges, and the Fatal Consequences of Delayed Diagnosis: an in-Depth Case Study","authors":"Mina Boutgourine, Hafssa Rouam, M. E. Jamili, M. Hattaoui","doi":"10.9734/ca/2024/v13i1394","DOIUrl":"https://doi.org/10.9734/ca/2024/v13i1394","url":null,"abstract":"Familial Hypercholesterolemia (FH) is among the most common genetic disorders, present from birth. The transmission is mainly autosomal dominant. It is characterized by a exclusive increase in low-density lipoproteins (LDL). It is associated with a high risk of premature cardiovascular complications. The diagnosis of FH is generally based on the clinical presentation or genetic tests. The commonly used criteria are those of the Dutch Lipid Clinic Network. FH is a hereditary condition still largely underdiagnosed and undertreated. The prognosis of the disease is related to atheromatous cardiovascular complications, which, in the absence of treatment, lead to the patient's death in the first three decades, often due to myocardial infarction or sudden death. The management of familial hypercholesterolemia systematically involves two categories of measures: so-called hygienic-dietary measures associated with the treatment of other risk factors when they exist, and drug treatments. Familial hypercholesterolemia is still poorly detected. It is necessary to develop systematic approaches to identify patients with FH, conduct cascade screening of their relatives, and increase awareness and control of FH.","PeriodicalId":505403,"journal":{"name":"Cardiology and Angiology: An International Journal","volume":"431 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139860726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hypercholesterolemia Familial: Early Cardiovascular Complications, Treatment Challenges, and the Fatal Consequences of Delayed Diagnosis: an in-Depth Case Study 家族性高胆固醇血症:早期心血管并发症、治疗难题和延迟诊断的致命后果:深入病例研究
Pub Date : 2024-02-06 DOI: 10.9734/ca/2024/v13i1394
Mina Boutgourine, Hafssa Rouam, M. E. Jamili, M. Hattaoui
Familial Hypercholesterolemia (FH) is among the most common genetic disorders, present from birth. The transmission is mainly autosomal dominant. It is characterized by a exclusive increase in low-density lipoproteins (LDL). It is associated with a high risk of premature cardiovascular complications. The diagnosis of FH is generally based on the clinical presentation or genetic tests. The commonly used criteria are those of the Dutch Lipid Clinic Network. FH is a hereditary condition still largely underdiagnosed and undertreated. The prognosis of the disease is related to atheromatous cardiovascular complications, which, in the absence of treatment, lead to the patient's death in the first three decades, often due to myocardial infarction or sudden death. The management of familial hypercholesterolemia systematically involves two categories of measures: so-called hygienic-dietary measures associated with the treatment of other risk factors when they exist, and drug treatments. Familial hypercholesterolemia is still poorly detected. It is necessary to develop systematic approaches to identify patients with FH, conduct cascade screening of their relatives, and increase awareness and control of FH.
家族性高胆固醇血症(FH)是最常见的遗传疾病之一,从出生时就存在。其遗传方式主要为常染色体显性遗传。其特征是低密度脂蛋白(LDL)的独家增加。它与过早出现心血管并发症的高风险有关。FH 的诊断一般基于临床表现或基因检测。常用的标准是荷兰血脂诊所网络的标准。高血脂症是一种遗传性疾病,在很大程度上仍未得到充分诊断和治疗。该病的预后与动脉粥样硬化性心血管并发症有关,在缺乏治疗的情况下,这些并发症会导致患者在头三十年内死亡,通常是由于心肌梗死或猝死。家族性高胆固醇血症的治疗主要包括两类措施:一类是所谓的卫生饮食措施,如果存在其他危险因素,则与治疗这些因素相关;另一类是药物治疗。家族性高胆固醇血症的发现率仍然很低。有必要制定系统的方法来识别家族性高胆固醇血症患者,对其亲属进行逐级筛查,并提高对家族性高胆固醇血症的认识和控制。
{"title":"Hypercholesterolemia Familial: Early Cardiovascular Complications, Treatment Challenges, and the Fatal Consequences of Delayed Diagnosis: an in-Depth Case Study","authors":"Mina Boutgourine, Hafssa Rouam, M. E. Jamili, M. Hattaoui","doi":"10.9734/ca/2024/v13i1394","DOIUrl":"https://doi.org/10.9734/ca/2024/v13i1394","url":null,"abstract":"Familial Hypercholesterolemia (FH) is among the most common genetic disorders, present from birth. The transmission is mainly autosomal dominant. It is characterized by a exclusive increase in low-density lipoproteins (LDL). It is associated with a high risk of premature cardiovascular complications. The diagnosis of FH is generally based on the clinical presentation or genetic tests. The commonly used criteria are those of the Dutch Lipid Clinic Network. FH is a hereditary condition still largely underdiagnosed and undertreated. The prognosis of the disease is related to atheromatous cardiovascular complications, which, in the absence of treatment, lead to the patient's death in the first three decades, often due to myocardial infarction or sudden death. The management of familial hypercholesterolemia systematically involves two categories of measures: so-called hygienic-dietary measures associated with the treatment of other risk factors when they exist, and drug treatments. Familial hypercholesterolemia is still poorly detected. It is necessary to develop systematic approaches to identify patients with FH, conduct cascade screening of their relatives, and increase awareness and control of FH.","PeriodicalId":505403,"journal":{"name":"Cardiology and Angiology: An International Journal","volume":"29 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139800621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Cardiology and Angiology: An International Journal
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1