两名中国兄弟患有甲型膜形症的严重心脏膜化:一个病例报告
Yi Guo1, Xinyi Zhang1, Yanfei Meng1
1Department of SICU (Surgical intensive care unit), Fuwai Yunnan Hospital, Chinese Academy of Medical Sciences, Affiliated Cardiovascular Hospital of Kunming Medical University, Kunming, Yunnan, China.
Frontiers in cardiovascular medicine
|December 8, 2025
概括
一种罕见的遗传性疾病 - - A型囊形形症 (MADA) 可以出现严重的早期心脏膜化. 这项研究确定了一种新的LMNA基因突变,与这两个兄弟的严重心脏表现有关.
科学领域:
- 遗传学 是一个遗传学.
- 心脏病学 心脏病学
- 罕见疾病 罕见疾病
背景情况:
- 口腺失生症A型 (MADA) 是一种罕见的前列腺综合征,由LMNA基因突变引起.
- 虽然已知心脏问题,但严重的早期膜化并不是典型的MADA特征.
研究的目的:
- 在MADA患者中报告一种特定的LMNA突变与严重的早期发作的心脏膜化之间的新兴关联.
- 扩大已知的MADA和LMNA基因变异的临床谱.
主要方法:
- 临床病例报告两位来自同血亲家庭的兄弟患有MADA.
- 基因调查以确定LMNA基因中的致病突变.
- 详细的心脏评估,包括在一个患者中进行过导管大动脉植入 (TAVI).
主要成果:
- 两兄弟都呈现出经典的MADA表型和严重的,早期发作的心脏膜化.
- 在两个受影响的个体中,在LMNA基因中发现了一个同卵性误解突变 (c.785A>G,p.Glu262Gly).
- 哥哥因为严重的大动脉狭窄而经历了成功的TAVI.
结论:
- 同卵性LMNAc.785A>G (p.Glu262Gly) 突变与MADA中严重的早期心脏膜化有关.
- 这一发现突显了MADA.中潜在的未被认可的心血管表现.
- 对于MADA患者,特别是来自血缘关系家庭的患者,全面的心脏评估至关重要.
更多相关视频
相关概念视频
Mitral Valve Prolapse I: Introduction
1.1K
IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...
1.1K
Mitral Valve Prolapse II: Assessment and Management
1.4K
IntroductionA range of clinical features characterizes Mitral Valve Prolapse (MVP), but it is important to note that many individuals with MVP are asymptomatic and may remain so throughout their lives. For those who do exhibit symptoms, the following are the key clinical features:Palpitations: This is a common symptom where individuals feel an irregular or rapid heartbeat. Palpitations in MVP are often due to arrhythmias such as premature ventricular contractions or supraventricular...
1.4K
Mitral Stenosis I: Introduction
1.8K
Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...
1.8K
Mitral Stenosis II: Clinical features and Diagnostic Tests
549
Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
549
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
1.3K
The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
1.3K
Cardiomyopathy III: Hypertrophic Cardiomyopathy
793
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
793


