超出通常的频谱:在一个患有严重大动脉病理的马方综合征患者的心房隔膜缺陷
Prabhat Kumar Agrawal1, Siddhant Dev1, Sandipta Kumar Panda1
1Department of Medicine, Sarojini Naidu Medical College, Agra, Uttar Pradesh, India.
Journal of family medicine and primary care
|October 15, 2025
概括
本案例报告强调了一种罕见的马凡综合征,与心房隔膜缺陷 (ASD) 和严重的大动脉疾病同时发生. 早期诊断和干预对于管理这种复杂的心血管表型至关重要.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 内部医学 内部医学
背景情况:
- 马方综合征是一种罕见的遗传性疾病,影响结合组织,主要是心血管,骨和眼睛系统.
- 马尔凡综合征中常见的心血管问题包括大动脉根扩张,大动脉吐和 mitra 透.
- 先天性心脏缺陷,如心房隔膜缺陷 (ASD),在马凡综合征患者中很少观察到.
研究的目的:
- 报告一个罕见的马方综合征病例,与心房隔膜缺陷和严重的大动脉病理的不常见共存.
- 强调马方综合征患者综合性心血管评估的重要性.
主要方法:
- 一个22岁的男性被诊断出患有马方综合征的病例报告.
- 临床检查显示了特征性的马尔法诺形状和心血管异常.
- 2D回声心电图用于评估心脏结构和功能,确认大动脉病理和ASD.
主要成果:
- 患者呈现了典型的马芬综合征特征和显著的大动脉根扩张 (67毫米),中度大动脉吐和左心室低动.
- 鉴定出一个小心脏隔膜缺陷与左向右的分流 (Qp/Qs比为1.8).
- 这种情况表明,在马尔凡综合征中,ASD和严重的大动脉疾病的罕见结合.
结论:
- 马方综合征中ASD和严重的大动脉病理的同时存在是罕见的,但临床上具有意义.
- 进行彻底的心血管评估对于管理复杂的马凡综合征表型至关重要.
- 早期识别和干预对于预防危及生命的并发症和改善患者的治疗结果至关重要.
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