Clinic of Cardiology, University Clinical Centre of Kosova, Rrethi i Spitalit, pn., 10000, Prishtina, Republic of Kosovo.
Clinic of Rheumatology, University Clinical Centre of Kosova, Prishtina, Republic of Kosovo.
J Med Case Rep. 2023 Oct 26;17(1):446. doi: 10.1186/s13256-023-04167-7.
Ventricular septal defect (VSD) is one of the most common congenital cardiac anomalies. Patients with perimembranous VSD may have aortic regurgitation (AR) secondary to prolapse of the aortic cusp.
We present a case of 23-year-old White man with VSD, AR and ascending aortic aneurysm. The patient presented to outpatient clinic with weakness and gradual worsening shortness of breath for the past 5 years. Clinical examination revealed regular heart rhythm and loud continuous systolic-diastolic murmur (Lewin's grade 6/6), heard all over the precordium, associated with a palpable thrill. The ECG showed right axis deviation, fractionated QRS in V1 and signs of biventricular hypertrophy. The chest X-ray showed cardiomegaly. Transthoracic and transesophageal echocardiograms showed a perimembranous VSD with moderate restrictive shunt (Qp/Qs = 1.6), aortic regurgitation (AR), and ascending aortic aneurysm. Other clinical and laboratory findings were within normal limits.
Perimembranous VSD, may be associated with aortic regurgitation and ascending aortic aneurysm as secondary phenomenon if it is not early diagnosed and successfully treated.
室间隔缺损（VSD）是最常见的先天性心脏畸形之一。膜周部 VSD 患者可能因主动脉瓣脱垂而导致主动脉瓣反流（AR）。
我们报告了一例 23 岁白人男性，患有 VSD、AR 和升主动脉瘤。患者因过去 5 年来逐渐加重的乏力和呼吸困难在门诊就诊。临床检查显示节律规则，于心前区可闻及响亮的连续性收缩期-舒张期杂音（Lewin's grade 6/6），伴可触及的震颤。心电图显示右轴偏，V1 导联 QRS 波呈碎裂状，有双心室肥厚的迹象。胸部 X 线片显示心脏增大。经胸超声心动图和经食管超声心动图显示膜周部 VSD 伴中度限制型分流（Qp/Qs=1.6）、AR 和升主动脉瘤。其他临床和实验室检查结果均在正常范围内。
如果不能早期诊断和成功治疗，膜周部 VSD 可能会继发 AR 和升主动脉瘤。
