Interrupted aortic arch – case report

Q4 Medicine Revista Romana de Pediatrie Pub Date : 2022-06-30 DOI:10.37897/rjp.2022.2.5
Heidrun Adumitrăchioaiei, A. Luca
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Abstract

Interrupted aortic arch is a rare ductal-dependent congenital heart malformation, accounting for 1.5% of all MCC, 2 in 100,000 cases of live newborns are diagnosed with IAA. We present the case of a 3-month-old infant who came to our clinic on the recommendation of the family doctor. On clinical examination, he presented an affected general state, peri oronasal cyanosis during moments of agitation, grade III/6 systolic murmur present throughout the precordial area, heart rate = 160 beats/min, respiratory rate = 45 breaths/min, SaO2 = 86 – 91% in atmospheric air, liver 4 cm below the costal rim. Echocardiography revealed a complete ductal-dependent congenital heart malformation, interrupted aortic arch, persistence of ductus arteriosus, wide muscular ventricular septal defect, hypoplasia of the ascending aorta. The angioCT examination confirmed the diagnoses from the echocardiography. During the genetic examination, the suspicion of DiGeorge syndrome was raised, which is why MLPA for microdeletions was required. The first therapeutic act performed was represented by maintaining the patency of the arterial channel. The patient was transferred to a clinic in Italy for the surgical intervention.
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主动脉弓中断1例报告
主动脉弓中断是一种罕见的导管依赖性先天性心脏畸形,占所有MCC的1.5%,每10万例活产儿中就有2例被诊断为IAA。我们提出的情况下,3个月大的婴儿谁来到我们的诊所在家庭医生的建议。临床检查表现为全身受累,躁动时口鼻周围发绀,心前区出现III/6级收缩期杂音,心率160次/分,呼吸频率45次/分,大气中SaO2 = 86 - 91%,肝脏位于肋缘以下4cm。超声心动图显示完全性导管依赖性先天性心脏畸形,主动脉弓中断,动脉导管持续存在,宽肌性室间隔缺损,升主动脉发育不全。血管oct检查证实了超声心动图的诊断。在基因检查过程中,提出了diggeorge综合征的怀疑,这就是为什么需要对微缺失进行MLPA的原因。第一个治疗行为表现为维持动脉通道通畅。患者被转移到意大利的一家诊所进行手术干预。
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CiteScore
0.10
自引率
0.00%
发文量
15
审稿时长
4 weeks
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