Amaewhule Obuoma Umejuru, Otaigbe Barbara Edewele, Tabansi Petronila Nnenna, Uwadiale Rosemary Atsosime, Emeruwa Victoria Ezinne, Daniel Faithful Miebaka
Department of Paediatrics, Rivers State University Teaching Hospital, Port Harcourt, Rivers State, Nigeria.
Department of Paediatrics, University of Port Harcourt Teaching Hospital, Port Harcourt, Rivers State, Nigeria.
Medicine (Baltimore). 2025 Jan 31;104(5):e41324. doi: 10.1097/MD.0000000000041324.
Truncus arteriosus is a cyanotic congenital heart disease in which the great vessels of the heart fail to separate in utero. Consequently, a single truncal vessel arises from the heart to supply the systemic, coronary, and pulmonary circulations. This lesion causes the total mixing of oxygenated and deoxygenated blood, with an early onset of pulmonary vascular disease. Patients rarely survive beyond the first year of life. This case report highlights a rare survival without intervention up to the ninth year of life.
We present the case of a 9-year-old male child with a history of dark discoloration of the lips and digits, easy fatigability, and fast breathing since birth. The patient is currently small for his age, with a bulging anterior chest wall, displaced apex beat, and cardiac murmur. Oxygen saturation was 57% in room air. A chest radiograph showed peri-hilar lymphadenopathy with prominent pulmonary trunks. Pack cell volume was 62%, and the gene expert test was negative.
A diagnosis of cyanotic congenital heart disease, truncus arteriosus type III with pulmonary hypertension, was made after diagnostic evaluation with echocardiography.
To manage congestive heart failure, the patient was put on diuretics, including furosemide and spironolactone. Parents could not carry out a definitive surgical repair due to financial constraints.
Although the patient was able to survive the past year, the child had developed cardiomegaly, signs of pulmonary congestion, decreased oxygenation, and a compensatory increase in red blood cell volume.
Truncus arteriosus is a critical congenital heart defect that has a high potential for morbidity and mortality within the first year of life. It requires immediate intervention and surgical repair in the immediate neonatal period. In rare cases, patients have been able to survive beyond the first year, especially if they also developed pulmonary stenosis. However, this patient had been a survivor for 9 years without another structural anomaly. Given the unique presentation and its rarity, further research is needed into compensatory mechanisms and possible low-cost and accessible alternatives in resource-constrained settings. It also demonstrates that pharmacologic therapy alone is insufficient to prevent mortality.
永存动脉干是一种青紫型先天性心脏病，心脏的大血管在子宫内未能分离。因此，一根单一的动脉干从心脏发出，为体循环、冠状动脉循环和肺循环供血。这种病变导致氧合血和脱氧血完全混合，早期就会出现肺血管疾病。患者很少能活过一岁。本病例报告强调了一例罕见的未经干预活到九岁的病例。
我们报告一例9岁男性患儿，自出生以来有嘴唇和手指发暗、易疲劳及呼吸急促的病史。该患者目前身材低于同龄人，前胸壁隆起，心尖搏动移位，有心脏杂音。室内空气中的氧饱和度为57%。胸部X线片显示肺门周围淋巴结肿大，肺动脉主干突出。红细胞压积为62%，基因专家检测为阴性。
经超声心动图诊断评估后，诊断为青紫型先天性心脏病，III型永存动脉干伴肺动脉高压。
为控制充血性心力衰竭，给患者使用了利尿剂，包括呋塞米和螺内酯。由于经济限制，家长无法进行确定性的手术修复。
尽管患者在过去一年中存活了下来，但已出现心脏扩大、肺充血迹象、氧合降低以及红细胞体积代偿性增加。
永存动脉干是一种严重的先天性心脏缺陷，在出生后第一年内发病和死亡风险很高。它需要在新生儿期立即进行干预和手术修复。在极少数情况下，患者能够活过一岁，特别是如果他们还并发了肺动脉狭窄。然而，该患者存活了9年，没有其他结构异常。鉴于其独特的表现及其罕见性，需要进一步研究其代偿机制以及在资源有限环境中可能的低成本且可及的替代方案。这也表明仅靠药物治疗不足以预防死亡。
