Congenital scoliosis with truncus arteriosus type 1 in a preterm neonate: A case report

Abstract

BACKGROUND

Congenital scoliosis (CS) is a spinal deformity caused by defective segmentation and development of vertebrae during early embryogenesis. It occurs in 0.5%-1% in 1000 births and may rarely occur with congenital defects affecting the heart or genitourinary system. Truncus arteriosus (TA) is a life-threatening cardiac defect in which a single arterial trunk supplies both systemic and pulmonary circulation, leading to complications such as pulmonary hypertension, heart failure, and severe hypoxia. Although rare individually, the co-occurrence of both conditions poses unique diagnostic and therapeutic challenges, with limited documentation in medical literature.

CASE SUMMARY

We present a 36-week preterm neonate with CS associated with TA type 1, presenting with respiratory distress, cyanosis, and altered spinal curvature. This case demonstrates the complexity of managing neonates with multiple congenital defects. Here, the patient was managed with oxygen supplementation, heart failure medication, nasogastric feeding, and multidisciplinary care to optimize her for surgical corrections. A coordinated, interdisciplinary approach was employed to optimize outcomes, particularly in a resource-limited setting. Immediate respiratory and cardiovascular stabilization and long-term orthopedic and cardiac interventions were central to improving the patient’s quality of life and survival.

CONCLUSION

Recognizing co-existing congenital anomalies and their embryological interrelation is critical in holistic patient care, particularly during neonatal and infancy.

Key Words: Congenital scoliosis; Truncus arteriosus; Preterm neonate, Corrective surgery; Congenital heart disease; Case report

Core Tip: This case highlights the unusual co-occurrence of congenital scoliosis and truncus arteriosus type 1 in a preterm neonate. It emphasizes the necessity for prompt diagnosis and a coordinated, multidisciplinary approach to management, aiming to enhance survival and quality of life in patients with complex congenital anomalies.

INTRODUCTION

Congenital defects affecting the cardiovascular and musculoskeletal systems are significant causes of global morbidity and mortality[1]. Congenital scoliosis (CS) occurs in approximately 0.5%–1% of 1000 live births[2] and may present as an isolated anomaly or within syndromes such as Ehlers-Danlos, Marfan, or osteogenesis imperfecta. Isolated CS is often linked to cardiac and genitourinary anomalies due to shared embryological pathways[3].

Truncus arteriosus (TA), a rare cardiac anomaly, results from failed truncal septation during embryogenesis, leading to a single arterial trunk supplying the pulmonary, coronary, and systemic circulations[4]. Complications such as pulmonary hypertension and heart failure are life-threatening. Despite the rarity of each condition, their simultaneous presentation complicates diagnostic work-up and demands a comprehensive therapeutic approach. This report highlights the case of a preterm neonate presenting with this unusual combination and explores its clinical, diagnostic, and therapeutic implications.

CASE PRESENTATION

Chief complaints

A 2-day-old female neonate was brought to the hospital with respiratory distress, cyanosis, and an apparent altered curvature of the spine.

History of present illness

The neonate was born at 36 weeks of gestation via spontaneous vaginal delivery, with a birth weight of 2500 grams. Apgar scores were 8, 9, and 9 at one minute, five minutes, and ten minutes, respectively. Shortly after birth, she exhibited signs of respiratory distress, including tachypnea and grunting, accompanied by central cyanosis. An abnormal spinal curvature was also noted.

History of past illness

The mother, gravida 5, para 2, abortus 2, had attended a single antenatal care visit at a peripheral facility without a detailed obstetric ultrasound. She reported no chronic illnesses, medication use, or exposure to teratogens during pregnancy. Also, she denied any fevers during the pregnancy.

Personal and family history

The mother had two healthy children and two early pregnancy losses at 12 weeks. The etiology of the losses was not investigated due to socioeconomic constraints. No family history of congenital anomalies was reported.

Physical examination

On examination, the neonate was lethargic with labored breathing, nasal flaring, and intercostal retractions. Vital signs included a heart rate of 199 beats per minute, respiratory rate of 68 breaths per minute, temperature of 38.2 °C, and oxygen saturation of 78% on room air. Cardiovascular examination revealed a harsh holosystolic murmur. Musculoskeletal assessment confirmed a lateral curvature of the thoracic spine without limb abnormalities. Neurological examination showed normal muscle tone and an intact Moro reflex.

Laboratory examinations

Included in Table 1.

Table 1 Laboratory findings.

Parameter	Findings
Blood group	A+
White blood cell count	10000 × 109/L
Haemoglobin	14.9 g/dL
Platelets	253000
C-reactive protein	Non-reactive
Blood cultures	Negative

Imaging examinations

Chest radiographs demonstrated thoracic scoliosis with vertebral segmentation anomalies and a mildly enlarged cardiac silhouette (Figure 1). Echocardiography identified TA type 1, a multi-fenestrated atrial septal defect, and mild truncal valve regurgitation with preserved ventricular function (Figure 2). Cranial and kidney, ureter, and bladder ultrasounds were unremarkable.

Figure 1 The photograph of the neonate demonstrates a noticeable lateral curvature of the spine.

Figure 2 The neonate's X-ray image. A: The spine's altered curvature in anterior-posterior view; B: The spine's altered curvature in lateral view.

MULTIDISCIPLINARY EXPERT CONSULTATION

A multidisciplinary team was convened with neonatology, cardiology, cardiothoracic surgery, orthopedics, and genetics. The consensus was to stabilize the neonate's respiratory and cardiac status, initiate medical management for heart failure, and plan for surgical interventions once the patient was optimized. Genetic evaluation was considered but deferred due to resource limitations.

FINAL DIAGNOSIS

The neonate was diagnosed with CS and TA type 1.

TREATMENT

Management involved a multidisciplinary approach. Oxygen therapy via nasal prongs at 1 L/minute (inspiratory fraction of oxygen 100%) was initiated for respiratory support. Continuous positive airway pressure was considered but deferred due to the patient’s moderate distress. Intravenous antibiotics (penicillin and gentamicin) were administered while ruling out neonatal sepsis. Heart failure medications (furosemide and spironolactone) were initiated to manage pulmonary over-circulation, not for primary cardiac dysfunction. Nutritional support was provided through nasogastric feeding due to the initial poor suck reflex and risk of aspiration. Orthopedic and cardiothoracic consultations were made to guide surgical correction. Informed family counseling was prioritized, addressing the child’s complex needs, prognosis, and limitations in resource-constrained care. Genetic analysis and 22q11.2 deletion testing were planned but not performed due to limited resources.

OUTCOME AND FOLLOW-UP

The neonate showed clinical improvement with stable oxygen saturation and reduced respiratory distress following multidisciplinary care. Diuretic therapy managed pulmonary over-circulation, while nutritional status improved through nasogastric and oral feeds. Cardiac function remained preserved, and echocardiography confirmed mild truncal valve regurgitation without ventricular dysfunction. After family counselling, the patient was discharged in stable condition with referrals to tertiary centres for cardiothoracic surgery and orthopedic follow-up. Due to limited resources, genetic testing, including 22q11.2 deletion analysis, was deferred. Long-term monitoring for scoliosis progression, respiratory complications, and surgical timing was recommended. At one-month follow-up, the neonate was feeding well, gaining weight, and stable with no new symptoms. Ongoing multidisciplinary care was advised to optimize outcomes, particularly in a resource-constrained setting. The family was educated on signs of cardiac decompensation and the importance of adherence to follow-up visits. Surgical correction remained critical for long-term prognosis and quality of life.

DISCUSSION

CS results from underlying spinal malformations and is the most common congenital vertebral anomaly[2]. It occurs in approximately 1% in 1000 live births, with a male-to-female ratio of 1:1.4[5]. TA is an equally uncommon congenital cardiac anomaly with an incidence of 6–10 per 100000 live births[6]. No documented case reports explicitly describe patients presenting with both TA and CS. However, several case reports detail complex presentations of TA with other anomalies as summarized in Table 2[7-10]. The diverse outcomes—from survival after surgery to early neonatal mortality—underscore the heterogeneity of presentations and the need for tailored, multidisciplinary approaches to management[7-10].

Table 2 Summary of reported cases of truncus arteriosus with scoliosis or related syndromes.

Ref.	Patient demographics	Associated anomalies	Truncus arteriosus type	Management	Outcome
Alizadeh et al[7], 2022	Newborn, unspecified	Hypoplastic left heart syndrome, other cardiovascular defects	Type II	Multidisciplinary management, palliative care	Not specified
Takeuchi et al[8], 2018	Infant, unspecified	Interrupted aortic arch, bronchial compression	Unspecified	Pulmonary artery stenting, surgery	Post-op bronchial issues
Abdelaal et al[9], 2022	Neonate, unspecified	Coarctation of the aorta, truncal valve regurg	Common arterial trunk	Surgery	Survived post-surgery
Chen et al[10], 2016	Infants to adults	Truncal valve anomalies, other cardiac issues	Mixed (I, II, III)	Surgical repair across age spectrum	Variable, mostly positive
Present study, 2025	Preterm neonate, female	None confirmed, limited resources for genetic testing	Type I	Supportive care	Awaiting surgical correction

Failure of truncal septation during embryogenesis results in a single arterial trunk supplying the coronary, systemic, and pulmonary circulations[4]. The intersection of these conditions reflects the vulnerability of early organogenesis to disruptions in genetic and environmental signaling pathways.

Fetal injury during intrauterine spinal development underpins many congenital anomalies[11]. Insults during the fifth to eighth weeks of gestation are linked to anomalies such as spinal cord dysraphism, congenital heart disease, and genitourinary defects. CS primarily arises from segmentation or formation failures, while TA is attributed to neural crest cell maldevelopment within the cardiac outflow tract[4,12]. The temporal overlap of spine and heart development suggests a shared embryological etiology.

CS is frequently associated with syndromes like vertebral, ano-rectal, cardiac, tracheo-esophageal, renal, and limb, CHARGE, and Klippel-Feil, highlighting genetic contributions[13]. Environmental factors, including maternal diabetes, hypoxia, hyperthermia, sodium valproate, and alcohol, also play a role[14]. TA’s etiology remains uncertain, but implicated factors include 22q11.2 microdeletions, maternal diabetes, and teratogens such as retinoic acid[15].

A thorough family and obstetric history is essential. Antenatal imaging is critical for identifying vertebral defects and evaluating maternal health and substance exposure[11]. While CS can be detected on physical exam, TA requires echocardiography. Advanced imaging, such as three dimensions computed tomography/magnetic resonance imaging, clarifies scoliosis, while plain X-rays measure the Cobb angle[2]. Prenatal TA diagnosis is feasible from 13 weeks via fetal echocardiography[6]. However, access remains limited in low-resource settings.

CS management aims to prevent curve progression while ensuring balance. Severe curves often require surgery, while milder deformities may be managed conservatively[2]. TA management begins with initial stabilization using heart failure medications, diuretics, and oxygen support. Definitive surgical correction is usually performed within six months[16]. The prognosis for neonates with combined congenital anomalies depends on timely cardiac management and early identification of associated defects. Successful TA repair improves outcomes, though scoliosis-related complications like restrictive lung disease require ongoing orthopedic monitoring[17].

Diagnostic delays and a lack of specialist care worsen outcomes in resource-limited settings. Enhancing antenatal services, capacity building, and integrating telemedicine could improve the management of complex neonatal conditions.

CONCLUSION

This case underscores the importance of early diagnosis, multidisciplinary management, and tailored follow-up for neonates with rare congenital anomalies. It highlights the urgent need for better prenatal screening protocols and expanded neonatal care resources in underserved regions. Further research is needed to understand the genetic and embryological underpinnings of such coexisting conditions and to optimize management strategies.

ACKNOWLEDGEMENTS

The authors thank Dr. Nick Mutisya and the Murang’a County Referral Hospital for supporting the preparation of this case report.