Turner syndrome (TS) is a genetic condition resulting from complete or partial loss of one sex chromosome in females, with an incidence of 1 in 2,500 live-born female infants. It is associated with various multisystem anomalies, among which congenital heart anomalies are most common, particularly coarctation of aorta (CoA), bicuspid aortic valve (BAV), and aortic stenosis (AS) (1).

Studies have shown that in patients with Turner syndrome, CoA is found in one-third of patients while in 25% of cases, BAV is prevalent (2). Turner syndrome presents with multiple sets of clinical features including primary hypogonadism, skeletal anomalies, congenital heart disease, gastrointestinal and hepatic dysfunctions, visual and auditory problems, lymphatic and cutaneous complications, renal malformations, and mental deficits (3). Despite being well-documented, the occurrence of CoA, PDA, and pulmonary hypertension in neonates altogether results in serious hemodynamic instability, presenting a unique range of diagnostic and therapeutic challenges. Turner syndrome can be suspected on routine ultrasound; however, diagnosis can be confirmed by prenatal karyotyping through amniocentesis and chorionic villi sampling (4).

Initial laboratory investigations revealed a hemoglobin level of 18.3 g/dL, total leukocyte count of 9.9 × 10⁹/L, platelet count of 265 × 10⁹/L, and C-reactive protein of 1 mg/L. Serum sodium was 143 mmol/L, potassium 5.2 mmol/L, calcium 1.82 mmol/L, urea 6.0 mmol/L, creatinine 87 µmol/L, albumin 36 g/L, ALT 10 U/L, and serum total bilirubin 110 µmol/L. Magnesium was 0.8 mmol/L, phosphate 2.66 mmol/L, lactate 4.7 mmol/L, and TSH 2.78 mIU/L. The Coombs test was negative. These findings supported stable general metabolic status, with no evidence of significant infection or metabolic derangement.

Congenital heart diseases occur in 25%–50% of individuals with Turner syndrome. Among these, BAV is nearly 60 times more common than in the general female population (4), while CoA affects approximately 7%–18% of affected individuals (5).

In this case, a preterm neonate presented with features suggestive of Turner syndrome and was found to have BAV, CoA, and a moderate PDA. The initial clinical suspicion of pulmonary arterial hypertension (PAH) was based on echocardiographic findings of a bidirectional PDA and clinical signs such as a loud P2. However, in neonates with critical left-sided obstruction, such as CoA, a bidirectional or right-to-left shunt across a PDA may result from low systemic postductal pressure rather than elevated pulmonary arterial pressure (5). In our resource-limited setting, invasive hemodynamic assessment was not possible, and echocardiographic estimates (e.g., tricuspid regurgitation gradient and pulmonary acceleration time) were not reliably obtainable due to technical limitations. Therefore, PAH in this case is best interpreted as suspected rather than confirmed.

One of the key management decisions in this case was the use of transcatheter balloon angioplasty as a bridge to definitive surgical repair (6). Although surgery is typically preferred for CoA in neonates, balloon angioplasty has been employed in selected cases where immediate surgical intervention is not feasible or when clinical instability requires urgent decompression of the aortic gradient. In our context, where pediatric cardiac surgery was unavailable and timely referral was challenging, this approach provided temporary stabilization and allowed successful weaning from mechanical ventilation.

This case highlights the importance of early diagnosis and a multidisciplinary approach, especially in low-resource settings. Despite the complexity of the case and limitations in diagnostic precision, clinical stabilization was achieved through prompt supportive care and staged intervention. Long-term follow-up will be essential to monitor for complications such as restenosis, aneurysm formation, and hormonal issues related to TS, including the initiation of estrogen replacement therapy (ERT) and growth monitoring (2, 7).

This case also highlights the successful use of balloon angioplasty as a bridge to definitive surgical correction. However, a key limitation was the lack of invasive hemodynamic assessment to confirm pulmonary arterial hypertension, relying instead on echocardiographic estimates, which may be confounded by severe aortic obstruction and PDA shunting.

This case underscores the importance of integrated care, proactive management, and comprehensive follow-up in TS patients with multiple congenital heart diseases, essential in improving survival and quality of life.