Anesthetic management of an infant with Holt–Oram syndrome

Dear Editor,

Holt–Oram syndrome (HOS), commonly known as “heart-hand syndrome,” is a rare autosomal dominant disease. The incidence of HOS is around 1 in 100,000.[1,2] A one-year-old male child, weighing 7.5 kg, tracheostomized previously for prolonged intubation, was scheduled for surgical debridement of the right side of the cheek due to mucormycosis infection. Informed consent was taken from the parents. He was a known case of HOS, right renal agenesis with acute on chronic kidney disease, and was in sepsis. During the ICU stay child had six episodes of cardiac arrest. All preoperative blood investigation, ECG, Chest X-ray and echocardiography were within normal limit except deranged kidney function test. The vitals were stable. Family history was insignificant. The child had bilateral upper limb deformity with hypoplastic four fingers and an absent thumb [Figure 1]. After applying all American Society of Anesthesiologists recommended monitoring, the patient was induced with fentanyl 2mcg/kg and propofol 2mg/kg from a peripheral intravenous line, which was in situ. Anesthesia was maintained with fentanyl, atracurium, and sevoflurane. For invasive blood pressure monitoring, right posterior tibial arterial line was secured under ultrasound guidance. In view of his susceptibility to arrhythmias and cardiac arrest, emergency cardiac medications and a cardiac defibrillator were kept ready. The total surgical duration was 90 min. The intraoperative course was uneventful. At the end of the procedure, the child was shifted to the ICU.

Figure 1.

Upper limb deformity of the child

HOS is characterized by a triad of congenital heart anomalies, conduction defects, and skeletal malformation. Clinical manifestation of this disease ranges from subclinical radiologic findings to overt, life-threatening diseases. Almost all patients have upper limb abnormalities[3] and 80–85% have heart anomalies. These patients have also reported having restrictive lung disease, end-stage renal failure, stroke, cardiomyopathy, and cardiac dysfunction. Ostium secundum type of Atrial septal defect (ASD) (34%) is the most common structural cardiac defect in HOS, followed by a ventricular septal defect (25%) and other anomalies like PDA, hypoplastic left heart, endocardial cushion defects, truncus arteriosus, and almost all types of arrhythmias.[1] This necessitates proper cardiac assessment to carefully plan and prepare for safe anesthesia.[4] History of six episodes of cardiac arrest in this patient, possibly because of undetected arrhythmias, makes anesthesia riskier. The goal was to maintain hemodynamic stability and normal cardiac rhythm throughout. Care was taken to maintain renal perfusion, and nephrotoxic drugs were avoided. Invasive blood pressure monitoring was important for early detection during induction and surgery. The role of ultrasound remains invaluable in securing difficult venous/arterial access in these patients.

The importance of this case report lies in the rarity of the disease, difficult vascular access, perioperative arrhythmias, hemodynamic instability, and risk of cardiac arrest in the perioperative period, in children with HOS and warrants careful preoperative assessment of the cardiovascular and skeletal systems and due preparation beforehand for any untoward complications.

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