Year : 2013  |  Volume : 16  |  Issue : 2  |  Page : 157--158

Anesthetic implications in Holt-Oram Syndrome

Ajmer Singh1, Vikrant S Pathania1, Samir Girotra1, Krishna S Iyer2,  
1 Department of Cardiac Anaesthesia, Escorts Heart Institute and Research Centre Ltd, Okhla Road, New Delhi, India
2 Department of Pediatric Cardiac Surgery, Escorts Heart Institute and Research Centre Ltd, Okhla Road, New Delhi, India

Correspondence Address:
Ajmer Singh
Department of Cardiac Anaesthesia, Escorts Heart Institute and Research Centre Ltd, Okhla Road, New Delhi - 110 025

How to cite this article:
Singh A, Pathania VS, Girotra S, Iyer KS. Anesthetic implications in Holt-Oram Syndrome.Ann Card Anaesth 2013;16:157-158

How to cite this URL:
Singh A, Pathania VS, Girotra S, Iyer KS. Anesthetic implications in Holt-Oram Syndrome. Ann Card Anaesth [serial online] 2013 [cited 2021 Dec 4 ];16:157-158
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Full Text

The Editor,

Holt-Oram syndrome (HOS) is an autosomal dominant genetic condition characterized by congenital heart defects and upper limb abnormalities. The anesthetic implications in such patients include difficulty in catheterizing vessels, difficulty in tracheal intubation, lung ventilation, and problems with blood pressure (BP) monitoring. [1] There is a potential susceptibility to arrhythmias, hemodynamic instability, and even cardiac arrest in the perioperative period.

A 14-month-old female child (weight 5.4 kg) was evaluated for failure to thrive, excessive sweating, and feeding difficulty. She was the third child of the family, born with absent right thumb and imperforate vaginal opening. At birth, a murmur was detected and an echocardiogram done after 1 month revealed a secundum atrial septal defect (ASD). There was no history of any skeletal deformity or congenital heart defect in the family. On examination, the right radial artery was not palpable and the right thumb was absent [Figure 1]. The right arm was short and the left arm was normal [Figure 1]. X-ray of right arm showed absent radius [Figure 2]. Chest X-ray showed cardiomegaly and electrocardiogram (ECG) showed incomplete right bundle branch block. Transthoracic echocardiography revealed situs solitus, levocardia, atrioventricular and ventriculoarterial concordance, normal systemic and pulmonary venous drainage, a large ostium secundum ASD measuring 18 mm × 19 mm (shunting left to right), and mild tricuspid regurgitation (PG = 22 mm Hg). The hematological and biochemical parameters were normal. An informed consent for the surgical procedure was obtained from the parents. In the operating room, monitoring commenced with pulse oximeter, ECG, and non-invasive BP in the left arm. Difficult intubation kit was kept ready. Inhalational anesthetic induction was achieved with 5-8% sevoflurane, in oxygen and nitrous oxide (50:50). On laryngoscopy, vocal cords were visualized easily; thereafter, fentanyl 5 mcg/kg and pancuronium 0.1 mg/kg were given to facilitate endotracheal intubation. Left radial artery could not be cannulated despite multiple attempts. Femoral artery and internal jugular venous cannulations were done using real-time ultrasound technique (SonoSite, Inc. Bothell, WA, USA). Standard cardiopulmonary bypass (CPB) was instituted with aortic, and superior and inferior vena cava cannulation and ASD was repaired under mild hypothermia (32°C) and cardioplegic cardiac arrest. Cardiac activity returned spontaneously with 2:1 atrio-ventricular (AV) block after release of aortic clamp, which required atrial pacing transiently. Weaning from CPB was smooth and no residual shunt was detected on epicardial echocardiography. Postoperative course was uneventful. Parents were advised to consult orthopaedic surgeon for possible correction of limb abnormalities.{Figure 1}{Figure 2}

Holt and Oram first described this syndrome in 1960 in nine members of a family spanning four generations. [2] The prevalence of this disorder is estimated to be one per 100,000 births with 85% cases occurring due to mutations. The manifestations of HOS are dysplasia of upper limb which may range from minor radiographic abnormalities to phocomelia and cardiac abnormalities. The skeletal deformities involve triphalangeal thumbs, carpal bone dysmorphism, shortness of ulna, shortness of the humerus, aplasia of the radius (as in this case) and phocomelia. [3] In a clinical and genetic study ( n = 55), all cases of HOS had upper limb involvement, the left side was more severely affected, the females had more severe defects, and cardiac defects were seen in 95% of familial cases. [4] Cardiac defects included ASD (34%), ventricular septal defect (25%), ECG changes (35%), and asymptomatic conduction disturbance with variable degree of AV block. Even patients with minimal upper limb defects should receive a thorough cardiac examination and possibly an echocardiogram, because the severity of the limb defects does not correlate with the severity of the cardiac defect. An ASD is sometimes associated with abnormalities of venous return such as anomalous pulmonary venous drainage, inferior vena caval interruption, and persistent left superior vena cava. Correct preoperative diagnosis of systemic and pulmonary venous anomalies is essential for appropriate cannulation and management during CPB. [5] The peripheral venous access and arterial cannulation may be difficult in patients with significant limb abnormalities. Upper limb defects may make fixation of an appropriate size BP cuff difficult, and inaccurate pressures may be displayed by non-invasive monitors. Two of the Holt and Oram's original family had hypoplastic peripheral vessels which prevented cardiac catheterization. [2] The use of ultrasound-guided cannulation may improve success rate in such patients. [6] In our case, we did not find any cardiac or skeletal abnormality in any of the parents which suggests a spontaneous genetic mutation in the baby. To summarize, in patients of HOS, the potential for difficult arterial and venous cannulation, difficult intubation, and problem with non-invasive BP monitoring must be kept in mind.


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