Anesthetic management of a patient with Holt-Oram syndrome undergoing right radial head excision.

Holt-Oram syndrome also known as heart and hand syndrome, first reported in 1960. It is a rare, inherited, an autosomal dominant disorder with mutation in TBX5. As the name suggests, the feature involves skeletal abnormality mainly involving upper limb, that is, upper-extremity malformations involving radial, thenar, or carpal bones; congenital heart diseases like, atrial-septal defect and ventricular septal defect and conduction problems. This syndrome may also involve other part of skeletal structure. We hereby report a case of a patient who was suffering from this syndrome scheduled for right radial head excision.

INTRODUCTION

In 1960, Mary Holt and Samuel Oram described this syndrome for the first time.[1] The systems mainly affected in this are cardiac and skeletal. Hence, different terminologies like “heart-hand syndrome”, “heart upper limb syndrome,” and “upper limb cardiovascular syndrome” are commonly used.

Holt-Oram syndrome is an autosomal dominant disorder, caused by mutation on chromosome 12q2[2] that inactivated the TBX5 gene that alters the three-dimensional structure of the protein and its DNA binding function. The criteria for diagnosing this syndrome include abnormalities of the thumb (triphalangia, hypoplasia, or aplasia) and congenital heart disease. The most frequent cardiac abnormalities are atrial-septal defects (ASDs)[3] associated with conduction problems. The cardinal features of this syndrome are ASD, patent ductus arteriosus, cardiac arrhythmias and conduction block of various types, and hypoplasia of the left thumb.[4] The other skeletal anomalies are also reported. There is paucity of literature published on anesthetic management of such syndrome.

CASE REPORT

A 30-year-old woman presented with the chief complaints of pain and swelling in the right elbow joint. There was no history of fall, fever, or weight loss. Patient was diagnosed as having pathological fracture of right radius. Patient gave history of breathlessness and was of New York Heart Association grade II. On general physical examination, patient weight was 55 kg, 160 cm in height, Polydactyl of all four limbs [Figure 1], clinodactyly and loss of thenar prominence [Figure 2] are noted. The airway assessment showed Mallampatti grade I, thyromental distance of 6 cm, and mouth opening of three fingers. Systemic examination showed fixed spilt second heart sound with grade two systolic murmur, regular good volume pulse. There was no organomegally, no raised jugular venous pressure, and no signs of congestive cardiac failure noted.

Figure 1

Polydactyly of all four limbs

Figure 2

Loss of hypothenar eminance and clinodactyly

Preoperative hemogram, random blood sugar, electrolytes, renal function tests, and chest radiograph were normal. Electrocardiogram revealed right bundle branch block. The echocardiography showed large ostium primum ASD with left to right shunt, with cleft in anterior mitral leaflet, mild mitral regurgitation, moderate tricuspid regurgitation, moderate pulmonary artery hypertension, dilated right atrium, and ventricle with mild left ventricular dysfunction.

The patient received premedication of Tab. Diazepam 5 mg and Tab. Ranitidine 150 mg per oral night before surgery and on the day of surgery in the morning. Tab. amoxicillin 2 g orally 1 h prior to surgery was given to prevent infective endocarditis. Patient was kept nil per oral for 6 h before surgery and received intravenous (I.V.) fluids of 1 mL/kg/h.

On arrival to operating room blood pressure was 118/70 mm hg, heart rate 76/min, respiratory rate 14/min and oxygen saturation 96%. Electrocardiography monitoring was established, together with monitoring of noninvasive arterial pressure and pulse oximeter.

There are no data in the literature to suggest preferred anesthetic technique. Since the procedure was at the elbow region, the peripheral nerve block, that is, supraclavicular brachial plexus block was selected as it is much superior compared with general anesthesia in this case. Patient received Inj. Midazolam 2 mg and Inj. Fentanyl 55 mcg intravenously for procedural sedation. We identified the supraclavicular brachial plexus by peripheral nerve stimulator technique. A combination of inj. Lignocaine (2%) 5 mg/kg body weight and Inj. Bupivacaine (0.5%) 2 mg/kg body weight was injected after negative aspiration for blood. We did avoid combination of Ing Lignocaine with Adrenaline in view of possible new onset of arrhythmias. Successful block was achieved and procedure was uneventful. Patient received the inj. Diclofenac 75 mg I.V. infusion postoperatively after 4 h as the visual analogue score was 5. Patient was shifted to high dependency unit for monitoring 24 h and followed-up to note any complications related to nerve block.

DISCUSSION

Holt-Oram syndrome is a rare genetic disorder which is associated with congenital heart disease, skeletal abnormalities. In our case, we observed polydactyly of all the four limbs, clinodactyly, loss of thenar eminence, and ASD. Scoring system is developed to assess severity of this syndrome which is recommended by Gladstone and Sybert,[5] as follows:

For skeletal abnormalities

0 - No abnormality on physical or radiological examination

1 - Minor abnormalities, including reduced thenar eminence, clinodactyly, or hypoplasia of the thumb

2 - Present arms and forearms, with one or more bones missing

3 - Phocomelia.

For cardiac abnormalities

0 - Asymptomatic, with no abnormal physical findings

1 - Conduction defect

2 - Structural heart abnormality that does not require surgery

3 - Structural heart abnormality that requires surgery but is not life-threatening

4 - Potentially lethal malformation.

In our patient, diagnosis of Holt-Oram syndrome was based on ASD by two-dimensional echocardiographic finding, right bundle branch conduction block, polydactyly, clinodactyly, and loss of hypothenar eminence.

The other problems associated with this syndrome are difficulty in cannulating vessels, air embolism, tracheal intubation, arrhythmias, hemodynamic instability, cardiac arrest, restrictive lung disease, renal failure, stroke, cardiomyopathy, and cardiac dysfunction.[56]

CONCLUSION

In summary, we managed this rare congenital condition safely with peripheral nerve block. We opted peripheral nerve block as choice of anesthesia to avoid hemodynamic changes associated with excessive sympathetic stimulation[7] accompanied by potential deleterious effects on cardiac rhythm which is more commonly seen with general anesthesia. Our patient received endocarditis prophylaxis as per our hospital protocol. There are no complications noted during our management. The key message is one should keep in mind that this syndrome has potential difficulties due to congenital cardiac problems like ASD, conduction blocks, and skeletal problems. We feel choice of regional anesthesia is superior technique when compared with general anesthesia due to lesser chances of sympathetic stimulation.