INTRODUCTION

In 1977, Costello¹ described 2 patients with a new multiple congenital anomalies/mental retardation syndrome. Recently, additional reports of Costello syndrome have been published, bringing the number of patients described to near 30.^2-18 Features of the syndrome include postnatal growth deficiency, mental retardation, cutis laxa, characteristic facies, papillomas, and various cardiac abnormalities.¹⁸ The syndrome is thought to be a result of sporadic autosomal dominant mutations, although the gene involved is unknown.¹⁹

Articles discussing Costello syndrome have consisted of single case reports or small series confined primarily to the genetics literature. This fact, coupled with the uncommon nature of the syndrome, has made it difficult to ascertain frequency, type, and natural history of the associated cardiac defects. It appears, however, that cardiac findings are clinically important and may be common. Moreover, the spectrum of heart disease is somewhat unique in that it includes not only congenital structural defects but also rhythm disorders and acquired obstructive cardiomyopathy.

We present an infant with Costello syndrome whose cardiac diagnoses typify what has been variously described in this syndrome. We then review the literature to estimate the frequency and nature of heart disease in this group of children. Finally, we discuss how the spectrum of findings in Costello syndrome compare with other syndromes known to encompass heart disease.

	CASE HISTORY

The male infant was the 4.2-kg product of a 35-week gestation. Fetal echocardiography (ECHO) had demonstrated a possible ventricular septal defect (VSD). After delivery, a small restrictive perimembranous VSD was confirmed. Frequent premature atrial contractions were seen on electrocardiogram (ECG). The postnatal course was complicated by hypotonia and poor feeding.

At 2 months of age, he developed multifocal atrial ectopic tachycardia, with 1:1 conduction at a rate of 260 beats per minute. Normal sinus rhythm was restored with digoxin.

At 11 months of age, a new harsh ejection murmur was heard and ECG . . . [Full Text of this Article]