Case Report

Williams syndrome is a congenital multi-systemic disorder, estimated to affect 1 in 7500 people [1]. A deletion of about 17 adjoining genes at 7q11.23, including the gene for elastin, seen in 96% of patients with classic Williams syndrome, is believed to be responsible for the physical and cognitive manifestations of Williams syndrome [2]. FISH analysis is used to detect the deletion and verify the diagnosis. Patients with Williams syndrome exhibit cognitive and behavioral deficiencies, including delayed development, increased facial recognition and social skills, and an overly friendly and social personality. Patients with Williams syndrome have distinct facial features including short, flat upturned noses, wide mouths, and small chins in childhood [3]. Cardiovascular defects are also common, with 82% of Williams syndrome patients exhibiting a cardiovascular abnormality [4]. The elastin gene deletion is responsible for arterial stenosis in Williams syndrome patients, with 45% exhibiting supravalvar aortic stenosis and 37% exhibiting peripheral pulmonary arterial stenosis. Mitral valve defects are also prevalent, with 15% exhibiting mitral valve prolapse and 15% experiencing mitral valve regurgitation. The cardiovascular defects associated with Williams syndrome account for a majority of deaths in patients [3].

A 16-year-old female presented to our institution with a 2-week history of intermittent dizziness. She had a history of Williams syndrome, diagnosed in infancy, as well as mitral valve regurgitation. Until presentation, she had no physical limitations or limitations related to cardiovascular pathology. Her family history was negative for congenital heart disease, arrhythmia, hypertrophic cardiomyopathy, or sudden death. Physical examination revealed characteristic facial features of Williams syndrome including flat nasal bridge, anteverted nostrils, long philtrum, and thick lips. Cardiac auscultation demonstrated a midsystolic click at the apex and a 1–2/6 systolic murmur best heard in the left axilla. An EKG was performed showing a transient accelerated junctional rhythm. Holter monitoring revealed occasional premature ventricular contractions (PVCs) with rare couplets and triplets as well as one short run of nonsustained ventricular tachycardia (Fig. 1).

Fig. 1
figure 1

Rhythm strip from Holter monitor showing five beats of nonsustained ventricular tachycardia

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Echocardiography revealed an abnormal and irregular left ventricular septum with multiple mobile, pedunculated muscular projections extending into the left ventricular cavity. There was no supravalvar aortic stenosis or branch pulmonary artery stenosis (Fig. 2). Mild mitral valve prolapse with mild regurgitation was also noted. Systolic function was normal with a left ventricular ejection fraction of 68.9%.

Fig. 2
figure 2

a Grayscale transthoracic echocardiogram in a parasternal long-axis view demonstrates thick bands of myocardium protruding from the interventricular septum into the left ventricle. b Similar findings demonstrated on 3D transthoracic echocardiogram. LV left ventricle, AO aorta

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Cardiac MR confirmed echocardiographic findings and demonstrated abnormally thickened trabeculations consisting of multiple parallel ridges within the left ventricle (Fig. 3a, b). Multiple linear bands of myocardium were seen traversing the left ventricle.

Fig. 3
figure 3

a bSSFP cardiac MR images in an LV outflow tract view demonstrates thick bands of myocardium crossing the LV cavity. b The 4-chamber horizontal long-axis view shows where the bands originate. bSSFP balanced steady-state free precession

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Since her initial presentation, the patient was started on beta-blockade therapy and received follow-up by an electrophysiologist. Her symptoms improved and she has not had any significant cardiac events.

Discussion

The finding of abnormal muscular trabeculations in the left ventricle in a patient with Williams syndrome has not previously been described in the literature. The typical differential diagnosis for presyncope in a Williams syndrome patient includes supravalvar aortic stenosis, pulmonary artery stenosis, valvular defects, coarctation of the aorta, and hypertrophic cardiomyopathy [5]. These conditions can occasionally result in arrhythmia and sudden cardiac death.

Here, we describe a unique case of septal thickening, thickened muscular trabeculations, and linear bands of myocardium traversing the ventricle. The appearance of this abnormal architecture closely mimics coral on the ocean floor and may be easily remembered as the “coral sign.” These abnormal trabeculations are thought to be associated with ventricular ectopy leading to the patient’s presyncope symptoms.

This is the first case of this finding in the literature, and is potentially helpful in recognizing and treating Williams syndrome patients. Further investigation into unusual cardiac abnormalities beyond supravalvar aortic stenosis and biventricular outflow tract obstruction in Williams Syndrome patients should be pursued.