Joseph E. Hall, MD, Derrick R. Sowder, MA, CCC-SLP, Jennifer C. Muckala, MA, CCC-SLP, Britni S. Jacobs, MD, Christopher T. Wootten, MD, Steven L. Goudy, MD

Department of Otolaryngology-Head & Neck Surgery, Vanderbilt University Medical Center

Nashville, Tennessee

Introduction

VPI is common in VCFS and most

patients require surgical intervention.

VCFS patients presenting with a

more severe phenotype as exhibited

by increasing severity of heart

disease, hearing loss, and

hypernasality are more likely to

require revision operative

intervention for VPI.

VELOPHARYNGEAL INSUFFICIENCY REPAIR OUTCOMES IN PATIENTS

WITH VELOCARDIOFACIAL SYNDROME

Materials and Methods

Results and Discussion

Conclusions

References

Abstract

Objectives: To analyze outcomes of operations

for velopharyngeal insufficiency (VPI) in

patients with velocardiofacial syndrome

(VCFS). We hypothesize that patients with

more severe phenotypic features of VCFS have

greater VPI and are more likely to require

revision VPI surgery.

Subjects and Methods: Retrospective chart

review. Demographic data, VCFS

characteristics, anatomical variations, perceptual

speech investigation, nasal endoscopy, acoustic

nasometry, and operative intervention data were

collected for each patient with VCFS

undergoing VPI repair at Vanderbilt University

Medical Center. Ten patients with VCFS were

reviewed.

Results: Sixteen patients were identified.

Average age was 8.1 years with 5 female

patients. Surgery was necessary in 10 of 16

patients (62.5%). Seven patients (70%)

underwent pharyngeal flap, 2 patients (20%)

Furlow palatoplasty, and 2 patients (20%)

sphincter pharyngoplasty. Six patients had heart

anomalies (60%). Eight patients (80%) had

recurrent otitis media and bilateral mild to

moderate hearing loss and 3 patients had

significant hypocalcemia (30%). Two patients

had submucous clefts (20%) while 1 patient had

cleft palate (10%). Two patients (20%) required

revision operations. Both patients requiring

revision had Tetralogy of Fallot, mild/moderate

conductive hearing loss, and severe

hypernasality preoperatively.

Conclusions: VPI is common in VCFS and

most patients require surgical intervention.

VCFS patients presenting with a more severe

phenotype as exhibited by increasing severity of

heart disease, hearing loss, and hypernasality are

more likely to require revision surgery to correct

VPI.

Velocardiofacial syndrome (VCFS) is the

most common syndrome associated with

velopharyngeal insufficiency (VPI) and cleft

palate.1,2 VCFS is associated with a myriad of

clinical findings including cleft secondary

palate, facial abnormalities, cardiac problems,

renal anomalies, small stature, developmental

delay, hearing loss, and hypocalcemia.3 Most

clefts in patients with VCFS are submucous.

VPI is a common manifestation in patients

with VCFS as greater than 70% of patients

with VCFS and submucous clefts have VPI.4

Multiple surgical options exist for VPI

associated with VCFS including pharyngeal

flap or sphincter pharyngoplasty operations.

While several papers in the literature

have described outcomes following surgical

repair of VPI in patients with VCFS,2,5,6,7 to

date no study has investigated phenotypic

variants of VCFS which may be indicative of

increasingly severe VPI. We hypothesized that

patients with more severe phenotypic features

of VCFS have greater VPI and are more likely

to require revision VPI operations.

Vanderbilt University Medical Center

Institutional Review Board approval was

obtained. Sixteen consecutive patients were

identified. Ten of these patients required

operative intervention (10/16, 62.5%). No

patient had a prior history of operative

intervention for VPI. Demographic data,

VCFS characteristics, anatomical variations,

perceptual speech investigation, nasal

endoscopy, acoustic nasometry, and operative

intervention data were collected for each

patient with VCFS undergoing VPI repair at

Vanderbilt University Medical Center.

Analysis was performed.

Average age was 8.1 years with 5 female

patients. Surgery was necessary in 10 of 16 patients

(62.5%) for symptomatic VPI. Mean follow up was

25.6 months. Seven patients (70%) underwent

pharyngeal flap, 2 patients (20%) Furlow

palatoplasty, and 2 patients (20%) sphincter

pharyngoplasty. One patient underwent Furlow

palatoplasty and sphincter pharyngoplasty at the

same operation. Six patients had heart anomalies

(60%). Eight patients (80%) had recurrent otitis

media and hearing loss and 3 patients had significant

hypocalcemia (30%). Two patients had submucous

clefts (20%) while 1 patient had cleft palate (10%).

Two patients (20%) required revision operations.

One patient had a pharygeal flap and required

revision of the pharyngeal flap at 29 months post-

operatively for continued hypernasality due to

incomplete closure at both lateral ports. The other

patient required sphincter pharyngoplasty followed

by revision sphincter pharyngoplasty 34 months

post-operatively for continued hypernasality due to

lack of complete closure at the port level. Both

patients requiring revision had Tetralogy of Fallot,

mild/moderate conductive hearing loss, and severe

hypernasality preoperatively. No surgical

complications were noted. Previous studies have

characterized the surgical outcomes for VCFS

patients following VPI operations.2,5 As in previous

studies, our rate of pharyngeal flap operative

intervention was significantly higher than sphincter

palatoplasty.2

1. R.J. Shprintzen, R.B. Goldberg, M.L. Lewin, E.J. Sidoti, M.D.

Berkman, R.V. Argamaso,

et al., A new syndrome involving cleft palate, cardiac anomalies, typical

facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate

J. 1978: 56–62.

2. Ysunza A, Pamplona MC, Molina F, Hernández A. Surgical planning

for restoring velopharyngeal function in velocardiofacial syndrome. Int J

Pediatr Otorhinolaryngol. 2009;73(11):1572-5

3. Oh AK, Workman LA, Wong GB. Clinical correlation of chromosome

22q11.2 fluorescent in situ hybridization analysis and velocardiofacial

syndrome. Cleft Palate Craniofac J. 2007; 44(1): 62-6.

4. A. Ysunza, M. Pamplona, Velopharyngeal dysfunction diagnosis and

management. J. Maxillofac. Oral Surg. 2008 ; 78 : 168–173.

5. Sie KC, Tampakopoulou DA, de Serres LM, Gruss JS, Eblen LE,

Yonick T. Sphincter pharyngoplasty: speech outcome and complications.

Laryngoscope. 1998; 108 (8 Pt 1): 1211-7.

6. Havkin N, Tatum SA, Shprintzen RJ. Velopharyngeal insufficiency and

articulation impairment in velo-cardio-facial syndrome: the influence of

adenoids on phonemic development. Int J Pediatr Otorhinolaryngol.

2000; 54 (2-3): 103-10.

7. Widdershoven JC, Stubenitsky BM, Breugem CC, MinkvanderMolen

AB. Outcome of velopharyngoplasty in patients with velocardiofacial

syndrome. Arch Otolaryngol Head Neck Surg. 2008; 134(11): 1159-64.

Table 1. Patient Demographics and Operative Interventions

Required Surgical Intervention 10/16 (62.5%) Average Age 8.1 Years Pharyngeal Flap 7/10 (70%)

Furlow Palatoplasty 2/10 (20%)

Sphincter Palatoplasty 2/10 (20%)

Heart Anomalies 6/10 (60%)

Recurrent Otitis Media/Hearing Loss 8/10 (80%) Hypocalcemia 3/10 (30%) Submucous Clefts 2/10 (20%) Cleft Palate 1/10 (10%)

Table 2. Characteristics

of Patients Requiring

Revision Operation

Tetralogy of Fallot 2/2 (100%)

Conductive Hearing Loss

(Bilateral, Moderate)

2/2 (100%)

Severe Hypernasality 2/2 (100%)

Additionally, our rate of revision was

similar to previous studies.7 We

noted that patients requiring revision

operations typically presented with

increasing severity of heart disease,

hearing loss, and hypernasality.