Table 6.

Recommended Surveillance for Individuals with Myhre Syndrome

System/ConcernEvaluationFrequency
Growth Measurement of growth parametersAt each visit
Cardiovascular 1 In asymptomatic persons w/normal echocardiogram at initial diagnosis, repeat echocardiogramEvery 1-3 yrs
In persons w/abnormal findings at initial diagnosis, more extensive imaging may be indicated given progressive nature of disorder.As clinically indicated
Blood pressure measurementAt each visit
Respiratory Pulmonary function studies in children age >6 yrs, if able to cooperate w/test maneuversAnnually
  • Monitor for evidence of respiratory insufficiency & obtain pulse oxygen measurement.
  • Evaluate for signs/symptoms of upper airway stenosis.
At each visit
Gastrointestinal Monitor for constipation or signs/symptoms of GI narrowing.
Developmental Monitor developmental progress & educational needs.
Psychiatric/
Behavioral 		Behavioral assessment for anxiety, ASD, & aggressive or self-injurious behavior
Musculoskeletal Physical medicine, OT/PT, mobility assessment, self-help skills
Immunologic Assessment of signs/symptoms of frequent or unusual infections
Family/
Community 		Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.
Eyes Ophthalmologist evalAnnually or as clinically indicated
Hearing Audiologist eval
Integument Assessment for abnormal scarring
Endocrinologic
  • Low threshold for fasting blood sugar & hemoglobin A1c to assess for diabetes mellitus
  • Periodic DXA scan to assess bone mineral density
Starting in 2nd decade
Monitor for premature puberty. 2At each visit in childhood
Postpubertal women: monitor for heavy menses 2Starting in 2nd decade
Lifestyle Encourage nonstrenuous exercise, healthy eating, & weight mgmt. 3At each visit

ASD = autism spectrum disorder; GI = gastrointestinal

1.

Note that pericardial effusion and restrictive cardiomyopathy may occur at any age and may be clinically asymptomatic [Starr et al 2015, Garavelli et al 2016, Lin et al 2016].

2.

These findings are more common in those with the c.1486C>T (p.Arg496Cys) pathogenic variant.

3.

Vaccines are endorsed.

From: Myhre Syndrome

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