Table 8. [Recommended Surveillance for Males with Barth Syndrome]. - GeneReviews®

System/Concern	Evaluation	Frequency
Cardiac ¹	Electrocardiography w/Holder monitoring	At least annually
Echocardiography	At least annually or more frequently depending on clinical status
Electrophysiologic study to assess for a potentially serious arrhythmia	As needed & for eval of symptoms incl palpitations & syncope, abnormal arrhythmia screening tests, or family history of sudden death
Immune	Complete blood count w/differential	With all febrile episodes & semi-annually (or more frequently based on history & symptoms)
Neuromuscular	Clinical assessment of strength & for scoliosis	At each visit
Constitutional	Measurement of height & weight ²
Neurocognitive	Monitor developmental progress & educational needs.
Formal developmental assessments	Every 3-5 yrs during childhood
Miscellaneous/ Other	Assess family need for social work support (e.g., respite care, home nursing, other local resources) & care coordination.	At each visit

System/Concern

Evaluation

Frequency

Cardiac ¹

Electrocardiography w/Holder monitoring

At least annually

Echocardiography

At least annually or more frequently depending on clinical status

Electrophysiologic study to assess for a potentially serious arrhythmia

As needed & for eval of symptoms incl palpitations & syncope, abnormal arrhythmia screening tests, or family history of sudden death

Immune

Complete blood count w/differential

With all febrile episodes & semi-annually (or more frequently based on history & symptoms)

Neuromuscular

Clinical assessment of strength & for scoliosis

At each visit

Constitutional

Measurement of height & weight ²

Neurocognitive

Monitor developmental progress & educational needs.

Formal developmental assessments

Every 3-5 yrs during childhood

Miscellaneous/
Other

Assess family need for social work support (e.g., respite care, home nursing, other local resources) & care coordination.

At each visit

From: Barth Syndrome

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