Diagnosis: Barth Syndrome ICD# E78.71

Barth syndrome is an unpredictable health condition and during an intercurrent illness rapid decompensation is not uncommon.  The patient who is diagnosed with Barth syndrome should be triaged as soon as possible upon arrival in the emergency department, even if he does not appear to be ill. Decompensation and death may occur rapidly. Early and aggressive intervention may reduce complications and stop further deterioration or death.

Barth syndrome is a rare genetic, life-threatening disorder caused by a mutation in the tafazzin gene (also called G4.5), resulting in an inborn error of phospholipid metabolism.

Cardinal Characteristics of Barth Syndrome

• Cardiomyopathy
• Neutropenia
• Low Muscle Mass and Muscle Weakness
• Exercise Intolerance
• Growth Delay

Additional Clinical Problems of Barth Syndrome

• Heart failure
• Sepsis
• Arrhythmia
• Thrombosis
• Hypoglycemia

Common Presentation and Acute Complications

Cardiac Dysfunction

• Cardiomyopathy and heart failure
• Life-threatening arrhythmias, even when heart function is normal (PVCs and PACs may not be benign)
• Cardiac decompensation can be triggered by intercurrent illness and stress. In the setting of clinical changes, a recent normal echocardiogram should not be considered reassuring.
• If patient has received a heart transplant, seek advice from transplant team.

Infection/ Neutropenia and Sepsis

• Neutropenia with an ANC approaching zero is common. Consequently, a normal ANC is not necessarily reassuring and may be a sign of a life-threatening infection (relative neutrophilia).
• Normal body temperature often runs below 98.6F/37C. Therefore, mild fever may signify infection. Infection should be considered if temperature is > 100.4F/38C
• Rectal temperatures are contraindicated due to high risk of neutropenia.

Nutritional and Metabolic Issues

• Limited tolerance for fasting with potential for rapid metabolic decompensation
• Increased risk of hypoglycemia
• Increased risk of electrolyte imbalances, particularly when experiencing diarrhea and/or vomiting

Recommended Tests for Urgent Evaluation

• D-stick/blood glucose
• Complete Blood Count with differential
• Comprehensive Metabolic Panel
• Venous Blood Gas
• C-reactive protein (CRP)
• B-type natriuretic peptide (BNP)/ N-terminal pro b-type natriuretic peptide (NT-proBNP)
• Electrocardiogram (EKG)
• Echocardiogram
• Chest X-ray

Management (Even if the patient does not appear unwell)

• Place onto continuous telemetry and frequent vital signs
• Obtain labs/place stat peripheral IV if oral feeding is not tolerated/inadequate or there are signs of dehydration,
  • IV fluid boluses should be done with care, and in the context of any existing cardiac dysfunction
• Treat hypoglycemia
  • Patients are prone to hypoglycemia particularly after a long fast and episodic vomiting and diarrhea. Correct hypoglycemia with age and weight appropriate protocol in administering IV bolus of glucose solution and glucose drip
• Consider admission.
  • Please contact primary care physician for further care management instructions or before discharging the patient from the ED.
• Consider sepsis evaluation

Admission

Most patients who present in the ED of hospital will require admission. Use caution when discharging the patient to go home. Please consult with these providers who are most familiar with the patient’s condition as needed.

Additional Resources

Physician to Physician Consultation: The Barth Syndrome Foundation maintains a list of multidisciplinary sub-specialists with expertise in the disease who have agreed to speak DIRECTLY with peer physicians during times of crisis. To obtain a referral to one of these physicians contact the Barth Syndrome Foundation by email or by phone press extension 1.

Printable Form and Instructions for Use

This Emergency Department (ED) Management template should be shared with the physicians of the individual who has Barth syndrome for their input and approval. Physicians may amend this document to address additional risks the physician deems appropriate.

 Completing This Form

• Enter the name of the individual diagnosed with Barth syndrome and date of birth
• Provide this template to the individual’s physicians for review and edits when the individual is well, so you’ll have it ready if needed when going to the Emergency Department.
• Ask the physicians to review and amend any specific management instructions they feel important to change, including when to contact the physician

Tips 

• Keep a copy of this completed document readily available at all times.
• Provide a copy of this document to the Emergency Department upon arrival
• Provide a copy of this document to first responders upon arrival
• Keep a copy of this document in your vehicle
• Provide a copy of this document to the school nurse
• For expanded information ALWAYS have a supply of healthcare brochures available to provide to EMS first responders, physicians and the Emergency Department (see printable section below)

Corresponding Forms and Documents