What is the management of DiGeorge syndrome (22q11.2 deletion syndrome) in hypotensive shock, considering associated cardiac defects?

From the Guidelines

Management of DiGeorge syndrome in hypotensive shock requires immediate attention to the underlying cardiac defects and immune dysfunction, with a focus on stabilizing hemodynamics and addressing associated cardiac anomalies, as outlined in the most recent guidelines 1. The initial management should focus on stabilizing hemodynamics with fluid resuscitation using crystalloids at 20 ml/kg boluses, followed by vasopressors if needed, such as epinephrine 0.05-0.3 mcg/kg/min or norepinephrine 0.05-0.5 mcg/kg/min, as recommended for cardiogenic shock 1. Key considerations in the management of DiGeorge syndrome in shock include:

• Calcium supplementation with calcium gluconate 10% at 0.5-1 ml/kg IV slowly, as hypocalcemia is common in DiGeorge syndrome
• Identification and management of associated cardiac defects, including tetralogy of Fallot, interrupted aortic arch (particularly type B), truncus arteriosus, and ventricular septal defects, which can precipitate shock and require specific management 1
• Oxygen supplementation and intubation for respiratory distress
• Consultation with pediatric cardiology for potential surgical intervention
• Immunoglobulin replacement (IVIG 400-600 mg/kg) if immunodeficiency contributes to septic shock
• Thymic transplantation may be considered for severe immunodeficiency cases
• Continuous cardiac monitoring, frequent electrolyte checks (especially calcium, magnesium, and potassium), and close observation for signs of infection are necessary throughout treatment. It is essential to prioritize the management of associated cardiac defects and immune dysfunction to improve outcomes in patients with DiGeorge syndrome in hypotensive shock, as recommended in the most recent clinical practice guidelines 1.

From the Research

Management of DiGeorge Syndrome in Hypotensive Shock

The management of DiGeorge syndrome (22q11.2 deletion syndrome) in hypotensive shock, considering associated cardiac defects, involves a multidisciplinary approach.

• Correction of hypocalcemia with calcium gluconate administration is crucial, as hypocalcemia can cause arrhythmic events and contribute to hypotensive shock 2, 3.
• Surgical correction of cardiac defects, such as truncus arteriosus, is often necessary to manage hypotensive shock and prevent further complications 2, 4.
• Patients with DiGeorge syndrome may also require management of associated conditions, such as immunodeficiency and developmental disorders 5, 6.
• A multidisciplinary team, including cardiologists, surgeons, and other specialists, is essential for the diagnosis and management of DiGeorge syndrome in hypotensive shock 4.

Associated Cardiac Defects

DiGeorge syndrome is often associated with conotruncal cardiac defects, including:

• Truncus arteriosus 2, 4
• Tetralogy of Fallot 6
• Vascular ring 4
• These defects can contribute to hypotensive shock and require surgical correction.

Importance of Early Diagnosis

Early diagnosis of DiGeorge syndrome is crucial for effective management and prevention of complications 5, 6.

• Screening for DiGeorge syndrome should be considered in patients with conotruncal cardiac abnormalities, particularly those born before widespread neonatal testing became common 6.
• Genetic testing can confirm the diagnosis of DiGeorge syndrome and guide management and genetic counseling 3, 6.