Mortality in Patients with 22q11.2 Rearrangements

Area of Science:

• Genetics
• Genomic Medicine
• Pediatric Cardiology

Background:

• The 22q11.2 chromosomal region is prone to rearrangements, leading to syndromes like 22q11.2 microdeletion syndrome.
• Understanding mortality patterns and risk factors is crucial for managing patients with 22q11.2 rearrangements.

Purpose of the Study:

• To analyze mortality causes, age at death, and associated risk factors in a large cohort of patients with 22q11.2 rearrangements.
• To provide updated data on mortality for 22q11.2 rearrangement syndromes.

Main Methods:

• Molecular techniques including FISH, MLPA, and CMA were used for diagnosis in 223 patients.
• Data collection included causes of death, age at death, and patient demographics.
• A retrospective analysis of a cohort with over 30 years of follow-up.

Main Results:

• 21 out of 223 patients (9.4%) died, with a median age of death of 3 months and 18 days.
• Cardiac causes accounted for the majority of deaths (71.42%), followed by sepsis (9.52%).
• Most deceased patients were diagnosed within the first week of life, with a significant proportion of White Mediterranean and Amerindian ethnicities.

Conclusions:

• Cardiac complications are the primary driver of mortality in individuals with 22q11.2 rearrangements.
• Early diagnosis and intervention are critical, as most deaths occur in infancy.
• This study highlights the significant impact of 22q11.2 rearrangements on patient survival.