Cardiac evaluation of patients with 22q11.2 duplication syndrome

Cardiac symptoms in patients with 22q11.2 duplication syndrome.

chromosome 22

Patients with isolated duplications of 22q11.2 segment show a very wide spectrum of manifestations from severely affected to practically asymptomatic persons. Some patients with duplications of 22q11.2 may have congenital heart defects (CHD). However, the spectrum and severity of CHD in dup 22q11.2 have not been studied in a large cohorts of patients. The authors analyzed cardiologic manifestations in 85 patients with dup 22q11.2 examined at their center. Only the patients with sufficient cardiologic examinations were included in the studied cohort. Most patients had a “standard” duplication (LCR22A-LCR22D). Various CHD were found in 17 out of 85 patients (20%). There was no predominant type of heart defects: hypoplastic left heart syndrome and ventricular septal defects were diagnosed in 3 patients each, tetralogy of Fallot, truncus arteriosus and atrial septal defects in 2 patients each. Five patients had abnormalities of the aortic arch and branching pattern, but all these patients had also other forms of CHD. As shown studying murine models CHD in patients with dup 22q11.2 may be caused by abnormal dosage of the TBX1 gene, because transgenic mice overexpressing TBX1 have significant similarities with dup 22q11.2 patients.

Butensky A. et al. “Cardiac evaluation of patients with 22q11.2 duplication syndrome”. “Amer. J. Med. Genetics” 2021, v. 185 (3), 753-758.

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