CORRESPONDENCE: LETTERS TO THE EDITOR
Genetic Testing in Clinics for Congenital Heart Disease in Adults
Leisa J. Freeman, MB, ChB, ILTM, FRCP*,
Antonia Hardiman, BSc, SRN and
Sheila Wood
* Address for Correspondence:, Department of Cardiology, Norfolk and Norwich University NHS Hospital, Colney Lane, Norwich, NR4 7UZ, United Kingdom (Email: leisa.freeman{at}nnuh.nhs.uk).
We read with interest the report by Beauchesne et al. (1) regarding 22q11.2 microdeletion in adults with selected conotruncal abnormalities. We have pursued a policy of screening for 22q11.2 microdeletion in such patients who are seen in a dedicated clinic for congenital heart disease in adults. This, however, is not a tertiary center, but a large district United Kingdom general hospital. As such, the numbers are smaller and have been performed as the patients come through clinic. To date, 8 of 16 patients with pulmonary atresia ventricular septal defect have been tested and 3 patients have 22q11.2 microdeletion (37.5%). One of these is of Chinese ethnic origin but probably has dysmorphic features. He had a sister who died with truncus arteriosus. The second patient has clear dysmorphic features with mental retardation. The third does not have dysmorphic features but is mentally retarded. Thirty-two of 55 patients with tetralogy of Fallot have been screened. None have 22q11.2 microdeletion, but one with very dysmorphic features has deletion of the long arm of C11 and is thought to have Jacobsen syndrome, which has been associated with endocardial cushion defects and coarctation of the aorta (2); we have not found this or 22q11.2 microdeletion in 4 of 33 patients with endocardial cushion defects or 20 of 88 coarctation patients tested so far. We agree with the investigators that screening of such high-risk patients is mandatory—especially given the implications for 50% transmission. As the genetic basis for congenital heart disease becomes clearer, more assiduous attention is likely to be needed, especially for those involved in maternal medicine.
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1. Beauchesne LM, Warnes CA, Connolly HM, Ammash NM, Grogan M, Michels VV. Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal abnormalities J Am Coll Cardiol 2005;45:595-598.[Abstract/Free Full Text]
2. Pivnick EK, Velagaleti GVN, Wilroy RS, et al. Jacobson syndromereport of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11(q23q25) and review of 52 cases. J Med Genet 1996;33:772-778.[Abstract/Free Full Text]
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