Microdeletion 22q11 in complex cardiovascular malformations (original) (raw)

Abstract

Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now included in the CATCH-22 microdeletion complex. CATCH 22 is an acronym for cardiac defect, abnormal facies, thymic hypoplasia or aplasia and T-cell deficiency, cleft palate, hypoparathyroidism, and hypocalcemia. In the present study, we focused on the complex cardiovascular defects (CCVD) and screened 40 patients for a microdeletion of 22q11 by fluorescence in situ hybridization using the D22S75 DNA probe and for associated CATCH features. The patients were from genetic counseling (n = 15) or fetopathology (n = 3) of the Clinical Genetics Department in Marburg and from the Pediatric Cardiology Department (n = 22) in Mainz. Monosomy 22q11 was detected in 9 cases (= 22.5%). Familial transmission with one mildly affected parent and one affected sib each was proven in two cases. The CCVDs comprised complex conotruncal defects such as tetralogy of Fallot, double outlet right ventricle, transposition of great arteries and truncus arteriosus communis, or anomalies of the derivatives of the branchial arch arteries in association with a ventricular septal defect, including one case of atresia of the ductus arteriosus with pulmonary artery aneurysm and resulting in fetal hydrops. All 13 patients with a deletion of 22q11 showed at least one additional CATCH symptom. Most consistently, facial dysmorphy was apparent (92%), while hypocalcemia, mostly at threshold values, was present in 62% and thymic hypoplasia including borderline low T-lymphocyte numbers was observed in 41%. None of the patients presented with a cleft palate. A high intrafamilial variability in expression was also evident with respect to the CCVD. Our findings indicate that seemingly isolated complex cardiovascular defects associated with a 22q11 microdeletion most probably do not represent a distinct subgroup within the CATCH-22 complex but are syndromal in nature with extracardiac features that are often overlooked.

Access this article

Log in via an institution

Subscribe and save

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

Author information

Authors and Affiliations

  1. Abteilung für Klinische Genetik der Philipps-Universität Marburg, Bahnhofstrasse 7, D-35033 Marburg, Germany Fax: +49-6421-288920, , , , , , DE
    Yasmin Mehraein, Thi Kim Nhan Ngo, Ulrike Hillig, Marina Giersberg, Barbara Fritz & H. Rehder
  2. Abteilung f. Kinderkardiologie der Johannes-Gutenberg-Universität Mainz, Langenbeckstrasse 1, D-55101 Mainz, Germany, , , , , , DE
    C.-F. Wippermann & Ina Michel-Behnke
  3. Institut für Humangenetik der Justus Liebig Universität Giessen, Schlangenzahl 14, D-35392 Giessen, Germany, , , , , , DE
    Ute Aulepp
  4. Medizinisches Zentrum für Kinderheilkunde der Philipps-Universität Marburg, Deutschhausstrasse 12, D-35033 Marburg, Germany, , , , , , DE
    H. Barth

Authors

  1. Yasmin Mehraein
    You can also search for this author inPubMed Google Scholar
  2. C.-F. Wippermann
    You can also search for this author inPubMed Google Scholar
  3. Ina Michel-Behnke
    You can also search for this author inPubMed Google Scholar
  4. Thi Kim Nhan Ngo
    You can also search for this author inPubMed Google Scholar
  5. Ulrike Hillig
    You can also search for this author inPubMed Google Scholar
  6. Marina Giersberg
    You can also search for this author inPubMed Google Scholar
  7. Ute Aulepp
    You can also search for this author inPubMed Google Scholar
  8. H. Barth
    You can also search for this author inPubMed Google Scholar
  9. Barbara Fritz
    You can also search for this author inPubMed Google Scholar
  10. H. Rehder
    You can also search for this author inPubMed Google Scholar

Additional information

Received: 25 July 1996 / Revised: 15 October 1996

Rights and permissions

About this article

Cite this article

Mehraein, Y., Wippermann, CF., Michel-Behnke, I. et al. Microdeletion 22q11 in complex cardiovascular malformations.Hum Genet 99, 433–442 (1997). https://doi.org/10.1007/s004390050385

Download citation

Keywords