Cardiovascular malformations in DiGeorge syndrome (congenital absence of hypoplasia of the thymus).

Abstract

31 December 1979 performed at the University Hospital Gasthuisberg over a three-year period, the anatomy of the thymus was carefully examined as a routine. Ten patients with agenesis or hypoplasia of the thymus were found. Stress involution was differentiated from hypoplasia on the basis of the symmetrical aspect of the shrinkage and the persistence of the normal bilobed anatomy. In hypoplasia at least one lobe of the thymus is completely absent. Thymic aplasia was defined as the absence of thymic tissue in the upper mediastinum. In nine of the 10 patients the tissue of the anterosuperior mediastinum and neck, which had been removed en bloc, was serially sectioned at 5 V. and every 10th section was stained and histologically examined. All 10 patients had presented to the departments of paediatric cardiology or neonatology with cardiac symptoms and signs. Ventricular septal defects were classified after Goor and Lillehei4 and truncus arteriosus after Collett and Edwards.5 Two types of interrupted aortic arch6 were distinguished: interruption distal to the left subclavian artery (type A) and interruption distal to the left common carotid artery (type B). This terminology was also applied, 452

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

“…10,11 Estimating the fraction with a syndrome or genetic condition is challenging, although it can be approximated from the population-based Baltimore-Washington Infant Study in which nearly 17% of infants with a CVM had an identifiable syndrome. 3 The copy number variations (CNVs) resulting from instability of regional genomic architecture 12 are an important cause of CVMs 13 such as DiGeorge syndrome (22q11.2 deletion) 14 and Williams syndrome (7q11.23 deletion). 15 Other genomic disorders associated with CVMs include Smith-Magenis syndrome, 16 17q21.3 microdeletion syndrome 17 and 17q23.1q23.2 recurrent microdeletion syndrome.…”

The Immunocompetence of Children with Congenital Heart Disease

“…Certain immunodeficiency syndromes have a high association with congenital heart disease, including Down's syndrome [1], congenital asplenia [2] and Di George syndrome [3][4][5], The latter is a congenital im munodeficiency disorder characterised by absence or hypoplasia of the thymus and parathyroid glands, cardiovascular defects particularly involving the aor tic arch and conotruncus, and facial dysmorphism.…”

A Surgical Case of Persistent Truncus Arteriosus Type I with Digeorge Syndrome

“…2,3 Complicated cardiovascular anomalies are well-known concomitants of the syndrome, present in nearly all patients. 2,3,5,6 These have been classified into two categories: aortic arch anomalies (right aortic arch, interrupted aortic arch, aberrant origin of the subclavian arteries); and conotruncal anomalies (persistent truncus arteriosus, tetralogy of Fallot). These combinations are not as rare as generally thought previously.…”

“…The essential feature of DiGeorge syndrome is congenital absence or hypoplasia of the thymus and parathyroid glands, 1 and these are rather well-known anatomical associations. 2,6 However, we have recently encountered a patient with persistent truncus arteriosus type I with double-chambered right ventricle and multiple ventricular septal defects as well as DiGeorge syndrome. To our knowledge this combination has not been recorded in the surgical literature.…”