Congenital cardiovascular malformations (CCVM) and structural chromosome abnormalities: a report of 9 cases and literature review

Abstract

Nine cases of congenital cardiovascular malformations (CCVM) with associated unbalanced structural chromosomal abnormalities were ascertained in a population‐based study of heart defects, constituting 0.4% of the 2,103 cases of CCVM in the Baltimore‐Washington Infant Study (BWIS). This represents a four‐fold increase over the general population rate. In an effort to determine possible phenotype/karyotype correlations, the literature was searched for cases with similar karyotypic abnormalities. This comparison of 223 literature cases of karyotypic abnormalities with nine similar cases ascertained by heart malformation has provided the opportunity to review cardiac defects reported in cases of structural abnormalities of chromosomes 1, 3, 7, 8, 9, 10, 11, 15, and 18. The most common cardiac malformation present in the chromosomal cases was ventricular septal defect (VSD) (39%); similarly VSD is the most common CCVM among children with heart defects, although it is the primary defect in only 20% of the BWIS cases. Among all heart defects in the BWIS, atrial septal defect (ASD) represents 5.5% of all cases, but in cases of 8p duplication, ASD is present in 41%. In addition, 40% of cases of 9p duplication had an ASD. Similarly, 35% of cases of 11q duplication had an ASD. While the suggestion of specific karyotype/phenotype associations is premature, information on additional cases might clarify the possibility that genetic determinants related to septum formation may reside on chromosome 8, 9, and/or 11. The variety of chromosomal abnormalities in cases with ventricular septal defect indicates one type of genetic heterogeneity that may be involved in this very common heart defect.

A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature

“…Microcephaly, heart defects, palate abnormalities, and minor Lurie et al [1979] with a partial trisomy 11q13 -qter due to an unbalanced translocation with chromosome 2 with a breakpoint at 2q37 had high arched palate, dysplastic ears, small mouth, and mental and developmental delay. The case reported by Roskes et al [1990] had trisomy 11q (11q14) with monosomy of 7p. The phenotype included hypotonia, PDA, and ASD.…”

Agenesis of the corpus callosum in mosaic tetrasomy 8p

“…telomere MLPA or comparative genomic hybridization), before confidently excluding a diagnosis of mosaic tetrasomy 8p. (Kristoffersson et al, 1988); 2,3 (Robinow et al, 1989); 4 (Roskes et al, 1990;Lurie et al, 1995); 5 (Newton et al, 1993); 6 (Tilstra et al, 1993); 7 (Fisher et al, 1993);8,9 (Schrander-Stumpel et al, 1994); 10 (Winters et al, 1995); 11 (Napoleone et al, 1997);12 (Ló pez-Pajares et al, 2003); 13 (Le Bris et al, 2003); 14 (Nucaro et al, 2006); 15 (our patient). + , characteristic present; ft, full term; NA, not applicable as original reports were too early in life; T, termination; uc, unable to comment as patient deceased.…”

Hybrid management of a large atrial septal defect and a patent ductus arteriosus in an infant with chronic lung disease

“…On the other hand, at the time the patient was transferred to our unit, the three sources of increased pulmonary blood flow (ASD, VSD, and PDA) certainly contributed to the severe nature of the respiratory status, with pulmonary hypertension and oxygen dependency. Although a higher incidence of congenital heart defects has been reported in patients with chromosomal abnormalities,[10] including those with defects in chromosome 8,[11] whether the underlying clinical picture was intrinsically associated with the excessive material in chromosome 8 in our patient is speculative.…”