*108800 ATRIAL SEPTAL DEFECT; ASD
Alternative
titles; symbols
ASD, HLA-LINKED, INCLUDED
ASD2, INCLUDED
TABLE OF
CONTENTS
Gene Map Locus: 6p21.3
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TEXT
This congenital heart defect is almost always
sporadic, but occasional families in which multiple
persons have isolated ASD suggest that a single
'major' gene may sometimes be responsible. The
family reported by Zuckerman
et al. (1962) suggests dominant inheritance.
Zetterqvist (1960)
reported a family with 8 proved cases and 5
probable cases of ASD of secundum type in 3
generations. Johansson and
Sievers (1967) found 6 proved and 1 probable
case of ASD in 3 generations. Furthermore, they
were able to show that Zetterqvist's and their
cases traced their ancestry to a common couple who
lived in the 18th century. Zetterqvist
et al. (1971) gave a full report on the family
which they felt provided strong evidence for the
existence of a single major gene as a determining
factor. Sanchez-Cascos
(1972) examined 109 cases of ASD, 84 of the
ostium secundum type and 25 of the ostium primum
type; of these, 92 presented ASD as an isolated
defect and 17 were associated with other
malformations. He concluded, from the incidence of
familial aggregation among first-degree relatives
of affected cases, from the fact that the sex ratio
deviated from 1 for his cases (0.64 males per 1
female), and from other findings, that
multifactorial inheritance is consistent with the
demonstrated pattern of transmission. He also
reported significant dermatoglyphic findings in
these ASD cases--a high proportion of whorls and a
parallel diminution in the number of ulnar loops.
Mohl and Mayr (1977)
studied 3 multigeneration families with secundum
type ASD and found no recombination with HLA (which
is at 6p21.3). The data yielded a lod score of
+3.612 at a recombination fraction of 0.000, but
the confidence limits were wide. The gene for the
HLA-linked form has been symbolized ASD2 at Human
Gene Mapping Workshops. Insufficient information
was given to know whether this was the Holt-Oram
syndrome (142900)
or ASD with conduction defect (108900)
rather than this entity. Lynch
et al. (1978) restudied a large kindred
reported by Zuckerman et al.
(1962) and concluded that two autosomal
dominant forms of ASD occur: one with (108900)
and one without prolongation of the PR interval.
Li Volti et al. (1991)
observed 3 Sicilian families in which 17 persons
(10 females and 7 males) had atrial septal defect
of the ostium secundum type without conduction
defects. There were several instances of
male-to-male transmission.
REFERENCES
- 1. Johansson, B. W.;
Sievers, J. :
- Inheritance of atrial septal defect.
(Letter) Lancet I: 1224-1225,
1967.
PubMed ID : 4165146
- 2. Li Volti, S.;
Distefano, G.; Garozzo, R.; Romeo, M. G.;
Sciacca, P.; Mollica, F. :
- Autosomal dominant atrial septal
defect of ostium secundum type: report of three
families. Ann. Genet. 34:
14-18, 1991.
PubMed ID : 1952784
- 3. Lynch, H. T.;
Bachenberg, K.; Harris, R. E.; Becker, W. :
- Hereditary atrial septal defect:
update of a large kindred. Am. J.
Dis. Child. 132: 600-604, 1978.
PubMed ID : 148839
- 4. Mohl, W.; Mayr,
W. R. :
- Atrial septal defect of the secundum
type and HLA. Tissue Antigens
10: 121-122, 1977.
PubMed ID : 70860
- 5. Sanchez-Cascos,
A. :
- Genetics of atrial septal
defect. Arch. Dis. Child. 47:
581-588, 1972.
PubMed ID : 4261647
- 6. Zetterqvist, P.
:
- Multiple occurrence of atrial septal
defect in a family. Acta
Paediat. 49: 741-747, 1960.
- 7. Zetterqvist, P.;
Turesson, I.; Johansson, B. W.; Laurell, S.;
Ohlsson, N. M. :
- Dominant mode of inheritance in
atrial septal defect. Clin.
Genet. 2: 78-86, 1971.
PubMed ID : 5116593
- 8. Zuckerman, H. S.;
Zuckerman, G. H.; Mammen, R. E.; Wassermil, M.
:
- Atrial septal defect: familial
occurrence in four generations of one
family. Am. J. Cardiol. 9:
515-520, 1962.
CLINICAL
SYNOPSIS
View
Clinical Synopsis Entry
Victor A. McKusick : 6/4/1986
EDIT HISTORY
mimadm : 4/9/1994
supermim : 3/16/1992
carol : 9/16/1991
carol : 8/23/1990
supermim : 3/20/1990
ddp : 10/26/1989
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