UNSW Embryology
DEVELOPMENT OF THE HEART AND CARDIOVASCULAR SYSTEM
TETRALOGY OF FALLOT
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187500 TETRALOGY OF FALLOTTABLE OF CONTENTSDatabase Links
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TEXTPitt (1962) described
a family in which 11 persons had either tetralogy
of Fallot (TOF) or one of its components. The
diagnosis was confirmed at operation or autopsy in
5 of the 11. The large study of Boon
et al. (1972) led to the conclusions that
heritability is about 54% and that in sibs the
recurrence risk is about 1% for Fallot tetralogy
and about 2% for any cardiac defect. The family
that Der Kaloustian et al.
(1985) reported may be a special type of Fallot
tetralogy, inherited, the authors suggested, as an
autosomal recessive. Two daughters of first cousins
had tetralogy with pulmonary valve atresia. The
bronchial circulation and pulmonary valve anatomy
were identical in the 2 sibs. The parental
consanguinity is of less significance because the
family was Christian Maronite Lebanese, a small
group with a relatively high rate of consanguinity.
Familial tetralogy was reported also by Lynch
et al. (1966) in sibs and by Friedberg
(1974) in 3 generations but none of the
affected, it seems, had pulmonary valve atresia.
Jones and Waldman (1985)
reported a family in which 6 persons in 3
successive generations had some combination of
preauricular pits (4/6), tetralogy of Fallot (3/6),
fifth finger clinodactyly (6/6), and seemingly
characteristic facies (5/6). Features of the facies
included broad forehead and 'prominent' eyes. Among
5 sibs, Pankau et al.
(1990) described tetralogy of Fallot in 3.
Pacileo et al. (1992)
also described tetralogy of Fallot in 3 sibs and a
cousin.
Digilio et al. (1997)
calculated emperic risk figures for recurrence of
isolated tetralogy of Fallot in families after
exclusion of del(22q11). The investigation covered
relatives of 102 patients. Their results showed
that the frequency of congenital heart defect was
3% in sibs, 0.5% in parents, 0.3% in grandparents,
0.2% in uncles or aunts, and 0.6% in first cousins.
The recurrence risk rate for sibs was the same as
that previously estimated, indicating that after
exclusion of patients with del(22q11), genetic
counseling to patients with isolated TF should not
be modified. Digilio et al.
(1997) concluded that gene(s) different from
those located on 22q11 must be involved in causing
familial aggregation of nonsyndromic tetralogy of
Fallot in these cases.
Hirt-Armon et al.
(1996) reported a woman with tetralogy of
Fallot in association with absence of the pulmonic
valve. She gave birth to a female infant with TOF,
extreme hypoplasia and dysplasia of the pulmonary
valve, and type III tracheal agenesis (in this type
the bronchi originate directly from the esophagus).
The authors suggested that this association may
represent a distinct syndrome with autosomal
dominant inheritance. Familial cases of TOF with
congenital absence of the pulmonic valve were
reported by Friedberg
(1974) and Der Kaloustian
et al. (1985).
REFERENCES
CLINICAL SYNOPSIS
CONTRIBUTORSVictor A. McKusick - updated : 4/21/1997
CREATION DATEVictor A. McKusick : 6/2/1986
EDIT HISTORYdholmes : 5/7/1998 |
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