A family study of Fallot's tetralogy.

Boon, A R; Farmer, M B; Roberts, D. F.

doi:10.1136/jmg.9.2.179

Cited by 32 publications

(26 citation statements)

References 33 publications

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“…18,29,30,35 We found a broad spectrum of CHD in relatives, including cases of left heart lesions. Consistent with previous reports of horizontal transmission, 18,34 we found the highest concordance for TOF was among siblings, with decreasing rates of concordance with increasing genetic distance of the relative from the proband.…”

Section: Variable Expression Of Cardiac Phenotypes In Familial Tofmentioning

confidence: 78%

“…29,30,34,35 In particular, ≤15% of TOF cases are now known to be associated with a 22q11.2 deletion, 14,15 where there is a 50% risk of transmission of the deletion at each pregnancy and where individuals with 22q11.2 deletions have a 40% to 60% risk of serious CHD of varying anatomy. 14,16 Furthermore, relatives of adults with CHD and 22q11.2DS are at increased risk for CHD even if they do not have a 22q11.2 deletion themselves.…”

mentioning

confidence: 99%

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Reproductive Fitness and Genetic Transmission of Tetralogy of Fallot in the Molecular Age

Chin-Yee¹,

Costain²,

Swaby³

et al. 2014

Circ Cardiovasc Genet

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Background-Individuals with tetralogy of Fallot (TOF) now routinely survive to reproductive age and beyond. Reproductive fitness of adults with TOF and recurrence risks to offspring are of increasing interest in the modern era, especially given recent molecular genetic discoveries. Methods and Results-After excluding individuals with known genetic syndromes, 543 unrelated adults with TOF underwent a detailed family history assessment and molecular characterization for rare copy number variations using high-resolution genome-wide microarrays. Men and women with TOF had significantly fewer offspring compared with an age-matched comparison group without congenital heart disease (CHD; P=0.0004). No aspect of rare copy number variation burden was a predictor of decreased reproductive fitness. Corresponding with the advent of modern surgical repairs, reproductive fitness of women began to exceed that of men (P=0.0490). Recurrence risk for CHD in offspring was 4.8%, with no significant differences between men and women with TOF. The risk of severe CHD in offspring (2.3%) far exceeded population expectations (relative risk, 15.6; 95% confidence interval, 7.9-31.0). Most cases of vertical transmission of CHD were not explained by the transmission of a large rare copy number variation. Although conotruncal lesions (31.5%) were the most commonly reported CHD in relatives, the familial spectrum of disease included many anatomically discordant lesions. Conclusions-Men

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Section: Variable Expression Of Cardiac Phenotypes In Familial Tofmentioning

confidence: 78%

mentioning

confidence: 99%

Reproductive Fitness and Genetic Transmission of Tetralogy of Fallot in the Molecular Age

Chin-Yee¹,

Costain²,

Swaby³

et al. 2014

Circ Cardiovasc Genet

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“…The usual recurrence rate of TOF in a family has previously been estimated between 1% and 3% [1]. Furthermore a higher incidence of different lesions, particularly ventricular septal defect, pulmonary stenosis and transposition of the great arteries, in a family with a member affected by TOF has also been reported [3,5,6].…”

Section: Discussionmentioning

confidence: 95%

“…Most epidemiological studies report a higher recurrence risk of cardiac malformations (1%-4% ) in families with an affected member than in the general population [1,9,10]. Genetic or environmental factors have been rarely discovered.…”

Section: Introductionmentioning

confidence: 93%

Tetralogy of Fallot in three siblings: a familial study and review of the literature

1992

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We report a family in which three out of four siblings had tetralogy of Fallot (TOF). The family history showed TOF in the daughter of a maternal cousin, while no other congenital heart diseases were discovered. Although no teratogenic environmental agent was discovered, the absence of parental consanguinity and the presence of another affected relative suggest multifactorial inheritance. Autosomal recessive inheritance cannot be ruled out.

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“…The genetics of the tetralogy of Fallot has received special attention, and different patterns of inheritance have been suggested based most often on family studies [Lynch et al, 1966;Cascos, 1971;Boon et al, 1972;Friedberg, 1974;Nora and Nora, 19831. Here we report a family in whom two sisters had tetralogy of Fallot with pulmonary valve atresia. Findings favoring autosomal recessive inheritance of this defect are presented.…”

Section: Introductionmentioning

confidence: 99%

Tetralogy of Fallot with pulmonary atresia in siblings

et al. 1985

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We present two sisters with tetralogy of Fallot and pulmonary valve atresia. Both had identical anatomical findings as seen at cardiac catheterization and angiography and verified operatively, with, in particular, identical bronchial circulation and pulmonary valve structure. The parents are first cousins and there is no history of other affected relatives. We suggest that this is a specific, recessively inherited type of tetralogy of Fallot.

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A family study of Fallot's tetralogy.

Cited by 32 publications

References 33 publications

Reproductive Fitness and Genetic Transmission of Tetralogy of Fallot in the Molecular Age

Reproductive Fitness and Genetic Transmission of Tetralogy of Fallot in the Molecular Age

Tetralogy of Fallot in three siblings: a familial study and review of the literature

Tetralogy of Fallot with pulmonary atresia in siblings

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