Patterns of cardiac and extracardiac anomalies in adults with tetralogy of Fallot

Piran, Sara; Bassett, Anne S.; Grewal, Jasmine; Swaby, Jodi-Ann; Morel, Chantal F.; Oechslin, Erwin; Redington, Andrew N.; Silversides, Candice K.

doi:10.1016/j.ahj.2010.09.015

Cited by 31 publications

(32 citation statements)

References 34 publications

(12 reference statements)

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“…[5][6][7][8][9][10][11] Rare CNVs 7 and syndromal (extracardiac) features 7,12 could influence reproductive fitness and transmission patterns in TOF, as is the case with 22q11.2 deletions and the associated 22q11.2 deletion syndrome (22q11.2DS). [13][14][15][16][17][18] Furthermore, an understanding of typical familial segregation patterns and other aspects of family history would help with the interpretation of emerging and novel molecular genetic risk factors (both de novo and inherited) for TOF.…”

Section: Clinical Perspective On P 109mentioning

confidence: 99%

“…7,12 Briefly, diagnoses of TOF were confirmed by echocardiogram and cardiac catheterizations, as well as review of lifetime medical records; this sample is representative of adults with TOF with respect to cardiac and functional outcomes. 7,12 Individuals with known genetic syndromes such as 22q11.2DS and trisomy 21 (Down syndrome) were excluded a priori from this cohort. In total, 575 individuals with TOF were available for study after these initial exclusions.…”

Section: Clinical and Molecular Characterization Of Participantsmentioning

confidence: 99%

“…All participants underwent a structured clinical assessment for extracardiac features blind to genotype 12,19 and were classified as syndromic if they met at least 2 of 3 criteria: dysmorphic facial features, hypernasal voice, and history of learning difficulties. 7,19 Standard karyotype analysis and fluorescence hybridization with a standard probe from the 22q11.2 region, 19 and high-resolution Affymetrix Genome-Wide Human SNP Array 6.0 CNV analysis and adjudication, 7 was performed for 64 (88%) of 73 syndromic and 355 (76%) of 470 nonsyndromic patients; none had a 22q11.2 deletion.…”

Section: Clinical and Molecular Characterization Of Participantsmentioning

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: Clinical Perspective On P 109mentioning

confidence: 99%

Section: Clinical and Molecular Characterization Of Participantsmentioning

confidence: 99%

Section: Clinical and Molecular Characterization Of Participantsmentioning

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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“…TOF itself has some weird accompanies as schizophrenia [8]. Its surgical correction has some longstanding complications as RBBB and PI [6,7], as happened in our case too.…”

Section: Discussionmentioning

confidence: 76%

Tetralogy of Fallot cases: Prone to be Affected by Malignancies or just a Coincidence?

Radgoudarzi¹,

Hosseininejad²,

Aarabi³

et al. 2017

JCR

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Background: The tendency of developing malignancy in patients with congenital heart defects has been well documented. Osteosarcoma and tetralogy of Fallot (TOF) have never been so far reported to happen in a single patient. Case Report: An 8.5-year-old boy with history of repaired tetralogy of Fallot (TOF) one year back presented with refractory leg pain most frequently at nights. CT scan, bone scan and bone biopsy of the proximal part of the left fibula revealed: high grade intramedullary osteogenic sarcoma (OS) of osteochondroblastic type. Conclusion: According to latest genetic studies TOF and OS don't share any common genetic background; it would be interesting for clinicians to have in mind such tendency between TOF and OS to investigate if they share any origin genetically or developmentally?

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“…The anatomic spectrum is wide and may include TOF with pulmonary stenosis, TOF with pulmonary atresia, TOF with absent pulmonary valve syndrome (APVS) and TOF with complete atrioventricular septal defect (CAVSD). TOF with pulmonary stenosis comprises 79.7% of all cases and have variable clinical spectrum [3][4][5]. Total correction is an ideal treatment in these patients and should be offered as early as possible in order to prevent the long term complications [6].…”

Section: Introductionmentioning

confidence: 99%

Perioperative Major Aortopulmonary Collateral Arteries (MAPCAs) Coiling in Tetralogy of Fallot Patients Undergoing for Total Correction

2015

JCCR

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Background: Tetralogy of Fallot (TOF) is characterized by ventricular septal defect, an overriding aorta, varying degrees of pulmonic stenosis, and right ventricular hypertrophy. It may be associated with a number of lesions including development of major aortopulmonary collateral arteries (MAPCAs) in less than 5% of cases. In this study we just focused on the management of MAPCAs.Methodology: TOF patients with significant MAPCAs were selected after cardiac catheterization and planned for transcatheter embolization just before surgery.Results: A total of 45 patients underwent transcatheter closure of MAPCAs just before surgical correction with 100% success rate. The age varied from 3-30 years and 55% (n=25) were female. In majority 60% (n=27) the procedure was carried out under deep sedation with local anaesthesia while 18 (40%) patients had general anaesthesia. There was insignificant residual leak in 2 (4%) patients, transient bradycardia (n=1) and hypercyanotic spell in 4% (n=2). No serious complications or death occurred during this study period. Conclusion:Transcatheter coiling of MAPCAs is safe, easy, and effective procedure and protects the patient from its long term devastating complications.

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Patterns of cardiac and extracardiac anomalies in adults with tetralogy of Fallot

Cited by 31 publications

References 34 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 cases: Prone to be Affected by Malignancies or just a Coincidence?

Perioperative Major Aortopulmonary Collateral Arteries (MAPCAs) Coiling in Tetralogy of Fallot Patients Undergoing for Total Correction

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