The inheritance of conotruncal malformations: a review and report of two siblings with tetralogy of Fallot with pulmonary atresia

Introduction: Neonates with tetralogy of Fallot and pulmonary atresia (TOF/PA) with pulmonary blood flow supplied by the ductus arteriosus require early intervention. This may be accomplished by: initial palliation (IP) followed by complete repair (CR) or initial primary repair (PR). The optimal approach for patients with TOF/PA has not been established. Methods: Neonates with TOF/PA who underwent IP or PR from 2005-17 were retrospectively reviewed from the Congenital Catheterization Research Collaborative. The primary outcome was mortality. Outcomes were compared as IP vs PR and IP+CR vs PR. Secondary outcomes included hospital and procedural complications and are listed in table 1. Propensity scoring was used to adjust for baseline differences between strategies. Results: Of 282 neonates with TOF/PA, 106 underwent PR and 176 underwent IP (144 surgical, 32 transcatheter). Prior to initial intervention, IP patients had higher rates of mechanical ventilation (83.9% vs 72.2%, p=0.023) and DiGeorge syndrome (14.77% vs 4.72%, p=0.009). Mortality was greater in the IP cohort (HR 2.7, 95% CI 1.02 - 7.1, p = 0.046), with no mortality in the PR cohort after 6 months post-repair. After adjustment, differences in survival were no longer significant (HR 1.4, 95% CI 0.7 - 3.1, p=0.39). Both cohorts had similar mechanical ventilation duration and inotrope use as well as procedural and hospital complications. Intensive care and hospital length of stay, cardiac bypass (CPB) and anesthesia time favored PR when compared to IP+CR (p=<0.001). Early reintervention was more common in patients undergoing IP (rate ratio 1.42, p 0.003), but post-complete repair rates were similar (p=0.837). Conclusions: In neonates with TOF/PA, the IP approach is more often utilized in higher-risk patients. Accounting for this difference, IP and PR strategies have similar adjusted survival rates. Perioperative morbidities and lower risk for reintervention generally favor PR.

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22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia

Heart ◽

10.1136/hrt.2009.182642 ◽

2010 ◽

Vol 96 (8) ◽

pp. 621-624 ◽

Cited By ~ 31

Author(s):

K. van Engelen ◽

A. Topf ◽

B. D. Keavney ◽

J. A. Goodship ◽

E. T. van der Velde ◽

...

Keyword(s):

Tetralogy Of Fallot ◽

Pulmonary Atresia ◽

22Q11.2 Deletion Syndrome ◽

Adult Patients ◽

Deletion Syndrome ◽

22Q11.2 Deletion

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Pre-operative evaluation with MR in tetralogy of fallot and pulmonary atresia with ventricular septal defect

Acta Radiologica ◽

10.1080/028418501127346251 ◽

2001 ◽

Vol 42 (1) ◽

pp. 63-69 ◽

Cited By ~ 31

Author(s):

C. Holmqvist ◽

P. Hochbergs ◽

G. Björkhem ◽

S. Brockstedt ◽

S. Laurin

Keyword(s):

Ventricular Septal Defect ◽

Tetralogy Of Fallot ◽

Septal Defect ◽

Pulmonary Atresia ◽

Operative Evaluation

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Ventricular growth, measured by cardiac MRI, is not different in patients with tetralogy of fallot versus pulmonary atresia with intact ventricular septum or critical pulmonary stenosis after right ventricular outflow tract reconstruction

Journal of Cardiovascular Magnetic Resonance ◽

10.1186/1532-429x-16-s1-o106 ◽

2014 ◽

Vol 16 (S1) ◽

Author(s):

Jon Detterich ◽

Abraham Kaslow ◽

Jay D Pruetz ◽

John Wood

Keyword(s):

Right Ventricular ◽

Tetralogy Of Fallot ◽

Cardiac Mri ◽

Pulmonary Stenosis ◽

Pulmonary Atresia ◽

Right Ventricular Outflow Tract ◽

Ventricular Outflow Tract ◽

Ventricular Septum ◽

Intact Ventricular Septum ◽

Critical Pulmonary Stenosis

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Anesthetic Management During Surgery for Tetralogy of Fallot With Pulmonary Atresia and Major Aortopulmonary Collateral Arteries

World Journal for Pediatric and Congenital Heart Surgery ◽

10.1177/2150135118754522 ◽

2018 ◽

Vol 9 (2) ◽

pp. 236-241 ◽

Cited By ~ 4

Author(s):

Zoel A. Quinonez ◽

Laura Downey ◽

Rania K. Abbasi ◽

Calvin Kuan ◽

Ritu Asija ◽

...

Keyword(s):

Tetralogy Of Fallot ◽

Anesthetic Management ◽

Pulmonary Atresia ◽

Major Aortopulmonary Collateral Arteries ◽

Collateral Arteries ◽

Aortopulmonary Collateral

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Abstract 16503: Comparison of Management Strategies for the Neonate With Symptomatic Tetralogy of Fallot and Hypoplastic Branch Pulmonary Arteries: Results From the Congenital Catheterization Research Collaborative

Circulation ◽

10.1161/circ.142.suppl_3.16503 ◽

2020 ◽

Vol 142 (Suppl_3) ◽

Author(s):

Christopher J Petit ◽

Mark Law ◽

Andrew C Glatz ◽

Paul Chai ◽

Jennifer Romano ◽

...

Keyword(s):

Tetralogy Of Fallot ◽

Reference Group ◽

Primary Repair ◽

Management Strategies ◽

Pulmonary Arteries ◽

Pulmonary Atresia ◽

Treatment Strategies ◽

Z Score ◽

Risk Management Strategies ◽

Secondary Outcomes

Introduction: Symptomatic neonates with tetralogy of Fallot (sTOF) and hypoplastic branch pulmonary arteries (hPA) are at high risk. Management strategies include staged repair (SR) - initial palliation (IP) followed by later complete repair (CR) - or primary repair (PR). A balanced comparison of these approaches is needed in the sTOF neonate with hPA. Methods: Consecutive neonates with sTOF and hPA - defined as one hPA z-score <-2.0 with contralateral z-score <0 - who underwent SR or PR from 2005-17 were retrospectively reviewed by the Congenital Catheterization Research Collaborative. Primary outcome was mortality and secondary outcomes included component (IP, CR, PR) and cumulative (SR): hospital, ICU and surgical morbidities, and reintervention. Outcomes were compared between treatment strategies using propensity score adjustment (PSA) to account for baseline differences between groups (PR=reference group). Results: The cohort comprised 188 neonates including 121 SR (IP: 29 transcatheter; 54 surgery) and 67 PR patients. Presence of pulmonary atresia, lower gestational age and birthweight were more common in the SR cohort. Median right and left hPA z-scores were -2.19 (IQR -2.65, -1.92) and -2.33 (-2.84, -1.99), respectively. There were significant differences in treatment strategy across centers (p<0.01). Overall survival was similar between groups, before (p=0.33) and after PSA (HR 1.91, 0.48-7.7, p=0.36). Reintervention was more common in the SR group overall (HR 1.7, 1.03-2.7, p=0.04), but there was no difference after definitive repair (HR 1.21, 0.71-2.0, p=0.49). Secondary outcomes are shown in Table 1. Conclusions: In this multicenter comparison of SR or PR for management of neonates with sTOF and hPA, after PSA, no difference in mortality was found. Neonatal morbidities largely favored the SR group, but cumulative morbidities and reintervention favored the PR group. Further study is needed to determine late impact of these early advantages to SR.

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OBSERVATIONS ON 26 INFANTS UNDER ONE YEAR OF AGE OPERATED ON FOR TETRALOGY OF FALLOT OR TRICUSPID ATRESIA

PEDIATRICS ◽

10.1542/peds.7.3.341 ◽

1951 ◽

Vol 7 (3) ◽

pp. 341-346

Author(s):

C. R. LEININGER ◽

STANLEY GIBSON

Keyword(s):

Tetralogy Of Fallot ◽

Pulmonary Atresia ◽

Tricuspid Atresia ◽

One Year

Since September 1946, surgical relief for tetralogy of Fallot or tricuspid atresia has been performed in 234 instances. During this period an anastomosis has been created in 24 infants under 1 year of age. Pulmonary atresia prevented an anastomosis in two additional infants. In those children in whom an anastomosis was possible, the mortality was 33.3% under 1 year of age as compared to an over-all mortality of 9.8%, with a mortality of only 2.9% between the ages of 3 and 16 years. The reasons for this higher mortality in infants are explained and surgical relief in selected cases is recommended.

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