Tetralogy of Fallot with pulmonary atresia and total anomalous pulmonary venous connection: Surgical management of a rare combination of congenital heart defects

2011 ◽  
Vol 59 (S 01) ◽  
Author(s):  
LF Duebener ◽  
C Yerebakan ◽  
TKS Kumar ◽  
M Donofrio ◽  
J Becker ◽  
...  
Keyword(s):  
Tetralogy Of Fallot ◽  
Surgical Management ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Pulmonary Atresia ◽  
Rare Combination ◽  
Anomalous Pulmonary Venous Connection

Surgical management of congenital heart defects in adolescent and adult patients, between years 2001–2008

2009 ◽  
Vol 150 (37) ◽  
pp. 1739-1743 ◽  
Author(s):  
István Hartyánszky ◽  
Andrea Székely ◽  
László Király ◽  
Zsolt Prodán ◽  
Sándor Mihályi ◽  
...  
Keyword(s):  
Surgical Management ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Adult Patients

A felnőttkorban operált veleszületett szívhibák között vezetnek az I. rekonstrukciós beavatkozások: a) frissen felismert betegségek, b) megelőzően inoperábilisnak ítélt kórképek, c) pulmonalis hypertonia, jobbkamra-elégtelenség miatt „elkésett” műtétek. Növekszik a II. REDO műtétek száma: a) residuumok korrigálása, b) kinőtt, diszfunkciós homograftok cseréje, c) műtéti/intervenciós korrigálás utáni recoarctatio (aneurysma, dissectio) sebészete, d) aorta valvulotomia/valvuloplastica, illetve társvitiumok (TGA) korrigálásának következményeként Ross-műtét, műbillentyű-beültetés . Betegek, eredmények: A 2001–2008 között végzett 4496 műtét közül 166 volt fiatal-felnőtt korú (16–52, átlagéletkor: 28 év) (Ia: 77, Ib: 15, Ic: 4, IIa: 11, IIb: 22, IIc: 9, IId: 28). Műtéti mortalitás nem volt, 1 beteg pulmonalis hypertoniás krízisben, 1 jobbkamra-elégtelenség miatti malignus ritmuszavarban, 2 többszerv-elégtelenségben halt meg. Konklúzió: A rizikófaktorokat a pulmonalis hypertonia és a jobbkamra-elégtelenség jelenti. A bonyolult sebészi megoldások a „congenitalis szívsebész” számára nem jelentenek problémát, de koraibb diagnózisok, terápiában az extracorporalis membránoxigenátor használata az eredményeket javíthatja.

An unusual case of tetralogy of Fallot with an absent pulmonary valve associated with a retro-aortic innominate vein in a patient with a 16p12.2 microdeletion

2021 ◽  
pp. 1-2
Author(s):  
Niall Linnane ◽  
Andrew Green ◽  
Colin J. McMahon
Keyword(s):  
Aortic Arch ◽  
Tetralogy Of Fallot ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Unusual Case ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Innominate Vein ◽  
Absent Pulmonary Valve ◽  
Rare Association

Abstract 16p12.2 microdeletion has been associated with congenital heart defects and developmental delay. In this case, we describe the rare association between tetralogy of Fallot with an absent pulmonary valve a right-sided aortic arch and a retro-aortic innominate vein associated with a 16p12.2 microdeletion and epilepsy.

scholarly journals Genetic syndromes and congenital heart defects: how is surgical management affected?

2009 ◽  
Vol 35 (4) ◽  
pp. 606-614 ◽  
Author(s):  
Roberto Formigari ◽  
Guido Michielon ◽  
Maria Cristina Digilio ◽  
Gerardo Piacentini ◽  
Adriano Carotti ◽  
...  
Keyword(s):  
Surgical Management ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Genetic Syndromes

Maternal Graves’ disease and fetal tetralogy of Fallot: a case series

2019 ◽  
Vol 8 (2) ◽  
Author(s):  
Sushitha Surendran ◽  
Jason N. Johnson
Keyword(s):  
Tetralogy Of Fallot ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Current Knowledge ◽  
Heart Defects ◽  
Case Series ◽  
Thyroid Function Test ◽  
Thyroid Storm ◽  
Graves Disease ◽  
Normal Thyroid Function

Abstract Background Congenital heart defects have been reported with the use of antithyroid medication with ventricular septal defects (VSD) being the most common. As per the current practice guidelines maternal Graves’ disease (GD) is not an indication for fetal echocardiogram. Case presentation We described three neonates with tetralogy of Fallot (TOF) born to mothers with GD. Only one of the mothers was on antithyroid medication. Two of these neonates were diagnosed postnatally when they failed the pulse oximeter congenital cardiac screening and diagnosis was established by postnatal echocardiogram. Two of the mothers had radioactive iodine ablation and were on levothyroxine during pregnancy. The dose of levothyroxine was increased during pregnancy. There was no other complication during pregnancy. The third mother had hyperthyroidism and developed a thyroid storm during pregnancy requiring inpatient admission and treatment with propylthiouracil (PTU), metoprolol and methimazole. All babies had normal thyroid function test postnatally and eventually had successful repair of TOF defect. Conclusion We report the largest known case series of children with TOF born to mothers with GD. Apart from the isolated reports of fetal TOF in mothers with GD, there is no clear association between fetal TOF and maternal GD and antithyroid medication. Based on the review of the literature and our case series, there may be an increased incidence of congenital heart defects in maternal GD irrespective of antithyroid medication use. This case series may add to the current knowledge base and support routine fetal echocardiogram screening for all mothers with GD.

scholarly journals The study of copy number variations in the regions of PRKAB2 and PPM1K among congenital heart defects patients

2019 ◽  
Vol 65 (6) ◽  
pp. 786-790
Author(s):  
Han-Quan Dong ◽  
Yue-Xin Du
Keyword(s):  
Ventricular Septal Defect ◽  
Tetralogy Of Fallot ◽  
Congenital Heart Defects ◽  
Copy Number ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Copy Number Variations ◽  
Chinese Han ◽  
Han Population

SUMMARY OBJECTIVE: This study was to assess the genetic association of copy number variations in two genes (PRKAB2 and PPM1K) located in two regions (tetralogy of Fallot and ventricular septal defect) in a Chinese Han population. METHODS: A total of 200 congenital heart disease patients (100 tetralogy of Fallot patients and 100 ventricular septal defect patients) and 100 congenital heart defect-free controls were recruited, and quantitative real-time PCR analysis was used to replicate the association of two copy number variations with congenital heart defects in a Chinese Han population. RESULTS: One deletion at PRKAB2 and one duplication at PPM1K were found in two of the tetralogy of Fallot patients, respectively; while all these regions were duplicated in both ventricular septal defect patients and in the 100 congenital heart defects-free controls. CONCLUSIONS: We replicated the copy number variations at the disease-candidate genes of PRKAB2 and PPM1K with tetralogy of Fallot in a Chinese Han population, and in patients with ventricular septal defect mutations in these two genes were not found. These results indicate the same molecular population genetics exist in these two genes with different ethnicity. This shows that these two genes are possibly specific pf tetralogy of Fallot candidates.

scholarly journals PREVALENCE OF CONGENITAL HEART DISEASE IN UMERKOT

2021 ◽  
Vol 70 (Suppl-4) ◽  
pp. S824-27
Author(s):  
Mohsin Saif ◽  
Abdul Fatah ◽  
Waqas Akhtar ◽  
Farah Javed ◽  
Ali Mujtaba Tahir ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Ventricular Septal Defect ◽  
Tetralogy Of Fallot ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Cross Sectional ◽  
Male Preponderance

Objective: To study the prevalence and the pattern of distribution of congenital heart disease.Study Design: Descriptive cross-sectional study.Place and Duration of Study: The study was conducted at outpatient department (OPD) of CMH Chhor and DHQ Umerkot, Sindh (Pakistan), from Dec 2019 to Mar 2020.Methodology: All the children (<12 years age) presenting to Paediatric OPD of the two hospitals were enrolled into study. Any patient with either a history or clinical examination pointing towards a suspected congenital heart disease was referred to Paediatric Cardiologist for 2-D echocardiogram. Details of the patient were recorded on designated proforma. Results: A total of 273 patients were diagnosed with congenital heart disease. Out of these, 114 (41.7%) were female and 159 (58.2%) were male (male: female of 1.4:1). The age of the children was ranging from 2 months to 12 years, 153 (56.04%) had simple heart defects, while 120 (43.9%) had complex or multiple congenital heart anomalies. Amongst the 273 patients, 25.3% were cyanotic and 74.7% had acyanotic heart disease. Most common lesion identified was ventricular septal defect (29.6%), followed by Tetralogy of Fallot in 20.8%. Conclusion: Acyanotic heart defects confirms to the major bulk of congenital heart defects with male preponderance.

Elevated birth prevalence of conotruncal heart defects in a population with high consanguinity rate

2016 ◽  
Vol 27 (1) ◽  
pp. 109-116 ◽  
Author(s):  
Moshe Stavsky ◽  
Renana Robinson ◽  
Maayan Yitshak Sade ◽  
Hanah Krymko ◽  
Eli Zalstein ◽  
...  
Keyword(s):  
Tetralogy Of Fallot ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Medical Center ◽  
Heart Defects ◽  
Paternal Age ◽  
Truncus Arteriosus ◽  
Birth Prevalence ◽  
Live Births ◽  
Conotruncal Heart Defects

AbstractBackgroundThe aetiology of conotruncal heart defects is poorly understood and the birth prevalence varies geographically. The known risk factors for developing conotruncal heart defects are as follows: CHD in siblings, genetic chromosomal abnormalities, paternal age >30 years, high parity, low birth weight, prematurity, and maternal diabetes.ObjectiveThe aim of this study was to characterise conotruncal heart defects, birth prevalence, mortality, and morbidity in the population of southern Israel, of whom 75% are Jewish and the rest are mostly Bedouin Arabs.MethodsThe data were obtained from Soroka University Medical Center database of births and newborns. Conotruncal heart defects cases were identified by ICD9 codes.ResultsDuring 1991–2011, there were 247,290 singleton live births and 393 conotruncal heart defects in Soroka University Medical Center. The birth prevalence per 10,000 live births of tetralogy of Fallot, transposition of the great arteries, and truncus arteriosus was 9.5, 5, and 1.8, respectively. In the multivariate analysis, Bedouin descent (adjusted odds ratio 2.40, p<0.001), maternal age >35 years (1.66, p=0.004), and siblings with congenital heart defects (1.98, p=0.005) were associated with tetralogy of Fallot, and Bedouin descent (1.61, p=0.05), siblings with congenital heart defects (2.19, p=0.004), and diabetes mellitus (7.15, p<0.001) were associated with transposition of the great arteries. In a univariate analysis, Bedouin descent (p=0.004) and congenital heart defects in siblings (p<0.001) were associated with truncus arteriosus.ConclusionWe observed higher birth prevalence of conotruncal heart defects compared with the birth prevalence reported worldwide, specifically among the Bedouins, a population characterised with high consanguinity rate. Therefore, genetic counselling and early fetal echocardiograms should be encouraged, especially in high consanguinity rate populations. Naturally, further educational efforts are needed in order to decrease consanguinity and its related consequences.

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