Tetralogy of Fallot in a neonate following intrauterine exposure to valproic acid

SummaryValproic acid is a known teratogen, giving rise to a typical craniofacial appearance, the fetal valproate syndrome. Congenital heart malformations in this syndrome have most commonly been ventricular septal defects. We report a child with familial craniosynostosis, and tetralogy of Fallot, following intrauterine exposure to valproic acid.

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Epidemiology and diagnosis of ventricular septal defect in Malta

Cardiology in the Young ◽

10.1017/s1047951100006831 ◽

1998 ◽

Vol 8 (3) ◽

pp. 329-336 ◽

Cited By ~ 12

Author(s):

Victor Grech

Keyword(s):

Ventricular Septal Defect ◽

Congenital Heart ◽

Septal Defect ◽

Significant Decline ◽

Small Island ◽

Ventricular Septal Defects ◽

Live Births ◽

True Prevalence ◽

Septal Defects ◽

Congenital Heart Malformations

AbstractMalta is a small island with minimal changes in its population, making it an ideal location for epidemiological and historical studies dealing with congenital heart malformations. Ventricular septal defect was studied retrospectively from 1930 to 1994. A sharp and significant decline in age at diagnosis was found, predating echocardiography. All defects are now diagnosed by echocardiography, which has resulted in an increased prevalence of this lesion as seen at birth, particularly of minor defects. The prevalence of ventricular septal defect from 1990 to 1994 was 3.85/1000 live births, with 3.O3/1OOO not needing surgery and 0.83/1000 requiring operative intervention. Half the defects closed spontaneously. The majority of ventricular septal defects overall, and those spontaneously closing, were muscular defects. The overall prevalence at birth was significantly higher than that reported in recent studies using similar methodologies, implying that the reported rate is more likely to be the true prevalence at birth of clinically detectable defects.

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Human fetal hearts with tetralogy of Fallot have altered fluid dynamics and forces

AJP Heart and Circulatory Physiology ◽

10.1152/ajpheart.00235.2018 ◽

2018 ◽

Vol 315 (6) ◽

pp. H1649-H1659 ◽

Cited By ~ 6

Author(s):

Hadi Wiputra ◽

Ching Kit Chen ◽

Elias Talbi ◽

Guat Ling Lim ◽

Sanah Merchant Soomar ◽

...

Keyword(s):

Blood Flow ◽

Tetralogy Of Fallot ◽

Congenital Heart ◽

Elevated Pressure ◽

Patient Specific ◽

Shear Stresses ◽

Additional Energy ◽

Congenital Heart Malformations ◽

Wall Shear ◽

Heart Malformations

Studies have suggested the effect of blood flow forces in pathogenesis and progression of some congenital heart malformations. It is therefore of interest to study the fluid mechanic environment of the malformed prenatal heart, such as the tetralogy of Fallot (TOF), especially when little is known about fetal TOF. In this study, we performed patient-specific ultrasound-based flow simulations of three TOF and seven normal human fetal hearts. TOF right ventricles (RVs) had smaller end-diastolic volumes (EDVs) but similar stroke volumes (SVs), whereas TOF left ventricles (LVs) had similar EDVs but slightly increased SVs compared with normal ventricles. Simulations showed that TOF ventricles had elevated systolic intraventricular pressure gradient (IVPG) and required additional energy for ejection but IVPG elevations were considered to be mild relative to arterial pressure. TOF RVs and LVs had similar pressures because of equalization via ventricular septal defect (VSD). Furthermore, relative to normal, TOF RVs had increased diastolic wall shear stresses (WSS) but TOF LVs were not. This was caused by high tricuspid inflow that exceeded RV SV, leading to right-to-left shunting and chaotic flow with enhanced vorticity interaction with the wall to elevate WSS. Two of the three TOF RVs but none of the LVs had increased thickness. As pressure elevations were mild, we hypothesized that pressure and WSS elevation could play a role in the RV thickening, among other causative factors. Finally, the endocardium surrounding the VSD consistently experienced high WSS because of RV-to-LV flow shunt and high flow rate through the over-riding aorta. NEW & NOTEWORTHY Blood flow forces are thought to cause congenital heart malformations and influence disease progression. We performed novel investigations of intracardiac fluid mechanics of tetralogy of Fallot (TOF) human fetal hearts and found essential differences from normal hearts. The TOF right ventricle (RV) and left ventricle had similar and elevated pressure but only the TOF RV had elevated wall shear stress because of elevated tricuspid inflow, and this may contribute to the observed RV thickening. TOF hearts also expended more energy for ejection.

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Congenital Heart Disease

10.2310/7900.1032 ◽

2012 ◽

Author(s):

Susan E. Haynes ◽

Heather L. Bartlett ◽

Larry T. Mahoney ◽

David J Skorton

Keyword(s):

Tetralogy Of Fallot ◽

Congenital Heart ◽

Pulmonary Valve ◽

Superior Vena ◽

Vena Cava ◽

Ventricular Septal Defects ◽

Left Superior Vena Cava ◽

Ebstein Anomaly ◽

Persistent Left Superior Vena ◽

Septal Defects

Congenital diseases of the heart and vasculature are the most common birth defects, occurring in approximately eight per 1,000 live births. Some patients with congenital heart defects (CHDs) have a high quality of life for many years due to progress in medical and surgical management made in recent decades. This relatively high incidence, coupled with improved management, has resulted in a large adult population of patients with congenital heart disease. This chapter reviews the CHDs most likely to be encountered in adult patients, including atrial septal defects, atrioventricular septal defects, ventricular septal defects, patent ductus arteriosus, bicuspid aortic valve, pulmonic stenosis, coarctation of the aorta, persistent left superior vena cava, tetralogy of Fallot, dextro-transposition of the great arteries, the univentricular heart, Ebstein anomaly of the tricuspid valve, and Eisenmenger syndrome. Also discussed are women’s health issues, such as contraception, risk of pregnancy to the mother with CHD and risk to their offspring. Tables list recommendations for pulmonary valve replacement in repaired tetralogy of Fallot, conditions in which pregnancy risk is contraindicated, and cardiac indications for fetal echocardiography. Figures include illustrations of atrial septal defects, the atrioventricular septum, ventricular septal defects, systemic artery–to–pulmonary artery shunts, and stages in the repair of functional single ventricles; an angiogram of a persistent left superior vena cava; and computed tomographic images of atrial switch palliation of transposition of the great arteries and multiple baffle obstructions, a magnetic resonance image of a repaired tetralogy of Fallot and long-standing pulmonary valve insufficiency, and echocardiograms of a patient with Ebstein anomaly. This review contains 9 highly rendered figures, 3 tables, and 44 references.

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Diagnosis and treatment of adults with congenital heart disease

Future Cardiology ◽

10.2217/fca-2019-0061 ◽

2020 ◽

Vol 16 (4) ◽

pp. 317-342 ◽

Cited By ~ 1

Author(s):

Robert J Henning

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Tetralogy Of Fallot ◽

Congenital Heart ◽

Diagnosis And Treatment ◽

Ventricular Septal Defects ◽

Cerebral Vascular Disease ◽

Septal Defects ◽

Atrial Septal Defects ◽

Heart Lesions

Approximately 50 million adults worldwide have known congenital heart disease (CHD). Among the most common types of CHD defects in adults are atrial septal defects and ventricular septal defects followed by complex congenital heart lesions such as tetralogy of Fallot. Adults with CHDs are more likely to have hypertension, cerebral vascular disease, diabetes and chronic kidney disease than age-matched controls without CHD. Moreover, by the age of 50, adults with CHD are at a greater than 10% risk of experiencing cardiac dysrhythmias and approximately 4% experience sudden death. Consequently, adults with CHD require healthcare that is two- to four-times greater than adults without CHD. This paper discusses the diagnosis and treatment of adults with atrial septal defects, ventricular septal defects and tetralogy of Fallot.

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