Objectives. Overview of conotruncal defects. Key diagnostic ultrasound findings Delivery implications
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1 Conotruncal Defects Michael Cunningham, MD, FAAP, FACC Assistant Professor of Pediatrics Uniformed Services University Naval Medical Center Portsmouth Fetal Cardiology Symposium Richmond, Virginia May 18, 2018
2 Disclosures None The views expressed in this presentation are those of the author(s) and do not necessarily reflect the official policy or position of the Department of the Navy, Department of Defense, or the United States Government. I am a military service member. This work was prepared as part of my official duties. Title 17, USC, 105 provides that 'Copyright protection under this title is not available for any work of the U.S. Government.' Title 17, USC, 101 defines a U.S. Government work as a work prepared by a military service member or employee of the U.S. Government as part of that person's official duties.
3 Objectives Overview of conotruncal defects D-TGA Tetralogy of Fallot Truncus arteriosus Pulmonary atresia with VSD Key diagnostic ultrasound findings Delivery implications
4 Conotruncal Defects Broad array of defects D-transposition of the great arteries Tetralogy of Fallot Pulmonary atresia with ventricular septal defect Truncus arteriosus Double outlet right ventricle Approximately 20% of CHD pts with conotruncal abnormalities ~9% with 22q11 deletion Normal 4 chamber view 70% of the time Galindo, et. al. Eur J Obstet Gynecol Reprod Bio, 2009 Gotsch, et. al. J Matern Neonatal Med, 2010
5 Conotruncal Defects Accurate fetal diagnosis increasing over time Previously 77%, now nearing 90% accuracy TOF, D-TGA, and DORV over 90% accurate Inadequate views of the ventricular septum, distal arch, and/or RVOTO severity account for most errors Accuracy rates for Truncus Arteriosus and pulmonary atresia with VSD much lower Branch pulmonary arteries the main source of error Tometzki, et. al. JACC, 1999 Galindo, et. al. Eur J Obstet Gynecol Reprod Bio, 2009
6 D-Transposition of the Great Arteries Parallel great vessels with ventriculoarterial discordance D-malposed aorta anterior/rightward D-looped ventricle 5 7% of cardiac malformations 3 cases per 10,000 live births 2:1 male predominance No aneuploidy risk 22q11 deletion < 1% Jouannic, et. al. Circulation, 2004 Donofrio, et. al. Circulation, 2014, 2014 Abuhamad and Chaoui. Practical Guide to Fetal Echo, 2010
7 D-TGA Mortality Neonatal mortality ~ 4% in admitted neonates Surgical mortality as low as 2% Improved prognosis with fetal diagnosis Inadequate interatrial mixing from a restrictive atrial septum Jouannic, et. al. Circulation, 2004 Sanapo, et. al. Echocardiography, 2017, 2014
8 Rudolph text, 2009 Punn and Silverman. JASE, 2011 Talemal and Donofrio. J Neonatal Perinatal Med
9 Rudolph text, 2009 Punn and Silverman. JASE, 2011 Talemal and Donofrio. J Neonatal Perinatal Med
10 D-TGA Fetal Evaluation Often normal 4-chamber view Hallmark of parallel great vessels with ventriculoarterial discordance Ventricular septal defects (40%) and pulmonary stenosis (30% of cases with VSD) most common associated cardiac findings Fetal predictors for delivery room compromise from a restrictive atrial septum Foramen ovale Ductus arteriosus Pulmonary veins Sanapo, et. al. Echocardiography, 2017, 2014 Abuhamad and Chaoui. Practical Guide to Fetal Echo, 2010
11 Parallel Great Vessels
12 Foramen Ovale Hypermobile Septum primum oscillates between atria Redundant Primum septum herniates > 50% beyond the secundum septum plane Restrictive Small orifice with color flow aliasing Fixed Septum primum and secundum angle is < 30 degrees Flat No mobility of the atrial septum is noted. Intact atrial septum Lack of swinging septal motion or tethered septum Wilson, et. al. JASE, 1990, 2014 Chobot, et. al. JASE, 1990
13 Hypermobile, Flattened, Redundant, Fig. 1 and 2. Punn and Silverman. JASE, 2011 Fig. 1. Slodki et. al. Ultrasound Obs Gyn, 2017 (Flattened septum),
14 Hypermobile Septum
15 Ductus Arteriosus Predictors of a restrictive atrial septum Abnormal ductus and a restrictive foramen ovale Small ductus with moderate/severe restriction Reversed, bidirectional, or accelerated flow Sanapo, et. al. Echocardiography, 2017, 2014
16 Fig. 3. Punn and Silverman. JASE, 2011, Ductus Arteriosus
17 Reversed Diastolic DA Flow
18 Pulmonary Veins Pulmonary vein Doppler Proximal to the left atrium Max s wave velocity > 41 cm/s predictive of a restrictive atrial septum Sanapo, et. al. Echocardiography, 2017 Slodki et. al. Ultrasound Obs Gyn, 2017, 2014
19 Pulmonary Veins Fig.3. Slodki et. al. Ultrasound Obs Gyn, 2017, 2014
20 Predictive Values Foramen ovale and ductus arteriosus can be highly specific with good positive predictive values, but poor sensitivity to predict a neonatal emergency Specificity and sensitivity of a combination of FO and DA were 100% and 31% 1 PPV of 2 abnormal prenatal shunts for critical condition was 100%; NPV 92% 1 Hypermobile septum 2 Specificity and PPV 100% Sensitivity and NPV 64% and 71% Ductal diastolic flow reversal 2 Specificity of 92% and PPV of 89% Sensitivity and NPV were 57% and 65% Both hypermobile septum and ductal diastolic reversal 2 Specificity and PPV are 100% Sensitivity and NPV 36% and 57% Pulmonary vein assessment a promising adjunct 3 Velocity of 41 cm/s optimized specificity and PPV (100%) at only a slight expense of sensitivity (82%) and NPV (86%). 1 Jouannic, et. al. Circulation, Punn and Silverman. JASE, Slodki et. al. Ultrasound Obs Gyn, 2017
21 Tetralogy of Fallot Anterior malaligned ventricular septal defect Subpulmonary stenosis Overriding aorta RVH not typical for a fetus 1:3600 live births, 3 10% of all CHD VSD physiology vs. critical ductal dependence Severity of fetal RVOTO may progress Donofrio, et. al. Circulation, 2014 Arya, et. al. Ped Cardio, 2014 Abuhamad and Chaoui. Practical Guide to Fetal Echo, 2010
22 Tetralogy Fetal Evaluation Four-chamber view often normal Detected in the 5-chamber view Large aortic root, especially in 3 rd trimester DDx: DORV, TOF-APV, truncus, PA-VSD Ductal Dependent Pulmonary Circulation Aorta to pulmonary flow in the ductus arteriosus Reversed orientation of the ductus arteriosus Pulmonary valve Z-score less than 3 after 16 weeks gestation
23 Tetralogy Semilunar Valves
24 Tetralogy of Fallot Cardiac anomalies PFO/ASD 83% Right arch 25% LSVC 11% AVC < 5% Coronaries < 5% Anomalous pulmonary vein < 1% Extracardiac malformations 22q11 deletion: 8 35% Higher with right arch, thymic hypoplasia, extracardiac anomalies, or polyhydramnios Aneuploidy risk: 7 39% Trisomies 21, 13, and 18 most commonly Nonspecific organ anomalies Abuhamad and Chaoui. Practical Guide to Fetal Echo, 2010
25 Tetralogy Antenatal Planning Delivery planning/neonatal management Variable physiology Identifying ductal dependence helps with delivery planning Accurate antenatal delivery planning improves immediate hemodynamic stability and longterm outcomes Arya, et. al. Ped Cardio, 2014
26 Ductal Dependent Predictors PV Z-score < -3 after 16 weeks gestation Fetal Z-scores at mid- 1 and later gestation (29-32 weeks) 2 correlates with post-natal Z-scores Fetal PV size is predictive of type of surgery and reintervention 1 PV Z-score of -5: 78 % sensitive, 87 % specific 3 PV Z-score of -3: 100 % sensitive, 34 % specific 3 Reversed DA flow: 100 % sensitive, 97 % specific 4 1 Friedman, et. al. Congenit Heart Dis, Hirji, et. al. Can J Cardiol, Quartermain, et. al. Ultrasound Ob Gyn, Donofrio, et. al. JASE, 2015
27 Ductal Dependent Predictors Table 4. Quartermain, et. al. Ultrasound Ob Gyn, 2013
28 Fig. 1. Sanapo, et. al. Echocardiography, 2017, 2014
29 The Single Outflow Tract Pulmonary atresia with VSD Truncus arteriosus Aortic atresia with VSD
30 Epidemiology Pulmonary atresia with VSD ~10/100,000 live births; ~2% of all CHD; ~20% of TOF Right arch in 20-50% Absent ductus in ~50% 22q11 deletion in 20%, trisomies in 8-9% Truncus arteriosus 1/100,000 Failure of truncal swelling fusion process Differing classification systems 22q11 deletion in 30-40%; trisomies in ~5% Right arch in up to 36%, up to 15% interrupted Nonspecific extracardiac malformations common Abuhamad and Chaoui. Practical Guide to Fetal Echo, 2010
31
32 Distinguishing Features Arterial trunk valve characteristics Atretic pulmonary valve Common pulmonary trunk and branches Patent ductus arteriosus Major aortopulmonary collateral arteries Delivery planning and postnatal management dependent upon pulmonary blood flow
33 Fig 1a,b; 2b,d,f- Traisrisilp, et. al. Ultrasound Obs Gynecol,2015
34 PA-VSD Retrograde DA
35 MAPCA
36 Truncus
37 Truncus
38 Diagnostic Accuracy Reported range 77-96% Gómez, et. al. Fetal Diagnosis & Therapy, 2015 Prenatal echo accuracy 80.6% (25/31 cases) Truncus 80% (8/10) and PA-VSD 85% (17/20) Missed 7 cases 2 type I Truncus were PA-VSD with a ductal arch 2 PA-VSD with ductal arch were actually type I truncus 1 PA-VSD with ductal arch was still PA-VSD, but was a mixed supply of PBF 1 truncus type 3 was actually mixed PBF supply of PA-VSD 1 truncus type 2 was actually a complex CHD with aortic atresia, VSD, descendent aortic hypoplasia with MAPCAs and an aberrant right SCA Truncal insufficiency present in only 20% of TA cases
39 Table 2-Traisrisilp, et. al. Ultrasound Obs Gynecol,2015
40 Common Trunk Challenges Pulmonary artery identification Focus on differential clues Semilunar valve Stenosis, insufficiency, cusps Presence of atretic pulmonary valve? Ductal presence and color Doppler flow pattern Major aorto-pulmonary collateral vessels Volpe, et. al. Heart, 2003 Vesel, et. al. Heart, 2006
41 Conclusions Conotruncal defects diagnosed prenatally with high degree of accuracy Defect specific findings assist with postnatal prognosis and delivery planning
42 Acknowledgements Peter N. Dean, MD University of Virginia Tracy M. Alderson, MD Naval Medical Center Portsmouth
43 Questions?
44 References Donofrio MT, Moon-Grady AJ, Hornberger LK, Copel J a., Sklansky MS, Abuhamad A, et al. Diagnosis and treatment of fetal cardiac disease: A scientific statement from the american heart association. Circulation 2014;129: doi: /01.cir d. Gómez O, Soveral I, Bennasar M, Crispi F, Masoller N, Marimon E, et al. Accuracy of Fetal Echocardiography in the Differential Diagnosis between Truncus Arteriosus and Pulmonary Atresia with Ventricular Septal Defect. Fetal Diagn Ther doi: / Tometzki AJP, Suda K, Kohl T, Kovalchin JP, Silverman NH. Accuracy of prenatal echocardiographic diagnosis and prognosis of fetuses with conotruncal anomalies. J Am Coll Cardiol 1999;33: doi: /s (99) Slodki M, Axt-Fliedner R, Zych-Krekora K, Wolter A, Kawecki A, Enzensberge C, et al. A new method to predict the need for a Rashkind procedure in fetuses with dextro-transposition of the great arteries. Ultrasound Obs Gynecol doi: /uog Talemal L, Donofrio MT. Hemodynamic consequences of a restrictive ductus arteriosus and foramen ovale in fetal transposition of the great arteries. J Neonatal Perinatal Med 2016;9: doi: /npm Rudolph, A. Congenital Diseases of the Heart: Clinical-Physiological Considerations, Third Edition.Wiley-Blackwell, San Francisco, Abuhamad, A and Chaoui R. A Practical Guide to Fetal Echocardiography, 2 nd Edition. Lippincott, Philadelphia, 2010.
45 References Jouannic JM, Gavard L, Fermont L, Le Bidois J, Parat S, Vouhé PR, et al. Sensitivity and specificity of prenatal features of physiological shunts to predict neonatal clinical status in transposition of the great arteries. Circulation 2004;110: doi: /01.cir cf. Donofrio MT, Skurow-Todd K, Berger JT, McCarter R, Fulgium A, Krishnan A, et al. Risk-stratified postnatal care of newborns with congenital heart disease determined by fetal echocardiography. J Am Soc Echocardiogr 2015;28: doi: /j.echo Vesel S, Rollings S, Jones A, Callaghan N, Simpson J, Sharland G. Prenatally diagnosed pulmonary atresia with ventricular septal defect: Echocardiography, genetics, associated anomalies and outcome. Heart 2006;92: doi: /hrt Quartermain MD, Glatz AC, Goldberg DJ, Cohen MS, Elias MD, Tian Z, et al. Pulmonary outflow tract obstruction in fetuses with complex congenital heart disease: Predicting the need for neonatal intervention. Ultrasound Obstet Gynecol 2013;41: doi: /uog Traisrisilp K, Tongprasert F, Srisupundit K, Luewan S, Sukpan K, Tongsong T. Prenatal differentiation between truncus arteriosus (Types II and III) and pulmonary atresia with ventricular septal defect. Ultrasound Obs Gynecol 2015;46: doi: /uog Gotsch F, Romero R, Espinoza J, Kusanovic JP, Erez O, Hassan S, et al. Prenatal diagnosis of truncus arteriosus using multiplanar display in 4D ultrasonography. J Matern Neonatal Med 2010;23: doi: / Wilson AD, Rao PS, Aeschlimann S. Normal fetal foramen flap and transatrial Doppler velocity pattern. J Am Soc Echocardiogr 1990;3:491-4.
46 References Friedman K, Balasubramanian S, Tworetzky W. Midgestation fetal pulmonary annulus size is predictive of outcome in tetralogy of fallot. Congenit Heart Dis 2014;9: doi: /chd Hirji A, Bernasconi A, McCrindle BW, Dunn E, Gurofsky R, Manlhiot C, et al. Outcomes of prenatally diagnosed tetralogy of Fallot: Implications for valve-sparing repair versus transannular patch. Can J Cardiol 2010;26:e1 6. doi: /s x(10) Sanapo L, Pruetz JD, Słodki M, Goens MB, Moon-Grady AJ, Donofrio MT. Fetal echocardiography for planning perinatal and delivery room care of neonates with congenital heart disease. Echocardiography 2017;34: doi: /echo Arya B, Levasseur SM, Woldu K, Glickstein JS, Andrews HF, Williams IA. Fetal echocardiographic measurements and the need for neonatal surgical intervention in tetralogy of Fallot. Pediatr Cardiol 2014;35: doi: /s Galindo A, Mendoza A, Arbues J, Grañeras A, Escribano D, Nieto O. Conotruncal anomalies in fetal life: Accuracy of diagnosis, associated defects and outcome. Eur J Obstet Gynecol Reprod Biol 2009;146: doi: /j.ejogrb Punn R, Silverman NH. Fetal predictors of urgent balloon atrial septostomy in neonates with complete transposition. J Am Soc Echocardiogr 2011;24: doi: /j.echo Chobot V, Hornberger LK, Hagen-Ansert S, Sahn DJ. Prenatal detection of restrictive foramen ovale. J Am Soc Echocardiogr 1990;3:15-9.
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