Pulmonary atresia with VSD Presenter: 吳承諭 Supervisor: 王玠能醫師 INTERN SEMINAR Pulmonary atresia with VSD Presenter: 吳承諭 Supervisor: 王玠能醫師

OUTLINE Case presentation Discussion Pulmonary atresia Prognosis

BASIC INFORMATION Name:陳O豪 Gender: male Patient ID:143xxxxxxx Date of Birth:2011/10/31 Age: 5 year old Height: 111.8cm Weight: 18.2kg

HOSPITAL COURSE Before birth GA 22wks, level II sonar  suspected tetralogy of Fallot No gestational diabetes mellitus. No preeclampsia or gestational hypertension

HOSPITAL COURSE Before birth Birth GA 39+3 week, NSD, Apgar score: 8->10,BBW: 3695 gm PE: SaO2: 85% under room air Lip: mild cyanosis Nail back: mild cyanosis Heart: RHB, continuous murmur grade 2/6 over LSB, S2 single

INITIAL CXR (2011/10/31)

INITIAL ECHO (2011/10/31) RV Aorta LV LA Parastenal long axis view Modified Parastenal short axis view 沒有看到PA 隱約看到LPA和RPA absent of RVOT Suprastenal arch view: No PDA, 疑似MACAP Imp: Pulmonary atresia with Ventricular Septal Defect RV

INITIAL CTA (2011/11/01) PAVSD. One MAPCA from left CCA to MPA. Short segmental confluence of RPA and LPA. Native RPA: 2.6mm near hilum. Native proxiaml LPA, markedly focal stenosis One short MAPCA (The upper one from descending thoarcic aorta) One MAPCA (The lower one from descending thoarcic aorta)

HOSPITAL COURSE Before birth Birth 2 month old acute cyanosis and dyspnea when feeding SaO2 down to 70% under O2 Arranged Cath Three MAPCAs

HOSPITAL COURSE Before birth Birth 2 month old 3 month old Modified Right Blalock–Taussig shunt , 5mm in this 5.4 kg baby After surgery: SaO2:79-80% less cyanosis was noted, cyanosis happened only during exertion.

HOSPITAL COURSE Before birth Birth 2 month old 3 month old Right side unifocalization

HOSPITAL COURSE 1 Y 7 M old Left side unifocalization

HOSPITAL COURSE 1 Y 7 M old 2 Y 8M old Due to follow up CTA showed LPA is small  Modified B-T shunt, left side

HOSPITAL COURSE 1 Y 7 M old 2 Y 8M old 3 Y 7 M old CTA showed bil. B-T shunt stenosis  balloon dilatation

HOSPITAL COURSE 1 Y 7 M old 2 Y 8M old 3 Y 7 M old 4 Y 8M old BW: 16.8kg Hybrid: Rastelli operation+stent Bilateral BT shunt transection, VSD repair, RV-PA continuity reconstruction with hand-made valved conduit PA angioplasty and stent implantation After surgery, SaO2 95 % Now adequate activity in his daily life !!!

DISSUSSION: Pulmonary atresia with VSD

EMBRYOLOGY OF HEART Pulmonary artery  originate from the truncus arteriosus and the sixth pharyngeal arch. Aortopulmonary collaterals originate from aorta dorsalis

ETIOLOGY and EPIDEMIOLOGY 2.5-3.4% of all congenital cardiac malformations Slighly more prevalent in males than in females Genetic factors: siblings and in offsprings of adults with tetralogy of Fallot DiGeorge syndrome (Del22q11) Trisomy 21

CLASSIFICATION Type A: Native PAs present, pulmonary vascular supply through PDA and no APCs.  Type B: Native PAs and APCs present  Type C: No native PAs, pulmonary blood supply through APCs only Aortopulmonary collaterals

CLINICAL PRESENTATION Central cyanosis S 1 is normal; S 2 is always single. A grade 3/6 systolic murmur usually is audible along the lower left sternal border If systemic-to-pulmonary collateral arteries are present, continuous murmurs may be diffusely audible over the entire chest and back. systolic murmur: TR

MANAGMENT Stanford 2009

DIAGNOSIS Echocardiography: characterize the intracardiac anatomy Cardiac catheterization: detailed roadmap of all sources of pulmonary blood flow identify the origins and contributions of all aortopulmonary (AP) collaterals

GOALS OF SURGICAL MANAGEMENT Complete Unifocalization: 3-6 months Intracardiac Repair: close VSD Mean pulmonary artery pressure < 25 mmhg RV/LV pressure ratio less than 0.5

PROGNOSIS PA/VSD TOF 10-year 60% 97% 20-year 50% 94% 30-year 53% 89% Overall survival rate PA/VSD TOF 10-year 60% 97% 20-year 50% 94% 30-year 53% 89% Long-term outcome after treatment of pulmonary atresia with ventricular septal defect: nationwide study of 109 patients born in 1970–2007, Anu K. Kaskinen et al European Journal of Cardio-Thoracic Surgery 49 (2016) Long-Term Survival in patients with repair of Tetralogy of Fallot: 36-Year follow-up of 490 survivors of the first year after surgical repair, Georg Nollert et al Journal of the American college of cardiology 1997

What Factors Effect Prognosis??

Higher McGoon index and more lung segments supplied by true pulmonary arteries increased: the probability of repair the survival of PA + VSD. Overall survival was no difference: PA/VSD v.s PA/VSD/MAPCAs PA/VSD/MAPCAs  higher risk of remaining palliated Of the palliated patient, with MAPCAs had better survival rate than without MAPCAs

J Thorac cardiovasc Surg. 2010 Nov

weighing more than 5 kg, regardless of their age Neonatal age and low body weight (3 kg) at unifocalization were significantly associated with mortality weighing more than 5 kg, regardless of their age

The annals of thoracic surgery, 2012 Nov

With genetic syndrome had lower 20-year survival than without syndrome(P<0.01) Del22q11 had higher 10-year survial rate than other genetic syndrome(P<0.06)

BACK TO OUR CASE  Prognosis not the best, but great This case is a boy Type B PA/VSD/MACPAs Received the first surgery at 5 kg No genetic syndrome  Prognosis not the best, but great

TAKE HOME MASSEGE Embryology of PA and MACAPS (truncus arteriosus + 6th pharyngeal arch vs aorta dorsalis ) PA with VSD and MACAPs clinical presentation Single S2(absent RVOT), systolic murmur(TR), continuous murmurs (MACAPs) Central cyanosis (right to left shunt) Prognosis: Native PA Unifocalization time Genetic syndrome

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