Tetralogy of Fallot (M/A)

Tetralogy of Fallot (MA43)

= large malaligned VSD + overriding Ao over IVS + RVOTO + RVH

-Spectrum of TOF: PA+VSD, TOF with absent pulmonary valve (APV)

-but both have signif anatomic/physiologic diffs fr TOF w isolated PS

-Sx range fr acyanotic to very cyanotic- fr sev PS, PA hypoplasia, w R-->L at VSD

-TOF = #1 cyanotic CHD, and today has good outcome w repair

History:

-1672- Niels Stensen is the first to describe it ("monology of Stensen")

-1888- Fallot correlates pathology to clinical Sx, termed la maladie bleue

-1945- Alfred Blalock, Vivien Thomas, & Helen Taussig create first AP shunt for palliation of a TOF pt

-1950s- Lillihei able to do intracardiac repair, using controlled cross circulation in a TOF pt

Epi:

-most common cyanotic CHD

-Prevalence

-Prevalence data varies bc diff study design, definition, echo use, and if they included TOF-PS alone vs TOF-APV too.

-Ranges fr 0.26-0.48/1000 live births

-TOF is 3-9% of all CHD

-in 1980s BWIS study, TOF was 80% TOF-PS, 20% TOF-PA

-Recurrence Risk

-studies vary, as above

-likely varies much d/o specific genetic/environmental contributions

-sibling risk - 2.5% if 1 sib affected, 8% if >1 sib affected

-offspring risk - 1.2-8% range - 1.4% if + in dad, 2.6% if + in mom (? if truly a diff, conflicting studies)

-Environmental Factors

-maternal DM, retinoic acids, maternal PKU, trimethadione --> incr risk

-IDM pt has incr risk of all conotruncal xx

-retinoic acids at 1st trimester--> incr risk craniofacial, cardiovascular, CNS defects

-if PKU mom w/o dietary phenylalanine ctrl --> incr risk

Genetics:

-likely heterogeneous...

-evidence of dominant w reduced penetrance, recessive, etc

Genetic Syndromes

-12% of TOF-PS had chromosomal xx - tri21, 18, 13

-7% of TOF-PS were syndromic

-2% had other multiple anomalies

-11% had another single anomaly

-==> 68% of pts had no other xx

-BUT the study (BWIS) was before 22q11del screening was available

-New study- likely 1/3 pts syndromic...

-espec common w DiGeorge/VCFS, Down, Alagille, cat's eye syndrome, recombinant chrom 8, Kabuki, CHARGE, VATER/VACTERL

-Digeorge/Velocardiofacial Syndrome

-DiGeorge- thymus aplasia/hypoplasia, parathyroid aplasia/hypoplasia, conotruncal defects

-p/w infant w hypOCa, imm defic, abNl facies, CHD

-2/3 have Interrupted Ao Arch type B, Truncus, or TOF

-90% of DiGeorge is bc of 22q11del

-VCFS- related syndrome, w same 22q11del--> abNl facies, palate xx, learning/speech xx, CHD

-Thus 22q11del, aka CATCH22, is variable, with:

-CHD, abNl facies/palate, thymus/prathyroid xx, hypoCa, renal xx, psych xx

-Sx can be subtle initially, so it can be missed. e.g. parent w hypernasal speech or LD

-Alagille Syndrome

-auto dom (Jagged1 gene xx)

-bile duct paucity + cardiac disease + skeletal & ocular xx + abNl facies

--> PPS most common, but other R sided lesions also seen, w 10-15% +TOF

-Very variable expression, some pts just have the CHD

-Nonsyndromic Genetic Causes

-Nkx2.5 transcription factor seen in a few families w ASD and conduction delay w 2 pts in 1 fam w TOF instead of ASD

-Developmental Considerations

-Development of the Conotruncus requires proper septation and alignment of the pulmonary outflow tract & the Ao outflow tract.

-the outflow tracts come from the distal bulbus cordis and the GA's from the truncus arteriosus

-The point between the BC and the TA is the future level of the semilunar valves, which form from the growth & fusion of the truncal-bulbar cushions.

-Per MA discussion: Conotruncus = BC+TA

-Conotruncus is initially situated rightward, over the embryologic RV

-This --> rotates, septates, and w differential cell growth/death--> align the outlet septum w the ventricular trabecular septum. Then the membranous septum closes off the gap between the two

--> proper posterior alignment of the LVOT with the LV, which --> Ao-mitral continuity

--> RVOT aligns with RV, but unlike the LVOT, the RVOT retains its muscular properties in the form of the subpulmonic infundibulum, aka conus.

-TOF (?) is bc the conotruncus did not completely rotate and septate properly. Usually, it occurs w spatial growth and rotation of the truncal-bulbar ridges. If these are malrotated, --> malalign the RVOT and trabec septum, --> Ao straddles the malaligned VSD. & --> subpulmonic obstruction bc of teh anterior septation of conotruncus by the bulbotruncal ridges.

-Alt cause (?) (Van Praagh): hypoplasia and underdvpd pulmonary infundibulum --> infundib obstruction and malalignment of the outlet septum. However morph. studies have shown the subpulm infundib to be normal

Anatomy:

-The major item that makes it TOF is the subpulmonic stenosis due to deviation of the outlet (conal) septum

-All TOF pts have ant & cephalad deviation of the outlet septum.

--> VSD & overriding Ao with subPS

-In ~all pts, the VSD is large/unrestrictive, so --> RVH bc of RV htn

Pulmonary Stenosis

-subPS--> obstruction--> Nl/decr PAP.

-w TOF w PS, most pt's have big enough PA's for surgical repair, though there may be distal obstruction of the RVOT in the pulm valve apparatus, supravalvar PS, and the proximal or distal art bed.

-if PA+VSD (the extreme TOF), the PA's may be hypoplastic/absent

--> Qp via embryologic AP collats,

Subpulmonic (Infundibular) Obstruction

<-- ant/cephalad outlet (infundib) septum deviation

--> muscular subvalvar narrowing, which is worsened by the RVH, esp at RV free wall and parts of the septomarginal trabeculations.

-Usually, the outlet septum is within the limbs of the septomarginal trabeculations, and aligned w the trabecular septum that partitions the ventricles.

-The transition zone bn outlet and trabecular septum is usually closed by the mesenychmal tissue, that --> the area of perimembranous septum

-When the outlet septum deviates, it both creates the muscular obstruction, and also creates the large perimembranous VSD bc the outlet now is malaligned with the trabecular septum.

-RV obstruction--> RVH of septoparietal muscle bundles, that extends into RV free wall muscle

-Moderator band attachment is displaced--> more intracavitary obstruction proximal to the infundib, aka anomalous RV muscle bundles, aka double chambered RV.

-The intracavitary obstruction can dvp even postop (3% pts)

Pulmonary Valvar & Arterial Anatomy

-PV may be small/stenotic, bicuspid or unicupsid, or have a discrete obstruction where leaflets insert

-PA's may have focal or diffuse obst/hypoplasia

-Branch PA obstruction is common (prox & distal)

-If a PA doesn't have any antegrade pulmonary output, then the true PAs will often be absent/sev hypoplastic. Here, Qp is via AP collaterals (uncommon w simple TOF)

-PA's may have narrowing/atresia of the branches (L>R), esp if pt has pulm vlv atresia

-Can occur postnatally as DA closes and distorts the insertion site

-pulmonary stenosis at fetal life initially can dvp to pulm atresia subsequently, so beware when pt is initially born despite the fetal echo findings....

VSD

-due to ant-cephalad deviation of outlet septum; located in subarterial region

-fibrous continuity bn TV and AoV (usually) --> thus = a true perimembranous defect

-some have a rim of muscular tissue along the post/inf rim of the defect--> TV-AoV discontinuity

-+/- other VSDs sometimes

-inlet extension of the subarterial VSD

-complete AV septal defect

-large, unrestrictive by definition, tough in a few pts it may be restrictive

-but if restrictive, it's bc of accessory/redundant TV tissue, which attaches to the ventricular septal crest, or prolapses into the VSD--> obstruct the VSD

-Pts w supracristal VSD + valvar PS or midcavitary subPS lack the ant deviation of the conal septum, (so ?not true TOF) but they physiolology have same outcome

Aortic Override

-The Ao Override DDx's TOF and DORV

-DORV = absent Ao-Mitral continuity (morphologic definition) (hint: DORV = Ao left mitral to go to RV)

-This requires both a subaortic and a subpulmonic muscular conus.

-This avoids the question of whether the Ao is >50% committed to the RV (more subjective)

-This makes TOF and DORV mutually exclusive, (there is (TOF) or isn't (DORV) Ao-Mitral continuity)

-Nly, the R Ao sinus does overlie the Nl plane of the ventricular septum. So, w VSD there is some straddling of the Ao over the defect (even w/o TOF).

-w TOF, the override is accentuated bc the VSD is malaligned.

-The Ao is also dialted (bc malseptation of the conotruncus) --> Ao looks commited to both ventricles.

-Ao position is also rotated some, w R Ao sinus more twd left/ant than usual

Associated Anatomic Features

-Coronary Arteries-

-If LAD comes of RCA q an anterior course across the RVOT (5% of TOF)--> hard to surgically relieve the infundibular obstruction; may also run inter-arterially

-May require a diff surgical approach or an RV-PA conduit

-Different coronary anatomy might be missed at surgery, or may promote plan to postpone surgery or choose a palliative procedure to allow for somatic growth before full repair

-Large conal branch (first branch off the RCA) - may also require a conduit to spare incising it

-Accessory LAD artery

-Single origin of coronary artery - 2nd most common coronary

-small coronary art - PA fistula

-Echo preop must show coronary anatomy, esp proximal anatomy

-origin and branching of main coronaries

-Aortic Arch Anomalies

-R Ao Arch in 1/4 TOF pts

-+/- assoc aberrant ipsilateral subclavian art origin fr Desc Ao in some pts w a L or R Ao Arch

(note that if in OR w TEE probe in, if the a-line is in the artery running to that subclavian, the TEE will compress the retro-esoph aberrant subclavian--> false sense of hypotension, but in fact it isn't the case...; so if present, anesthesiologist should prep w a femoral a-line, not radial)

-(rare) ipsilat L subclav art origin fr PA

-R Ao arch or L Ao arch with abNl branching pattern seen more if +22q11del

-AP Collaterals

-AortoPulm Collats- seen in pts w TOF+isolated PS but not as common as TOF+pulm atresia

-Associated Cardiac Abnormalities

-PFO in 83% of TOF

-LSVC in 11% of TOF

-LSVC directly to LA seen in some pts w unroofed coronary sinus or via a direction connection

-TAPVR/PAPVR in a few pts

-Ebstein anomaly ina few pts

-TOF + AVSD seen w tri21

-combines a deviated outlet septum w PM & inlet VSD with an AV valve morphology

-Rarely does TOF pt have left hrt xx

Pathophysiology:

-Some very cyanotic bc sigif R-->L, while others pink w net L-->R

-RV htn + Nl/low PAP seen

-low distal PAP's seen if pulmonary art obstruction, but PAP at distal vasc bed usually Nl

-Qp and Qs balance d/o relative resistances...

-Bc LV and RV have = P, the RVH is in proportion to the LV mass

-if restrictive VSD (rare), then RVP may be suprasystemic, w sev RVH

-Qp is relatively fixed bc of the RVOTO, but it is variable in each pt to some extent

-Reflects diff Qp:Qs w changes in SVR (determined at arteriolar level)

-Exercise--> decr SVR--> incr R-->L --> decr SaO2

-Hypercyanotic Episodes = sudden decr SaO2 <-- acute incr infundib obstruct'n w decr Qp

Sx/Si:

-Widely varied presentation, d/o severity

-Commonly dx'd as fetus

-Newborn- systolic murmur, cyanosis

-if critical RVOTO--> only mild cyanosis until DA closes then sudden decr Qp

-Some have only mild septal deviation or very little septum to cause ROVOTO--> acyanotic w L-->R, and get Sx of mild pulm overcirculation, but no CHF sx unless large PDA/AP collats.

-Hypercyanotic Episodes and Squatting ("Tet Spells")

-severe, +/-prolonged, decr SaO2

-can also occur w other CHD that allows for an abrupt change in Qp:Qs w acute incr R-->L

-Common before we had surgical repair for TOF

-If pt has any Tet Spells--> indication to go to OR soon, as they are life threatening

-Due to changes in amt of subPS (?) - w decr murmur during the spell, bc of changes in contractility bc of endog NE/E or bc of hypOvolemia.

-Tet Spells do occur w pt w PA+VSD, so it's poss due to a diff mech, e.g. decr SVR

-Sx = Decr SaO2 + hyperpnea (2y to acute hypoxia + met acidosis (?))

-prolonged--> tired/dead

-Tx = Increase Qp via incr SVR and decr SubPS (see below)

-Pts would squat during spell naturally, in knee-to-chest position after exercise, bc incr SVR via compressing femoral vessels

Exam

-+/-cyanosis

-clubbed nails if longstanding cyanosis

-hyperactive precordial RV impulse (can be Nl in newborn till PVR drops)

-Nl precordial LV impulse bc Ao wide open, unless acyanotic pt w incr L-->R bc of LV volume load

-Single S2 in ~all pts; loud S2 bc of an anterior, dextroposed Ao

- +/- sometimes an S2 split if only mild infundibular stenosis w ~Nl pulm vlv/annulus

-S3 & S4 are uncommon

-Nl arterial pulses usually

-Wide PP if diastolic runnoff from AP collaterals, or a shunt placed, or PDA

-Systolic murmur @ LUSB, a bit more inf than w valvar PS

-cresc-decresc or plateau

-harsh

-intensity d/o amt of PS - loud w mild PS

-also d/o VSD size- no VSD murmur bc it's unrestrictive, but it does allow for R-->L w signif PS, decreasing the PS murmur

(DDx w PS+IVS, then all RV CO must go thru the pulm vlv so murmur incr w obst)

-Decr murmur w cyanotic spells bc decr Qp via PA

-Diast murmur are NOT common pre-op, but may hear a high-pitched diast murmur fr AI, +/- ejection click (mainly older pt)

-Harsh diast murmur in a pt w a harsh PS sys murmur--> c/s TOF+APV Syndrome

-Continuous murmur in TOF pt- PDA or AP collaterals (hear best at back)

-Postop Exam

-+/-PR, which can incr RV volume load--> abNl RV impulse (lift) at LLSB

-S2 single bc only hear Ao closure

-Diast low freq decresc PR murmur

-Systolic cresc-decresc murmur if resid PS, usually soft & short bc minimal obstruction

-Residual VSD would --> holosyst murmur if RV P is low

-TR is rarely heard unless incr RV P

Dx:

ECG

-RVH, seen after 3mo bc the Nl RVH should have resolved by now

-precordial anterior forces = dominant V1 R and V6 S

-T waves in V4R and V1 upright or inverted

-Frontal Plane axis > Rightward than Nl

-AbNl superior vector in frontal plane if pt also has an AVSD

-Arrythmias are uncommon pre-op, but pt may get conduction xx (RBBB) and arrhythmias both early/late post-op

-Older pt w untreated TOF - ventricular ectopy bc of long term RV htn, myocardial fibrosis

CXR

-Nl heart size, but L heart border is more concave bc of infundib and pulm art hypoplasia

-upturned cardiac apex

--> boot shaped heart (aka coeur en sabot)

-Decr pulm vascularity in pts w bad cyanosis bc decr Qp (see pic)

-R Ao Arch in 1/4 pts

Echo:

-PSLA

-Large VSD + overriding GA (Ao, but can't confirm fr this view alone - could be truncus, TOF-PA)

[ ] must check for other VSDs, might not see much flow across bc of similar Ps in ea ventricle.

-Check degree of Ao override, if >50% c/s DORV & check if there is a bilateral conus

-Check for Ao-Mitral continuity (=TOF)

-Check for dilated CS, c/s LSVC

-Check Desc Ao in cross section post to the AV groove, if you can't see it, c/s R Ao Arch

-Doppler the VSD- confirm low pk velocity, mainly R-->L

-Check TR (usually insignif even w RV htn)

-Tilt cranially and check RV infundibulum and the prox PA's

-Check degree of infundib, valvar, PA hypoplasia

-PSSA

-At base, Check infundib and prox PA's

-hard to see RVOT and prox PA's well if sev infundib/annular/art hyopoplasia

-Ensure you DDx pulm annulus & PA's from the LA appendage which is just inf to it

-Check for Antegrade Qp at PA

-amt of PS can be underestimated initially in newborn bc incr PVR and +PDA

-Check PDA Q into LPA

-If you see retrograde Q in a diff location, c/s a R PDA or AP collateral

-Check VSD - just below R Ao cusp or at 10 o'clock

-Check for Tricuspid-Aortic continuity = +perimembranous defect

-If the infundibular septum is absent, then the defect will extend around twd the pulm annulus

-Check coronaries - Any vessel take an anterior course across the infundibulum (Sn 82%, Sp 99%)

-AP4C

-See perimembranous VSD & relation to TV and AoVlv

-Scan post'ly to check for inlet extension of the VSD.

-Subcostal

-Check relative Ao and IVC positions

-Angle ant'ly for 4 chamber view, and sweep post to ant

-Check for ASD

-Check RV and infundibulum

-Tilt in ant-post --> see SubAo and SubPulm regions - confirm the absence of suAo conus.

-Rotate 90 degrees clockwise, and sweep R to L --> see orthogonal view

-See RVOT and the ant-cephalad deviation of RVOT septum

-High Parasternal/Suprasternal

-PA's @ high parasternal, Ao in suprasternal

-Check PA size, continuity

-Check for other Qp sources

-Check Ao sidedness

-Check brachiocephalic artery to ensure Nl branching pattern

-Check RPA in cross section within the Ao arch, a good place to measure its size

-Check for retroaortic innominate vein if you see another vessel nearby (confirm its vn w doppler)

-Check for collaterals at prox Desc Ao

CT/Cardiac MRI:

-for PA and coronary anatmy, postop RV Fx, myocardial scarring, PR fraction

Cath:

-Usually done to better assess anatomy of PA's/coronaries

-Fick for degree of ventricular shunting

-Low/Nl PA P, if hight c/s diffuse distal art stenosis

-Angios:

-RV angiogram w AP & Lat cranially angulated projections --> see infundib and PA's

-RAO--> check RVOTO and septal deviation

-Long Axis oblique--> LV fx and VSD's

-RV injection- check PA anatomy

-some risk of --> cyanotic spell, so sedate well

-check coronary anatomy

-check for AP collaterals

Tx:

-Goal: relieve RVOTO + close VSD

-Usually treat early as it has become safer, and you can avoid xx of long term cyanosis, palliation Tx, and risk of abscess or stroke

-long term RVH may --> permanent myocardial changes- fibrosis--> change sys/diast fx

Rx-

-PGE at birth if the PS is critical, or close monitoring till PDA closes in you think it will be critical... (most are not ductal dependent)

-Teach parents about Tet Spells bc they are an emergency

-Tet Spell Tx:

-O2, volume expansion, sedation (morph/ketamine), +/- vasopressors (phenylephrine) to incr SVR

-If Rx fails, then stat surgery

-Some suggest propranlol to minimize Tet Spells

-Secondary Polycythemia may be signif--> HA

-Be concerned about HA, esp if +neuro deficit

-c/s cerebral hemorrhage, ischemia, abscess fr septic emboli

-Pt's with relative anemia/microcytic anemia (relative to their desaturation) are at incr risk for CVAs, Tet Spells

-check thier Fe level and replete pRN

Cath-

-to relieve pulmonary obstruction & to embolize accessory Qp sources

-Sometimes this may be better than a BTS bc BTS may distort the PA's. Delaying the surgery with a palliation assumes there is benefit to waiting...

-Coiling AP collaterals serves to decr LV vol overload, and eliminate runoff into the pulm art bed during bypass

-Postoperatively, some pts need balloon angioplasty or stenting for residual pulm obstruction, esp distal obstruction not accessible by surgeon

Surgery-

-BTS use has decreased bc we are doing a full repair sooner

-xx of BTS first: PA distortion, ventricular vol load, thoracotomy risk

-Pt's w sev PA hypoplasia and some w aberrant anterior coronary fr RCA should wait.

-Try to avoid a transannular patch to preserve pulm vlv fx

-Pt's need bypass, median sternotomy, but not usually deep hypothermia w circ arrest in infants

-For RVOT patch, pericardium is used or a synthetic patch

TOF Repair-

-1) Cool pt, cross clamp, cardioplegia

2) Vertical infundib and RV incision, and continue accross pulm annulus if it is too hypoplastic

-spare annulus if it's big enough

-Decision to use a transannular patch is subjective by surgeon, but if pre-op Z score is <-2 (?), pt is likely to have high post-op RV:LV P

-Extend incision to PA +/- branches if stenotic

-If placing a transannular patch, can make a monocusp pericardial valve to reduce PR but it might not really impact mortality, length of stay, post op hemodynamics

-Some propose a complete transAtrial repair so there's no ventriculotomy unless pt needs a transannular patch. You can remove the RVOTO this way, and better if there are coronary anomalies... 3) Resect any signif muscle bundles & infundib obstruction

4) Repair VSD- via ventricular or atrial approach, w a Dacron patch; either w continuosu or interrupted sutures w Teflon pledgets.

5) Ligate any signif AP collats & PDA

Palliative Procedures

-BTS and central shunts

-BTS is w a Gore-TEx, on the side opposite the Ao arch

-avg diam 3.5-4.5mm

-via median sternotomy (central shunt) or lateral thoracotomy

-Later, take it down intra-op or via cath lab w coil occlusion

-Waterston Shunts (Asc Ao to RPA) or Potts Shunts (Desc Ao to LPA) aren't used anymore bc --> PA distortion and inconsistent transmission of Q and P to pulm art bed.

Surgical Outcomes

-Survival is now great

-100% 1mo survival, though incr ICU morbidity if <3mo

-U Michigan - no deaths at 24mo post-op in pts w TOF-PS, but 1/4 needed reoperation (residual RVOTO/PA obstruction mainly in younger pts, resid VSD repair in older pts)

-Another study (MA ref 78) had good outcomes for both single early repair w transatrial approach and for 2 stage repair. No incr need for reoperation if the surgery was transatrial, or if <1yo at repair

-22yr survival was 98% for TOF-PA, slightly less if TOF-PA

Long Term Follow Up

-Unsure long term M&M bc of varied approach fr a while back..., there was initial early mortality and most didn't live beyond 20s, but now much different.

Sudden Death & Arrhythmias

-Early repair showed issues w this

-up to 5% of early cases had sudden death. ?bc of bifascicular block becoming complete AV block, or a transient postop complete AV block, or just VT. Currently complete AV Block is rare, w sudden death now 1.2% by 10yrs, 2.2 by 20 yrs, 6% by 30 yrs

-Who's at risk for sudden death/VT?

-More common in pt's older at time of surgery

-? increased PR and RV dilation at higher risk of VT

-? QRS >180ms or LV dysfx predictors of sudden death

-Meds like quinidine, propranolol, dilantin, amio dont seem to work

-pulm valve replacement may help

-? if biventric pacing will help, likely need an ICD for pt w sustained VT

-Atrial arrhythmias-SVT/a-fib/flutter has been documented in long term f/u (SVT in 10% at 12yrs postop)

Residual Defects & HD Abnormalities

-Branch PA stenosis

-distorted after shunts or fr compression bc of redundant RVOT patch

-Tx w balloon dilation/stent via cath

-PR

-esp if transannular patch or extensive valvotomy --> audible PR

.....

.....

Exercise Testing

-while good capacity in most, there is defic w rigorous exercise

Bacterial Endocarditis

-SBE ppx for cyanotic or palliated pts, or pts for 6mo post patch repair or pts w prosthetic vlv

Cognitive Outcome

-must acct for $ of TOF ptw w extracardiac anomalies, and the fact that some are hypoxic fo ryears pre-op...

-limited data--> these kids will need early school extra help...

CONGENITAL ABSENCE OF THE PULMONARY VALVE SYNDROME (TOF+APV)

-incompletely formed, rudimentary PV w both PS and PR + aneurysmally dilated PA's + large malalignment VSD

-pts ~always NO PDA

-most have airway abNlies--> sev resp failure

-rarely they have intact IVS

Epi:

-rare

-25% w 22q11del

Embryology:

-? etiology, ? maybe ductal closure --> pulmonary abNlies

-otherwise they look/act much like TOF

-conotruncal abnormalities and infundib obstruction is sually less sev/absent, and much of the PS is fr annular hypoplasia

Path/Anatomy:

-deformed, rudimentary valve tissue w/o clear/fxl leaflets

-malaligned VSD w RVH, bc of unrestrictive Q at VSD

-distal PA/alveoli abNl

-Nl segmental arterioles are replaced by tufts of vessels that compress the distal intrapulm bronchi

-decreased bronchial and alveolar number

-Coronary art anatomy varies

-some have MAPCAs

--> distal Qp, may require surgical/cath closure

Si/Sx:

-20% w hydrops bc of in utero PR

-Neonate w murmur, cyanosis, resp distress/failure

-abNl RV impulse, single S2, unusual murmur w harsh to and fro bc of PS, then diastolic PR murmur

-hepatomegaly bc of vol OD and RV htn

-ronchi or air trapping if airway/bronch xx

-Some ASx, mild cyanosis, no heart failure sx, others very bad...

Dx:

-ECG- RVH, wide QRS

-CXR- dilated PA's, distal attenuation of pulm vasculature

- cardiomegaly

-+/- R Ao Arch

-Echo- see stenotic/malformed pulm annulus, nonfx'ing/rudimentary pulm vlv leaflets, large VSD w some Ao override, huge prox PA's; RV dilation bc of the PR, no PDA

-check Ao Arch for MAPCAs

-Cath- only if need to check/Tx AP collaterals, but CT/MRI might be better...

Tx:

-Rx

-limited Tx, c/s ACEI until pt gets bigger...

-ECMO PRN...

-Surgery

-homograft - o

-Goal: indundibulotomy and transannular incision to relieve RVOTO, ant plication of teh PA to improve Q and minimize bronchial compression.

-Some advocate translocating MPA and RPA to a position ant to Ao, like an art switch for TGA, others think a homograft is best w excision of aneurysmal pulm arts through to the hilum...

-Others are more conservative- PA plication initially, then homograft later if RV failure or if resp issues persist/bad RV hemodynamics

-Generally poor Px regardless of surgical technique

Px:

-long term outcomes- progressive RV dilation bc of PR is a problem

-no good data on outcome bc it's rare..

-rhythm xx and sudden death linked to bad RV markers (RV size, QRS duration, RV fibrosis on MRI)