ABSTRACT
POSITION OF THE APEX: A) Levocardia (apex points to the left); B) Dextrocardia (apex points to the right); C) Mesocardia (apex in the middle) ATRIAL SITUS (solitus; inversus; ambiguus): according to the position of the atrial appendages, IVC (which drains into the RA) and visceral situs › Right atrial appendage morphology: large base, triangular shape, contains numerous pectinate muscles › Left atrial appendage morphology: narrow base, finger-shaped
AV CONNECTION: A) Concordance: morphological LA connected to morphological LV (and RA connected to RV); B) Discordance › Right ventricle morphology: moderator band, extensive trabeculations, infundibulum, tricuspid valve • Tricuspid valve: 3 leaflets - septal attachments - closer to apex than M valve - absence of distinct papillary muscles › Left ventricle morphology: fine trabeculations; mitral valve • Mitral valve: 2 leaflets - mitro-aortic continuity - 2 papillary muscles - less apical than the T valve
VENTRICULO-ARTERIAL CONNECTION: A) Concordance: Morphological LV connected to the aorta; morphological RV connected to the PA; B) Discordance; C) Double-outlet (> 50% of the aorta and PA arise from the same ventricle) › Aorta: “Candy cane”; 3 vessels (innominate artery, left carotid artery, left subclavian artery); always associated with its aortic valve › Pulmonary trunk: rapidly divides into RPA and LPA; always associated with its pulmonary valve
2. FORAMEN OVALE: allows blood derived from the IVC (part of which is derived from the placenta and is oxygenated) to go directly to the left heart (preferentially perfusing the coronary arteries and CNS)
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FEATURES: left parasternal heave; palpable dilated PA (2nd left intercostal space); fixed split S2; pulmonary ejection murmur (G flow); tricuspid diastolic rumble in the presence of significant shunt; TR murmur in the presence of right heart failure
ECG › Secundum ASD: Incomplete RBBB; right axis deviation; RAH; Notch on R wave in inferior leads › Primum ASD: RBBB; left axis deviation; RAH › Sinus venosus ASD: non-sinus rhythm (negative P wave in inferior leads)
CXR: RA-RV dilatation; G vascularization; prominent central PA TEE: evaluate pulmonary venous return; ASD dimensions; possibility of percutaneous closure; agitated-saline PRN (RAL shunt = contrast in left chambers; LAR shunt = negative contrast in right chambers)
COMPLICATIONS a) Right heart failure (± TR) (volume overload) b) Atrial arrhythmias: typical flutter; IART; AF; SSS after repair c) Paradoxical embolism d) PHT (5-9%) (rarely severe)
INDICATIONS FOR ASD CLOSURE a) Dilatation of right chambers (I;B) b) Paradoxical embolism (IIa;C) c) Platypnea-orthodeoxia (IIa;C) d) PHT with marked LAR shunt > 1.5: 1 or with significant reactivity to vasodilator (IIb;C) e) Do not close if irreversible PHT with sPAP > 2/3 SBP or PVR > 2/3 SVR (III;C)
Sinus venosus ASD
Primum ASD
Secundum ASD
SVC
IVC
Septum primum Septum secundum
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PERCUTANEOUS CLOSURE: possible if secundum ASD < 38 mm with adequate margins (distance > 5 mm from AV valves, coronary sinus, origin of SVC / IVC and right pulmonary veins) and with normal pulmonary venous return › ASA for 6 months after ASD closure; complications (1 %) A prosthesis embolization; erosion (atrial wall or Ao); thromboembolism; arrhythmia - AF; endocarditis; tamponade
25% of adults
ASSOCIATION WITH CRYPTOGENIC STROKE: possibility of paradoxical embolism › Risk factors: PFO > 5 mm or spontaneous RAL shunt or atrial septal aneurysm or prominent Eustachian valve
TREATMENT OF CRYPTOGENIC STROKE: highly controversial 1) First-line ASA; Warfarin if documented DVT (± closure of PFO) 2) If recurrence: anticoagulation vs percutaneous closure - No convincing evidence for the superiority of percutaneous closure versus medical treatment (equivocal results in ★ CLOSURE-I, ★ RESPECT and ★ PC)
1) SUBARTERIAL (5%): below the Ao and P valves; associated with AR (due to leaflet prolapse); numerous synonyms (outlet; conal; subpulmonary; subaortic; infundibular; supracristal)
MEMBRANOUS VSDSUBARTERIAL VSD MUSCULAR VSDINLET VSD
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CLINICAL FEATURES AND SEVERITY: Restrictive VSD (RV pressure << LV pressure) or nonrestrictive VSD (RV pressure similar to LV pressure) › Small VSD: normal LV dimensions; absence of PHT; holosystolic murmur in left parasternal region (3rd-4th left intercostal spaces) with spoke-wheel radiation ± palpable thrill; spontaneous closure is possible › Moderate VSD: LA and LV dilatation (volume overload); PHT (reversible); ± mitral diastolic rumble; S3; lateralized apex › Large VSD: Progressive PHT then Eisenmenger; absence of VSD murmur; signs of PHT (left parasternal heave; G and palpable P2; right S4; ejection click; Graham-Steel murmur and TR)
COMPLICATIONS a) Left heart failure (volume overload) b) PHT (± right heart failure due to pressure overload) c) Progressive AR due to leaflet prolapse (subarterial VSD or membranous VSD) d) Double chamber RV (muscle band develops as a result of the VSD jet, inducing subpulmonary stenosis) e) Progressive subaortic stenosis f) Arrhythmia: AF; PVCs; NSVT; postoperative AV block g) Endocarditis
INDICATIONS FOR VSD CLOSURE a) Significant VSD: symptoms or progressive left ventricular dysfunction (volume overload) or right ventricular dysfunction (pressure overload) or Qp:Qs > 2:1 or sPAP > 50 mmHg (I;B) b) Subarterial or membranous VSD with AR ≥ moderate (I;B) c) In the presence of severe PHT (sPAP > 2/3 SBP or PVR > 2/3 SVR), closure should only be considered in the case of LAR shunt > 1.5:1 or significant reactivity to vasodilators (I;B) d) Double chamber RV: significant obstruction (mean gradient > 40 mmHg or > 30 mmHg with symptoms) e) Endocarditis (IIa;B)
7.5/ ATRIOVENTRICULAR CANAL DEFECT Developmental anomaly of endocardial cushions a) Partial atrioventricular canal defect: intact interventricular septum; primum ASD; mitral cleft; AV valves inserted at same level (common annulus) b) Complete atrioventricular canal defect: defect of the septum on either side of the cardiac crux: non-restrictive VSD (inlet VSD) and primum ASD; common atrioventricular orifice (one common AV valve with 5 leaflets) › Associated Down syndrome (Trisomy 21): small stature, typical facies, mental retardation, brachydactyly, atlanto-axial instability, hypothyroidism, propensity to PHT, OSAHS
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COMPLICATIONS a) Left and right AV valve regurgitation b) Left heart failure (secondary to VSD and left AV valve regurgitation) c) Right heart failure (secondary to ASD and right AV valve regurgitation) d) PHT; Eisenmenger if not operated e) Arrhythmias: AF; flutter; AV block f) Progressive subaortic stenosis g) Paradoxical embolism h) Postoperative residual shunt i) Postoperative mitral stenosis
INDICATIONS FOR SURGERY Patient already operated a) Hemodynamically significant persistent or de novo defect (I;B) b) Deterioration of LV function (I;B) c) Symptomatic left AV valve regurgitation (I;B) d) Symptomatic left AV valve stenosis (post-repair) (I;B) e) Subaortic obstruction with mean gradient > 50 mmHg (I;B) f) Do not operate if severe, irreversible PHT (sPAP > 2/3 SBP or PVR > 2/3 SVR) (III;C)
7.6/ PATENT DUCTUS ARTERIOSUS Connection between proximal pulmonary artery and descending aorta (distal to the left subclavian artery)
C) MODERATE PATENT DUCTUS ARTERIOSUS: continuous machinery murmur in 2nd left intercostal space ± thrill; increased pulse pressure; bounding pulse; LV dilatation (lateralized, hyperdynamic apex); S3; reversible PHT (induces H duration of the murmur)
D) LARGE PATENT DUCTUS ARTERIOSUS: Severe PHT; Eisenmenger physiology; absence of continuous murmur; differential hypoxemia and cyanosis (lower limbs cyanosed; clubbing of the toes)
RA
RV
LV
LA
Ao
PA
Patent ductus arteriosus
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COMPLICATIONS a) Left heart failure (volume overload) b) Progressive PHT c) Arrhythmias (AF) d) Endarteritis / Ductus aneurysm
INDICATIONS FOR SURGERY a) All cases of patent ductus arteriosus except when silent or large with irreversible PHT (IIa;B) b) Endarteritis (IIa;B) c) In the presence of severe PHT (sPAP > 2/3 SBP or PVR > 2/3 SVR), closure should only be considered in the case of LAR shunt > 1.5:1 or significant reactivity to vasodilators (IIa;B)
Fixed obstruction above the sinus of Valsalva
WILLIAMS SYNDROME: autosomal dominant; 7q11.23 deletion; supravalvular aortic stenosis, peripheral pulmonary artery stenosis, renal artery stenosis, HTN, hypercalcemia, cognitive deficits, “cocktail” personality, elf-like facies
CLINICAL FEATURES: BP right arm >> BP left arm (Coanda effect with preferential jet to innominate artery); crescendo-decrescendo systolic murmur; suprasternal thrill; increased A2; absence of ejection click; S4; peripheral PA stenosis can cause end-systolic or continuous posterior murmur
a) Symptoms and/or mean gradient > 50 mmHg (I;C) b) Doppler instantaneous maximum gradient > 70 mmHg if mild obstruction (I;C)
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ROSS PROCEDURE: replace the aortic valve by the patient’s pulmonary valve and replace the pulmonary valve by a cadaveric homologous graft; reimplantation of coronary arteries › Complications: structural deterioration of the homologous P graft; aortopathy (specific to bicuspid aortic valve); AR; coronary stenosis
Discrete membrane or tunnel-shaped LVOT stenosis
ASSOCIATED WITH: AR (valvular damage caused by the high velocity jet); VSD; AV canal defect; Shone complex › Shone complex: multiple stenoses at different levels: A) Supravalvular mitral annulus or parachute mitral valve; B) Subvalvular aortic stenosis; C) Bicuspid aortic valve; D) CoA
INDICATIONS FOR SURGERY a) Symptoms with Doppler instantaneous maximum gradient > 50 mmHg or mean gradient > 30 mmHg (I;C) b) Associated progressive AR (I;C)
ASSOCIATED ABNORMALITIES: Bicuspid aortic valve (80% of cases); aneurysm of the circle of Willis; collateral circulation (intercostal and mammary arteries); aortopathy; anomalous brachiocephalic circulation; aortic arch hypoplasia; VSD; Shone complex › Turner Syndrome (45, X): CoA (35%); bicuspid aortic valve; ASD; VSD
SIGNIFICANT COA (IN THE ABSENCE OF COLLATERAL): HTN in arms with trans-CoA gradient on catheterization > 20 mmHg or with SBP in arms ≥ 20 mmHg higher than SBP in legs
CLINICAL FEATURES › In the absence of collaterals: HTN in arms; SBP in arms higher than in legs; radiofemoral delay on palpation of pulse; interscapular ejection murmur (rarely continuous); S4; G A2; systolic click / systolic murmur in the presence of bicuspid aortic valve › In the presence of collaterals: continuous crescendo-decrescendo murmur in left parasternal region or left scapula
TTE: turbulence and G velocity in descending Ao (suprasternal view) with diastolic extension of anterograde flow › Abdominal aorta: H velocity of systolic flow and diastolic extension of anterograde flow
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MANAGEMENT a) Congenital cardiology follow-up for life b) Control of BP (at rest and on exercise) and cardiovascular risk factors c) BB if aortopathy d) Imaging of the entire aorta (MRI) with regular follow-up (by TTE for ascending Ao / Ao valve and MRI for entire Ao) e) Brain MRI (rule out aneurysm of the circle of Willis) f) Avoid contact sports / isometric exercises if residual CoA or associated aortopathy
COMPLICATIONS a) Left heart failure (pressure overload) b) Persistent HTN c) Aortopathy / Aortic dissection d) Aortic valve disease e) Early CAD and PAD f) Intracranial aneurysms / Hemorrhage g) Endarteritis
INDICATIONS FOR SURGERY › In the presence of significant CoA: peak-to-peak gradient ≥ 20 mmHg on catheterization or less in the presence of collaterals (I;C)
PERCUTANEOUS APPROACH (dilatation + stenting): preferable in the majority of cases (except in the case of a long or tortuous lesion) and preferred technique in the presence of re-coarctation › Complications: aortic dissection / rupture; stroke; aneurysm or pseudoaneurysm; aortobronchial fistula; re-CoA; persistent HTN
SURGICAL OPTIONS: resection with end-to-end anastomosis or graft placement; patch aortoplasty; subclavian flap aortoplasty; bypass graft › Complications: paraplegia; recurrent laryngeal nerve or phrenic nerve paralysis; dissection; aneurysm (post-patch aortoplasty); pseudoaneurysm; claudication of arms (subclavian flap aortoplasty); re-CoA; persistent HTN; endarteritis
POST-REPAIR FOLLOW-UP: Regular MRI and regular TTE › Consider screening for intracranial aneurysms in the circle of Willis
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MILD MODERATE SEVERE
Doppler instantaneous maximum gradient (mmHg) < 36 36 - 64 > 64
Peak velocity (m/s) < 3 3 - 4 > 4
* Doppler measurements not valid in the presence of long stenosis / tunnel stenosis
CLINICAL FEATURES: systolic ejection murmur (left parasternal region and posterior; increased by inspiration; sometimes continuous in peripheral pulmonary artery stenosis); absence of ejection click; increased or preserved P2; left parasternal heave
Associated with VSD or TOF
2 TYPES 1) Dome-shaped: thin, pliable, mobile valve; fusion of commissures; post-stenotic dilatation of the PA 2) Dysplastic (10-15%): thickened, immobile leaflets; associated with Noonan syndrome; absence of post-stenotic dilatation
CLINICAL FEATURES: Prominent a wave in jugular vein; left parasternal heave; crescendodecrescendo systolic murmur ± thrill; ejection click if the valve is pliable (early if severe PS; absent in the presence of a dysplastic valve; H during inspiration due to premature valve opening); delayed and decreased P2 (absent if severe PS); right S4; ± cyanosis (if ASD or PFO)
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Noonan syndrome: autosomal dominant; dysplastic pulmonary valve, pulmonary artery stenosis, ASD, HCM, developmental delay, facial dysmorphism, small stature, congenital lymphedema
LEOPARD syndrome: autosomal dominant; lentigines, ECG abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genital organs, growth retardation, deafness, LVH
POSSIBLE COMPLICATIONS › RVH › Right heart failure ± TR › Pulmonary regurgitation (postoperative) › Pulmonary artery dilatation (post-stenotic) › Cyanosis in the presence of associated ASD or VSD › Atrial arrhythmia (AF / flutter) or ventricular arrhythmia
INDICATIONS FOR SURGERY a) Balloon valvuloplasty for dome-shaped valvular stenosis with symptoms and maximum Doppler gradient > 50 mmHg or mean gradient > 30 mmHg (I;C) b)Balloon valvuloplasty for asymptomatic dome-shaped valvular stenosis and maximum Doppler gradient > 60 mmHg or mean gradient > 40 mmHg (I;C) c) Surgery if significant RVOT obstruction with: dysplastic valve or supravalvular stenosis or subvalvular stenosis or associated pulmonary hypoplasia or severe associated PR (I;C) d) Severe postoperative PR: deterioration of functional class or deterioration of RV function or significant TR or flutter / AF or sustained ventricular arrhythmia (I;C) e) Valvular stenosis with: significant arrhythmia or ASD / VSD (with RAL shunt) or recurrent endocarditis (IIa;C) f) Double chamber RV with significant mid-chamber obstruction (gradient > 50 mmHg on catheterization) (IIa;C)
Ao overriding IVS
VSD
RVH
RV LV
LA
RA
Ao PA
RVOT obstruction
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CORRECTIVE SURGERY: A) Closure of the VSD; B) RVOT disobstruction; C) ± infundibulectomy or subannular patch or transannular patch (induces significant PR) or RV - PA conduit (if congenital coronary artery anomalies crossing over the RVOT) or PVR or pulmonary valvotomy or pulmonary arterioplasty
ASSOCIATED ABNORMALITIES: right aortic arch; secundum ASD (pentalogy of Fallot); pulmonary trunk and peripheral pulmonary artery stenosis / hypoplasia; congenital coronary artery anomalies (LAD with ectopic origin crossing over the RVOT)
› DiGeorge syndrome (15% of TOF): 22q11 deletion; facial dysmorphism, hypocalcemia, thymus hypoplasia, immune deficit, psychiatric illness, truncus arteriosus, interrupted aortic arch, double outlet RV
CLINICAL FEATURES (POST-CORRECTION): left parasternal heave; soft ejection murmur (RVOT); subtle and soft diastolic pulmonary murmur (PR); ± absent P2; ± holosystolic murmur in the case of residual VSD; ± AR murmur
TTE: Severe PR if the continuous Doppler regurgitation envelope is dense and reaches zero before the end of diastole (equalization of pressures on either side of the valve) or if PHT < 100 msec
POST-CORRECTION COMPLICATIONS › Pulmonary regurgitation › RV dysfunction / RV dilatation (± TR) › Residual RVOT obstruction (subvalvular, valvular or supravalvular) / peripheral pulmonary artery stenosis (causing RV pressure overload) › Residual VSD › Infundibular aneurysm › LV dysfunction › Aortic root dilatation / Progressive AR › Arrhythmia: atrial flutter; IART; AF; AV block › VT (RVOT heavily scarred from surgical intervention); sudden death (0.2% year) › Endocarditis INDICATIONS FOR POST-CORRECTION SURGERY (IIA;C) a) Severe PR with: symptoms or moderate-to-severe RV dilatation (end-diastolic volume > 170 mL/m²; end-systolic volume > 85 mL/m²) or moderate-to-severe RV dysfunction (RVEF < 45 %) or moderate-to-severe TR or atrial or ventricular arrhythmia b) Residual VSD with shunt > 1.5:1 c) Moderate to severe RVOT obstruction (peak Doppler gradient > 50 mmHg) d) Severe AR with symptoms or LV dysfunction e) Aortic root > 55 mm f) RVOT aneurysm or false aneurysm g) Combination of residual VSD and/or residual PS and PR inducing RV dilatation / dysfunction or symptoms
SURGICAL OPTIONS: A) PVR (bioprosthesis or cadaver) ± tricuspid annuloplasty; B) Percutaneous pulmonary valve inserted into a pre-existing RV-PA conduit; C) Infundibular resection or RVOT patch or transannular patch or valved conduit if obstruction persists
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VENTRICULAR ARRHYTHMIA: Risk factors: A) Inducible VT on EPS; B) QRS > 180 ms; C) History of palliative shunt; D) Significant PR or RVOT obstruction; E) Advanced age at the time of complete correction; F) NSVT on Holter; G) RV or LV dysfunction; H) Syncope; I) Severe RV dilatation (> 150-180 ml/m²) › Secondary prevention: ICD indicated › Primary prevention: indication for ICD determined on an individual basis according to the risk of sudden death (risk of frequent inappropriate shocks)
7.11/ TRANSPOSITION OF THE GREAT ARTERIES (D-TGV) Atrioventricular concordance and ventriculoarterial discordance (the RA is connected to the morphological RV which is connected to the Ao; the LA is connected to the morphological LV which is connected to the PA); incompatible with life in the absence of operation (2 parallel circuits)
The majority of adults have undergone this procedure (but this operation was replaced by arterial switch in about 1990); the blood is redirected to the atria by means of a conduit (baffle) made from pericardium or Dacron allowing physiological correction (systemic venous blood is redirected towards the subpulmonary LV; pulmonary venous blood is redirected towards the subaortic RV)
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COMPLICATIONS a) Systemic RV failure (+ TR) b) Systemic RV ischemia (perfused only by the RCA) c) Systemic AV valve regurgitation (abnormal septal geometry) d) Obstruction of the baffle (SVC; IVC) e) Baffle leak (paradoxical embolism; cyanosis) f) Subpulmonary obstruction (abnormal LV geometry) g) Arrhythmias: atrial flutter; IART; SSS; AV block h) VT - Sudden death (risk factors: RV dysfunction; age; supraventricular arrhythmia; QRS > 140 ms) INDICATIONS FOR POST-MUSTARD SURGERY (IIA;C) a) Moderate-to-severe systemic AV valve regurgitation b) SVC or IVC obstruction (dilatation + stent in baffle) c) Pulmonary vein obstruction (post-Senning procedure) d) Baffle leak with: significant shunt (Qp:Qs > 1.5:1) or symptoms or PHT or progressive ventricular dilatation / dysfunction or need for pacemaker transvenous lead or RAL shunt with cyanosis (percutaneous closure of the leak) e) Symptomatic tachyarrhythmia: ablation f) Bradyarrhythmia: pacemaker with endovenous lead in the absence of baffle stenosis or baffle leak g) Consider transplant if severe systemic RV dysfunction
ARTERIAL SWITCH: JATENE PROCEDURE Switching of the Ao and PA; the PA is replaced anteriorly (Lecompte maneuver); the coronary arteries are reimplanted; the LV becomes subaortic
COMPLICATIONS a) Obstruction of the aorta and pulmonary artery at the sites of surgical anastomosis b) Subpulmonary or PA or pulmonary arterial branch obstruction following Lecompte maneuver c) Aortic root dilatation / AR d) Stenosis of the coronary ostia (regular screening for CAD is indicated)
INDICATIONS FOR POST-JATENE SURGERY (IIA;C) a) Significant PA obstruction (subvalvular, supravalvular or arterial branch) b) Coronary artery obstruction c) Severe AR d) Severe Ao dilatation > 55 mm
For treatment of D-TGV with VSD and RVOT obstruction
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RV LV
LA
RA
AoPA
ECG: AV block (fragile His bundle wich is displaced anteriorly and laterally); septal activation from R to L (septal Q waves absent on left precordial leads, but present on right precordial and inferior leads); accessory pathway
COMPLICATIONS a) Progressive systemic AV valve regurgitation (T valve) b) Progressive systemic RV dysfunction c) Systemic RV ischemia (only perfused by the RCA) d) Complete AV block (2% / year) e) Atrial arrhythmia: AF; IART; accessory pathway f) VT - sudden death INDICATIONS FOR SURGERY a) Moderate-to-severe systemic AV valve regurgitation (IIa;B) b) Deterioration of the systemic RV (IIa;C): consider heart transplantation
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7.13/ EBSTEIN ANOMALY Apical displacement of the tricuspid valve > 8 mm/m² (septal and posterior leaflets) with elongated / redundant anterior leaflet; atrialized RV (small volume functional RV)
ASSOCIATED ABNORMALITIES: A) Accessory pathway(s) (25% of patients; 50% have multiple pathways); B) secundum ASD or PFO ± cyanosis (50% of patients); C) RVOT obstruction (by T valve); VSD; mitral valve disease
CLINICAL FEATURES: ± V wave in jugular veins (often absent due to severe RA dilatation); left parasternal heave; split S1 with G T1; split S2 (RBBB); right S3; lower left parasternal holosystolic murmur (G on inspiration); systolic clicks; ± cyanosis; low output state; signs of right heart failure
COMPLICATIONS a) Severe TR b) Right heart failure / Dilatation of right chambers c) Arrhythmias: flutter; AF; AT; accessory pathway(s) d) Sudden death (pre-excited atrial arrhythmia or VT) e) Cyanosis - paradoxical embolism in the presence of PFO or ASD f) RVOT obstruction due to the abnormal tricuspid valve g) Tricuspid stenosis or prosthetic valve dysfunction post-surgery
INDICATIONS FOR SURGERY (I;B) a) Severe TR with NYHA III - IV or deterioration of functional class b) Progressive RV dysfunction or dilatation c) Progressive cardiomegaly on CXR (cardiothoracic ratio > 65%) d) Cyanosis with resting SaO2 < 90% (closure of ASD) e) Paradoxical embolism (closure of ASD) f) Arrhythmia / WPW: ablation by catheter or surgical cryoablation
Atrialized RV Tricuspid orifice
RV
LV
LA
RA
Ao PA
Level of tricuspid annulus
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OTHER SURGICAL OPTIONS › Conventional TVR › Bidirectional cavopulmonary connection (bidirectional Glenn): decreases preload and workload of the small RV › Fontan procedure in the presence of a hypoplastic RV › Heart transplantation
MANAGEMENT a) BB (H dP/dT) and ARB b) Target SBP < 120 mmHg (BB; ARB) c) Avoid isometric exercise - competitive / contact sports d) MRI indicated to evaluate all of the aorta; regular follow-up is recommended
TTE FOLLOW-UP MRI OR CT ANGIOGRAPHY
Annually Every 3 to 5 years (more frequent if dilatation / imminent indication for surgery / 1 year postop / recent dissection)
INDICATIONS FOR SURGERY (I;B) a) Ascending aorta > 50 mm b) Ao > 45 mm: with: progression > 5 mm/year or progressive AR with probable valve preservation or family history of aortic dissection with Ao < 50 mm or severe MR requiring surgery c) Ao > 40 mm before pregnancy d) Other regions of the Ao between 50-60 mm or progressive dilatation
SURGICAL OPTIONS: A) Bentall procedure: replacement of ascending Ao with valved graft; B) David procedure: replacement of the ascending Ao with graft and resuspension of the native aortic valve (valve sparing)
PREGNANCY: risk of transmission (autosomal dominant); MRI imaging of the entire Ao; TTE every 4-8 weeks; BB; avoid G dP/dT during delivery; cesarean section if unstable aorta (> 40-45 mm) › Pregnancy contraindicated if Ao > 45 mm (risk of aortic dissection) › If Ao ≥ 40 mm: referral for sugery is recommended if contemplating pregnancy
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SYSTEM MAJOR CLINICAL SIGNS MINOR CLINICAL SIGNS
DEFINITION OF SYSTEM INVOLVEMENT
Skeletal
• Pectus carinatum • Surgical Pectus excavatum • Long limbs › Arm span to height ratio > 1.05 or › H Upper segment to lower segment ratio • Long fingers › Wrist sign and thumb sign • Scoliosis > 20° or spondylolisthesis • Maximum elbow extension < 170° • Flat foot • Acetabular protrusion (hip x-ray)
• Moderate Pectus excavatum • Joint hypermobility • Arched palate with overlapping teeth • Characteristic facies
Major ≥ 4 major signs
Minor ≥ 2 major signs or 1 major and 2 minor signs
Ocular • Lens dislocation • Flat cornea • Elongated eyeball • Myopia
Major 1 major sign
Minor ≥ 2 minor signs
Cardiovascular
• MVP • Pulmonary trunk dilatation < 40 years • MAC < 40 years • Dilatation or dissection of the descending thoracic aorta or abdominal aorta < 50 years
Major ≥ 1 major sign
Minor ≥ 1 minor sign
Pulmonary
• Spontaneous pneumothorax • Apical bulla (CXR or CT)
Minor ≥ 1 minor sign
Cutaneous
• Striae atrophicae (unexplained) • Recurrent incisional herniae
Minor ≥ 1 minor sign
Dura mater • Lumbosacral dural ectasia (CT or MRI)
Major 1 major sign
Genetic • 1 first-degree relative with diagnostic criteria • FBN1 gene mutation causing Marfan
Diagnosis established: • 1 system with major involvement + 1 system with minor involvement + 1 genetic criterion • 2 systems with major involvement + 1 system with minor involvement
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7.15/ FONTAN PROCEDURE Palliative procedure in the presence of a single ventricle (anatomical or functional); systemic venous return redirected to PA, short-circuiting the subpulmonary ventricle
STEPS OF THE MODIFIED FONTAN PROCEDURE: 1) Bidirectional cavopulmonary connection (bidirectional Glenn): connection between the SVC and R or L pulmonary arteries; 2) Connection of IVC to PA (lateral conduit or extracardiac conduit or intracardiac conduit) with pulmonary trunk ligation
FACTORS OF HEMODYNAMIC DETERIORATION a) Any G filling pressure of the systemic ventricle b) Obstruction to systemic venous return (thrombosis or obstruction of Fontan; G PVR; pulmonary arteries stenosis; pulmonary vein compression) c) Arrhythmia (risk of hemodynamic deterioration and thrombus)
COMPLICATIONS a) Intra-Fontan thrombus: predisposed by stasis and atrial arrhythmia; leads to Fontan obstruction / pulmonary embolism / paradoxical embolism b) Fontan obstruction (at anastomotic sites or by thrombus) c) Right pulmonary vein compression by the interatrial septum or the dilated RA d) Arrhythmia: IART; flutter; AF; SSS; AV block e) Cyanosis in the presence of a RAL shunt: systemic venous collateral to pulmonary veins; pulmonary AVM; residual ASD; fenestrated Fontan; hepatopulmonary syndrome f) Ventricular dysfunction / systemic AV valve regurgitation g) Protein-losing enteropathy: anasarca; diarrhea; G fecal alpha-1-antitrypsin and hypoalbuminemia h) Congestive hepatopathy (or even cardiac cirrhosis)
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MANAGEMENT a) A/C if thrombus or stasis or thromboembolism or ASD or fenestration or atrial arrhythmia b) Single-ventricle failure: consider ACE inhibitors - BB; sildenafil; transplant; mechanical support c) Aggressive treatment of atrial arrhythmias: look for a hemodynamic cause; TEE prior to ECV; AAD; A/C; catheter ablation; conversion to extracardiac Fontan with intraoperative Maze d) When a pacemaker is indicated: epicardial ventricular lead e) Protein-losing enteropathy: diuretics - aldactone; eliminate obstruction or arrhythmia; dietary support; IV albumin; corticosteroids; sildenafil; Fontan fenestration; transplant
INDICATIONS FOR REOPERATION (I;C) a) Obstruction to systemic venous return (revision of the Fontan or angioplasty / stenting or conversion of Fontan or thrombectomy) b) Obstruction to pulmonary venous return (conversion to extracardiac Fontan) c) Moderate-to-severe systemic AV valve regurgitation d) Symptomatic cyanosis with venovenous collaterals or pulmonary AVM (catheter occlusion) e)Residual ASD or fenestrated Fontan with significant RAL shunt (percutaneous closure) f) Subaortic stenosis with peak-to-peak gradient > 30 mmHg g) Protein-losing enteropathy with Fontan obstruction (revision of the Fontan or angioplasty / stenting) or with elevation of systemic venous pressures (consider fenestration) h) Symptomatic and refractory atrial arrhythmia (conversion to extracardiac Fontan with intraoperative Maze)
7.16/ EISENMENGER SYNDROME Obstructive pulmonary vascular disease secondary to communication between pulmonary and systemic circulations (LAR shunt), leading in the long term to irreversible elevation of PAP and PVR (to systemic levels) and reversal of the shunt (RAL)
COMPLICATIONS a) RV dysfunction b) Complications of cyanotic heart disease: erythrocytosis; bleeding; CRF; hyperuricemia / gout; cholelithiasis c) Intrapulmonary hemorrhage / hemoptysis d) Pulmonary artery aneurysm e) Pulmonary artery thrombosis / Pulmonary embolism f)Stroke - TIA; paradoxical embolism g)Brain abscess h) Arrhythmias: AF; flutter; VT i) Sudden death j) Endocarditis
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MANAGEMENT a) Correct iron deficiency, when present b) Aggressive treatment of arrhythmia c) Noncardiac surgery: multidisciplinary preoperative assessment in a tertiary institution d) Pregnancy contraindicated e) Avoid dehydration - hemorrhage - anemia f) Avoid NSAID - vasoactive agents (which G the shunt and cyanosis) - estrogens - nephrotoxins g) Air filter on IV lines h) Avoid vigorous physical exercise i) Dental hygiene and prophylactic antibiotics j) Investigate hemoptysis (CXR; CBC; CT scan; embolization PRN) k) Influenza - pneumococcus vaccination
TREATMENT OF PHT a) First-line endothelin antagonists (Bosentan; Macitentan) b) PDE-5 inhibitors or prostanoids
7.17/ CYANOTIC HEART DISEASE RAL shunt (deoxygenated blood enters the systemic circulation); chronic hypoxemia
SECONDARY ERYTHROCYTOSIS (G EPO) › Hyperviscosity (Hct > 65% and Hb > 20 g/dL): headache; faintness; tiredness; disorders of concentration; visual disorders; paresthesia; tinnitus; myalgia; intraoperative bleeding • Treatment: phlebotomies (if patient is iron-repleted and well hydrated) • Treat any iron deficiency (as microcytosis can cause hyperviscosity and is a risk factor for stroke); beware of rebound effect › Bleeding / clotting abnormalities (if severe bleeding: FFP; vitamin K; cryoprecipitates; DDAVP; platelets)
OTHER COMPLICATIONS: Stroke - TIA; cerebral hemorrhage; paradoxical embolism; brain abscess; CRF; proteinuria; hyperuricemia; gout; hypertrophic osteoarthropathy (arthralgia); scoliosis; cholelithiasis › Beware of nephrotoxic agents, including contrast agents
BASIC WORK-UP: SaO2; CBC; ferritin; transferrin; iron saturation; ± folate; ± vitamin B12; PT-PTT; renal function; uric acid
PALLIATIVE SHUNTS (systemic to pulmonary): objective: improve pulmonary blood flow and cyanosis › Blalock-Taussig: subclavian artery to pulmonary artery (modern: graft connecting the two arteries, preserving perfusion of the upper limb) › Waterston: Ascending Ao to right PA › Potts: Descending Ao to left PA › Physical examination: Continuous murmur (except in the presence of stenosis / occlusion / significant PHT) › Complications: PHT; distortion of PAs; stenosis / aneurysm at the site of anastomosis; heart failure (volume overload); arrhythmias
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1 % of the population
a) Coronary artery coursing between the great vessels with documented ischemia (I;B) b) Ectopic origin of LMCA (opposite sinus) coursing between the Ao and the PA (I;B) c) Ectopic origin of the right coronary artery (opposite sinus) coursing between the Ao and the PA with documented ischemia (I;B) d) Ectopic origin of the LAD coursing between the Ao and the PA (IIb;C)
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INDICATIONS FOR SURGERY (coronary reimplantation) › All patients with ALCAPA syndrome (I;C)
Communication between a coronary artery and a heart chamber (RA; RV) or a vein (coronary sinus; vena cava; pulmonary vein) or sometimes the PA
COMPLICATIONS a) Dilatation of the nutrient coronary artery b) Rupture - dissection c) Myocardial ischemia distal to the fistula d) Endarteritis e) Left heart failure
INDICATIONS FOR SURGERY (percutaneous closure by embolization or surgical closure) a)Large fistula - Qp:Qs > 1.5 : 1 (I;C) b)Small to moderate fistula with: ischemia or arrhythmia or LV dysfunction or LV dilatation or endarteritis (I;C)
RUPTURE: Sudden chest pain and dyspnea; continuous AV shunt with possible left and right heart failure; bounding pulse; continuous murmur ± thrill a)Ruptured aneurysm of the right sinus of Valsalva: Ao - RVOT fistula b) Ruptured aneurysm of the non-coronary sinus: Ao - RA fistula c) Ruptured aneurysm of the left sinus of Valsalva: Ao - LA fistula
Intramyocardial coronary segment (usually LAD)
Compression of the coronary segment with each systole
7.20/ VASCULAR RING Malformation of the aortic arch associated with compression of the esophagus and/or trachea (dysphagia, respiratory symptoms, stridor)
a) Double aortic arch b) Right aortic arch; associated with Kommerell’s diverticulum compressing the trachea (diverticulum at the junction of the left subclavian artery and the descending aorta) c) Aberrant origin of the right subclavian artery (posterior to the esophagus) d) Retroesophageal descending aorta (compression of the trachea)
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Severity varies according to the degree of stenosis; nonobstructive form (benign) versus obstructive form (leads to PHT)
Management similar to that of MS
HEMODYNAMIC CHANGES CONSEQUENCES
G 40-50% of plasma volume Risk of congestion
G 10-20% of HR Poorly tolerated MS
H Peripheral resistance (especially H DBP)
Tolerated poorly stenotic lesions (increased gradient)
G Venous pressure in legs Risk of stasis / DVT
Hypercoagulability Increased thromboembolic risk
G HR; normal or slightly G CVP; Hyperdynamic state (pulse; apex); Apex may be broadened and slightly lateralized; leg edema is frequent
Accentuated S1 - accentuated splitting; S2 may appear to be constantly split at the end of pregnancy; S3 is frequent; left parasternal ejection murmur ≤ 3/6; continuous murmur (cervical venous “hum” or breast murmur)
1) History of heart failure - TIA - Stroke - Arrhythmia 2) NYHA ≥ III or cyanosis 3) Mitral valve area < 2 cm² or Aortic valve area < 1.5 cm² or LVOT gradient > 30 mmHg 4) Systemic ventricle systolic function < 40%
Risk of cardiac event during pregnancy:
• 0 point: 5 % • 1 point: 27 % • ≥ 2 points: 75 %
* Does not take PHT - mechanical valve - aortopathy into account
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• Uncomplicated, small or mild PS or patent ductus arteriosus or MVP • Successfully repaired simple lesions (ASD; VSD; patent ductus arteriosus; anomalous pulmonary venous drainage) • Isolated APC and PVC
• Unrepaired ASD or VSD • Repaired TOF • Most arrhythmias
Stage II or III, depending on severity • Mild LV dysfunction • HCM • Valvular heart disease not considered to be WHO stage I or IV • Marfan syndrome without Ao dilatation • Bicuspid aortic valve with Ao < 45 mm • Repaired CoA
STAGE III: HIGH-RISK PREGNANCY (EXPERT FOLLOW-UP RECOMMENDED) • Mechanical valve • Systemic RV • Fontan • Cyanotic heart disease • Complex congenital heart disease • Marfan: Ao 40-45 mm • Bicuspid aortic valve: Ao 45-50 mm
• Severe pulmonary arterial hypertension • Severe LV dysfunction (LVEF < 30% - NYHA III or IV) • Previous peripartum cardiomyopathy with residual impairment of LV function • Severe MS or severe AS • Marfan: Ao > 45 mm • Bicuspid aortic valve: Ao > 50 mm • Unrepaired CoA
Pregnancy contraindicated if ascending Ao > 50 mm (or > 25 mm/m²) › In the presence of Ao dilatation: TTE every 4-8 weeks; BB
SEVERE AORTIC STENOSIS: avoid pregnancy (particularly if symptoms or LV dysfunction or abnormal stress test); risk of hemodynamic instability during delivery; percutaneous valvuloplasty PRN in the presence of severe symptoms
Moderate-to-severe MS is poorly tolerated; deterioration due to tachycardia and G cardiac output; risk of pulmonary congestion and PHT
BB (Metoprolol); valvuloplasty PRN if refractory NYHA III-IV
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Generally well tolerated if moderate regurgitation / NYHA ≤ II / normal LV function and dimensions
Diuretics and vasoactive agents PRN; Surgery if refractory NYHA III-IV
Follow-up by an experienced multidisciplinary team
MECHANICAL VALVE: significant maternal and fetal risks › Thromboembolic risk (hypercoagulability of pregnancy) › Risk associated with anticoagulation (fetal loss; placental hemorrhage; insufficient anticoagulation; embryopathy; management during delivery)
WARFARIN DOSE > 5 MG QD: LMWH or IV Heparin during first trimester; replace by Warfarin for 2nd and 3rd trimesters; then replace by unfractionated heparin prior to planned delivery
CYANOTIC HEART DISEASE Pregnancy contraindicated if SaO2 < 85 %
RAL shunt increased by H peripheral resistance
Maternal hypoxia alters fetal growth and survival
Avoid pregnancy if LVEF < 40%
› Diagnosis of exclusion
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RISK FACTORS: twin pregnancy, African American mother, advanced age, pre-eclampsia, smoking MANAGEMENT: A) Hydralazine / Nitrates; B) BB (avoid Atenolol and Carvedilol; prefer beta-1 selective BB; Metoprolol is the best studied BB during lactation); C) Digoxin; D) Diuretics; E) Anticoagulate if intracardiac thrombus or LVEF < 35% or concomitant Bromocriptine › ACE inhibitors (Captopril; Enalapril) are safe while breastfeeding › Possible benefit of post-partum Bromocriptine (2-5 mg/day) › Continue therapy with standard HF medications for ≥ 12 months
Normalization of LVEF in 50% of women (2 to 6 months)
Avoid subsequent pregnancy (30% recurrence rate)
Autosomal dominant; variable penetrance
High-risk pregnancy if symptoms at baseline or significant baseline LVOT gradient
PRE-EXISTING HTN: before pregnancy or < 20 weeks; rule out CoA GESTATIONAL HYPERTENSION: de novo HTN (> 20 weeks after start of pregnancy); BP > 140/90 on 2 occasions; absence of proteinuria; returns to normal during the first 12 weeks postpartum › Management: Labetalol; Methyldopa; Nifedipine
PRE-ECLAMPSIA: gestational HTN with the presence of proteinuria (> 300 mg/24 h or > 30 mg/mmol on urine spot test › Risk factors: primiparous; twin pregnancy; ≥ 40 years; BMI ≥ 35 kg/m2; family history of preeclampsia › Clinical features: headache, blurred vision, abdominal pain, thrombocytopenia, abnormal LFTs, hemolysis, hyperreflexia - clonus, seizures, acute pulmonary edema, stroke › Management: rest; sodium restriction; magnesium sulphate; delivery; IV Labetalol; Methyldopa; Nifedipine; IV Nitroglycerin; target SBP 140 to 160 mmHg and DBP 90 to 105 mmHg
Anticoagulant according to embolic risk
Avoid estrogens in women with cyanotic heart disease, AF or flutter, mechanical prosthetic valve, Fontan, thromboembolic history or LVEF < 40%
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