TRICUSPID ATRESIA Dr Vivek pillai • Defined as congenital absence or agenesis of the tricuspid valve, with no direct communication between the right atrium and right ventricle. • Incidence : 0.06 per 1000 live births • Prevalence :in clinical series of congenital heart disease is 1- 2.4 %. HISTORY • First reported by Kreysig in 1817. • Clinical features reported by Bellet and Stewart in 1933. • Also by Taussig and Brown in 1936. EMBRYOLOGY • During early embryogenesis,the process of expansion of the inlet portion of the right ventricle coincides with development of the AV valves. • Failure of this process of inlet expansion is the pathogenetic mechanism for the usual muscular variety of tricuspid atresia. • The less common variety , with well formed but fused leaflets,occurs if the embryological insult occurs later in gestation. • If valve fusion is incomplete, tricuspid stenosis develops. ANATOMY • The most common type of tricuspid atresia is muscular . • It is characterized by a dimple or a localized fibrous thickening in the floor of the right atrium at the expected site of the tricuspid valve. • The muscular variety constitutes 89% of cases. • In the membranous type (6.6%), the atrioventricular portion of the membranous septum forms the floor of the right atrium at the expected location of the tricuspid valve. • This particular type appears to be associated with absent pulmonary valve leaflets. • Minute valvar cusps are fused together in the valvar type (1%). • In the Ebstein type (2.6%), fusion of the tricuspid valve leaflets occurs; attachment is displaced downward, and plastering of the leaflets to the right ventricular wall occurs. • The atrioventricular canal type is extremely rare (0.2%). -a leaflet of the common atrioventricular valve seals off the only entrance into the right ventricle. • The right atrium is enlarged and hypertrophied. • An interatrial communication is necessary for survival. • This communication most commonly is a stretched patent foramen ovale. • A true ASD is much less common and when present is almost always in the ostium secundum location. • Rarely, the patent foramen ovale is obstructive and may form an aneurysm of the fossa ovalis, which is sometimes large enough to produce mitral inflow obstruction • The left atrium may be enlarged, especially when the pulmonary blood flow is increased. • The mitral valve is morphologically normal; it is rarely incompetent and has a large orifice. • The left ventricle is enlarged and hypertrophied but usually morphologically normal • The right ventricle is small and hypoplastic. • In patients with a large VSD or TGA, the size of the right ventricle may be larger, but, even in these patients, the right ventricle is smaller than normal. VSD in tricuspid atresia • Associated VSD is common with TA, seen in about 90% of individuals during infancy. • Is usually perimembranous but also may occur in the muscular septum or as a component of an atrioventricular septal defect, although the latter is rare. • At birth the VSD is usually restrictive,permitting adequate but not excessive pulmonary blood flow . • This advantage is often lost, as 40% of these defects close spontaneously/ decrease in size”acquired pulmonary atresia” • The majority of defects close in the first yr of life. • These restrictive VSD’S cause subpulmonic obstruction in pts with normally related great arteries, and subaortic obstruction in pts with TGA. Classification Proposed by Kuhne and later modified Type 1 : normally related great arteries (70 – 80%) a. intact ventricular septum with pulmonary atresia( 9%) b. small ventricular septal defect and pulmonary stenosis( 51%) c. large ventricular septal defect without pulmonary stenosis ( 9%) Type ii : D-transposition of great arteries (12 – 25%) a. ventricular septal defect with pulmonary atresia( 2%) b. ventricular septal defect with pulmonary stenosis( 8%) c. ventricular septal defect without pulmonary stenosis(18%) Type 3 :L- Transposition or malposition of great arteries (3-6%) associated complex lesions, ie., truncus arteriosus, endocardial cushion defect ADDITIONAL CARDIOVASCULAR ABNORMALITIES- 20% • Coarctation of aorta – 8% • Persistent left SVC • Juxtaposition of atrial appendages-50% of TA with TGA. • Right aortic arch • Abnormalities of mitral apparatus- cleft in AML,malattachment of the valve,direct attachment of the mitral leaflets to papillary PHYSIOLOGY-TA WITH NRGA • Obligatory rt to left shunt at atrial level. • LA receives both the entire systemic and pulmonary venous return. • The entire mixture flows into the LV which is the sole pumping chamber for the pulmonary and systemic circulation. • When the great arteries are normally related,pulm artery blood flow is usually reduced as the restrictive VSD, is a zone of subpulmonic stenosis. • LV overload is curtailed but at the cost of cyanosis. • This is so in 90% of cases. In TGA • The VSD is almost always non-restrictive and pulmonary stenosis is usually absent. • Low PVR results in abundant pulmonary arterial blood flow. • Minimal cyanosis,marked LV volume overload. • If these pts have a restrictive vsd,or infundibular narrowing→diminished syst circulation→metabolic acidosis and shock. SEX PREDILECTION • Tr. Atresia with normally related great arteries have an equal frequency in males and females. • If TGA is present→male preponderance. • No male preponderance with juxtaposition of atrial appendages. GENETICS • Although specific genetic causes of the malformation remain to be determined in humans, the FOG2 gene may be involved in the process. • This has however been validated only in animal studies. • Familial recurrence is low , and recurrence in siblings is only about 1%. OVERALL ACTUARIAL SURVIVAL IN INFANTS WITH TRICUSPID ATRESIA • 1 year- 72%. • 5 years- 52%. • 10 years- 46% NATURAL HISTORY • Few infants with tr. Atresia and normally related gr . Arteries with an intact ventricular septum survive beyond 6 months of age without surgical palliation. • Intense hypoxia and death ensue unless the ductus is patent, or adequate systemic to PA collaterals are present , either of which are unlikely. TR. ATRESIA WITH NRGA AND SMALL VSD. • The VSD in such patients closes spontaneously or is excessively obstructive, so that majority of patients die by one year. • Rarely, a favorable balance is achieved b/w the presence of VSD and pulm . Blood flow , permitting survival from 2nd to 5th decades. TR. ATRESIA WITH NRGA AND LARGE VSD. • Pts with TA , normally related great arteries and large VSD do not fare well • Excessive pulmonary arterial flow results in vol. overload of LV and CCF. • Pts have lived to ages 4 to 6 years. • In exceptional cases, long survivals have been reported between ages 32 and 45 yrs. TR. ATRESIA WITH TGA • Same poor longevity patterns hold when TA occurs with complete transposition and large VSD. • TA with TGA with subaortic stenosis( restrictive VSD) is an ominous combination. • Exceptional survivals to mid-late teens have been recorder. • problems related to increased longevityI.E,brain abscess, paradoxical embolism Physical examination- appearance • Dysmorphic facies-occasionally “cat-eye” syndrome or congenital coloboma may be seen. JVP • Increase in the A wave amplitude , due to the restrictive interatrial communication. • Y descent is slow • In LVF, A and V waves increase in amplitude. Precordium • LV impulse without a RV impulse in a cyanotic patient. • A gentle RV impulse in pt with TA ,complete transposition and a well dev RV . • Palpable thrill if VSD is restrictive. AUSCULTATION • First heart sound is single . • Second usually single, but a soft delayed pulmonic component is occasionally present. • TA with normally related great arteries, prominent systolic murmur originates at the site of restrictive VSD – holosystolic, maximal at the mid to lower left sternal edge. TA with complete transposition and increased pulmonary blood flow • • • • • Holosystolic murmur – across VSD S2 – single but always loud S3 MDM 4th heart sounds are rare in any of the varieties of tricuspid atresia. Pulmonary vascular resistance – high • VSD murmur vanishes • Soft midsystolic murmur- anterior aortic root • Rarely, the loud second component from the dilated hypertensive posterior pulmonary trunk is heard. • TA with complete transposition, coexisting pulmonic or subpulmonic stenosis – midsystolic murmur – loudness and length vary inversely with degree of obstruction ECG • Tall peaked right atrial P waves are usually seen • Biatrial P – if left atrial volume is↑ due to ↑PBF. • PR interval- normal. • QRS axis – left and superior ( type 1 pts) • Absence of RV forces in precordial leads CHEST X-RAY-TA WITH NRGA AND SMALL VSD • • • • Pulmonary vascularity reduced. Pulmonary artery segment – inconspicuous. Heart size – normal. Right cardiac border, esp in LAO projection – superior convexity caused by enlargement of RA and its appendage. • Inferior border – flat or receding owing to absence of RV. • LAO – Humped appearance of right cardiac border and a prominent left cardiac silhouette TA with complete transposition and no obstruction • Lungs – plethoric • LV, LA, RA – enlarged • Right cardiac border seldom has distinctive hump-shaped contour – RV is relatively well developed Tr. Atresia with TGA TA with complete transposition and PS • Pulmonary blood flow is normal or reduced • Ascending aorta and pulmonary trunk are not border forming (narrow vascular pedicle) ECHOCARDIOGRAM • Presence of an imperforate linear echo density in the location of normal TV • Presence of two great arteries and semilunar valves • Confirm the presence and size of the interatrial communication. • Confirm the presence of a VSD. CARDIAC CATHETERIZATION • Limited role at present. • Therapeutic role for balloon atrial septostomy. • Prior to a Fontan for determining pulm.vascular resistance. HEMODYNAMIC DATA • In infants, the right atrial pressure is slightly higher than the left atrial pressure. • prominent ‘a ‘wave in the right atrium, especially if the interatrial communication is restrictive. • LV systolic and EDP – normal. • LVEDP may increase in patients with large VSD’s as PVR drops and left heart volume overload , ensues. INITIAL MEDICAL MANAGEMENT • PGE1, should be started in neonates with severe cyanosis to maintain patency of the ductus before cardiac catheterization or planned surgery • Balloon atrial septostomy may be carried out as part of the initial catheterization to improve the RA-LA shunt. SURGICAL CARE • Surgical management may be broadly grouped into palliative and corrective therapy. PALLIATIVE SURGERY DECIDED IN TERMS OF • decreased pulmonary flow • increased pulmonary flow • intracardiac obstruction. FOR ↓ PBF. • Pulmonary blood flow may be increased by surgical creation of an aortopulmonary shunt. • subclavian artery to ipsilateral pulmonary artery anastomosis by Blalock and Taussig in 1945 • Potts shunt (descending aorta–to–left pulmonary artery anastomosis), • Waterston-Cooley shunt (ascending aorta– to–right pulmonary artery anastomosis • central aortopulmonary fenestration or GoreTex shunt, • modified Blalock-Taussig shunt (Gore-Tex interposition graft between the subclavian artery and the ipsilateral pulmonary artery), • Glenn shunt (superior vena cava–to–right pulmonary artery anastomosis, end-to-end), ↑ PBF • In patients with tricuspid atresia type II , pulmonary artery banding should be performed following stabilization with anticongestive measures. CORRECTIVE SURGERY • Fontan and Kreutzer- initial description of the physiologically corrective operation for tricuspid atresia • Complete separation of the systemic and pulmonary circuits CHOUSSAT CRITERIA • Age at operation – 4 and 15 yrs( not strictly followed nowadays) • Normal sinus rhythm • Normal systemic venous connections • Normal right atrial size • Normal pulmonary arterial mean pressure ( mean >= 15 mm Hg) • Low pulmonary vasc resistance (4 woods units/m2) • Adequate sized pulm. Arteries with diameter > 75% of aortic diameter. • Normal LVEF (>60%)( rel. contraindication) • Absence of MR( relative contraindication) • Absence of complicating factors from prev ious surgeries EARLY COMPLICATIONS OF FONTAN LATE COMPLICATIONS OF FONTAN • Low cardiac output,heart failure or both . • Persistent pleural effusion. • Thrombus formation in the systemic venous pathways. • Liver dysfunction • Hepatomegaly and ascites. • Supraventricular arrythmias. • Progressive decrease in oxygen saturation( obstn. of venous pathways, leakage in intra- atrial baffle, dev of pulm av fistula.). • Protein losing enteropathy • THANK YOU.