Updated 7/2/2024
ADULT CONGENITAL HEART DISEASE
FELLOW RESPONSIBILITIES:
Review the Learning Objectives prior to starting the rotation - link above
Meet with Jilian Sachs and nurses prior to starting the rotation - Jilian will contact you
Round on and discuss inpatient consults with ACHD attendings
Work with the ACHD fellow on the consult rotation with you
Attend ACHD Clinics - Jilian sends out the weekly schedule by email
Go to the cath lab to observe ACHD cases
Present at ACHD conference - Thursdays at 7 am
Discuss with attending ACHD and ACHD fellow in advance
Review relevant imaging for ACHD patients
ROTATION SCHEDULE:
Daily 8a-5p coverage for inpatient consults
Other activities:
ACHD outpatient clinic: Refer to schedule send out by Jilian
Pulmonary Hypertension, Marfan's, HCM, Vascular Surgery clinics: may or may not be part of your ACHD block, refer to the schedule sent out by Jilian
Thursday ACHD Case Conference - 7am, reminder emails usually sent prior
Read ACHD echocardiograms on afternoons that you do not have clinic scheduled
SELF-DIRECTED LEARNING:
Review the Boston Children’s Specific Lesions online handbook
Review a series of classic echos with findings you should be able to recognize and diagnose - search Xcelera for "ACHD"
2018 AHA/ACC Guidelines for Management of Adults With Congenital Heart Disease
Download the Heartpedia mobile app for an overview of some of the more congenital defects with fantastic illustrations of anomalies and repair
Canadian Adult Congenital Heart Network (CACHNET)
Textbooks
Diagnosis and Management of Adult Congenital Heart Disease, Gatzoulis, Webb and Daubeney, editors (Fellows' room, Stout’s office, online access)
Braunwald’s Heart Disease (on MD Consult)
Park’s Pediatric Cardiology Handbook (MD Consult, Fellows' room)
Moss and Adams’ Heart Disease in Infants, Children and Adolescents (Stout’s office)
KEY CONCEPTS:
Normal blood flow is needed to develop downstream structures normally (i.e. tricuspid atresia results in a hypoplastic right ventricle because blood can't get there)
All flow is dependent on the balance between pulmonary and systemic vascular resistance and chamber pressures – blood is lazy
Pulmonary vascular resistance is important in deciding further therapy/surgery
Disproportionate blood flow between the systemic and pulmonic systems places excessive stress on the heart and can result in chamber enlargement and heart failure.
Excessive pulmonary flow may result in pulmonary hypertension and, eventually, a permanent increase in pulmonary vascular resistance
Know the difference between palliated (i.e. arterial or venous shunts) vs. physiologic repair
Know patients may have been palliated initially, then repaired at a later date, with the palliative shunt “taken down” at the time of repair
Operative history and dates are important in figuring out what surgery was performed- always find the original operation report if possible
Arrhythmias are often related to surgical scars or hemodynamic changes, therefore thorough evaluation is usually needed in the case of new or worsening arrhythmias
Systems-based multidisciplinary care is critical to the care of patients with Congenital Heart Disease (obstetrics, genetics, electrophysiology, heart failure/transplant, cardiothoracic surgery, palliative care, hepatology, social work…. etc etc etc)
IMPORTANT TERMS TO KNOW
Atrial Septal Defect (ASD): An inter-atrial communication, classified according to its location relative to the oval fossa (fossa ovalis)
Atrial switch (Mustard or Senning): A procedure to redirect venous return to the contralateral ventricle. When used in complete transposition of the great arteries (either the Mustard or the Senning procedure) this accomplishes physiologic correction of the circulation, while leaving the right ventricle to support the systemic circulation
Atrioventricular Septal Defect (AVSD): A group of anomalies resulting from a deficiency of the atrioventricular septum which have in common: 1) a common atrioventricular junction with a common fibrous ring, and a unique, 5-leaflet, atrioventricular valve; 2) unwedging of the aorta from its usual position deeply wedged between the mitral and tricuspid valves; 3) a narrowed subaortic outflow tract; 4) disproportion between the inlet and outlet portions of the ventricular septum. Echocardiographic recognition is aided by the observation that "left" and "right" A-V valves are located in the same anatomic plane. Included in this group of conditions are anomalies previously known as (and often still described as) ostium primum ASD (partial AVSD), "cleft" anterior mitral and/or septal tricuspid valve leaflet, inlet VSD, and complete AVSD ("complete A-V canal defect"). An older, obsolete, term describing such a defect is "endocardial cushion defect".
Baffle: A structure surgically created to divert blood flow. For instance, in atrial switch operations for complete transposition of the great vessels, an intra-atrial baffle is constructed to divert systemic venous return across the mitral valve thence to LV and pulmonary artery, and pulmonary venous return across the tricuspid valve thence to RV and aorta. see also Mustard procedure. see also Senning procedure.
Blalock-Taussig-Thomas Shunt (BT/BTT shunt): A palliative operation for the purpose of increasing pulmonary blood flow, hence systemic oxygen saturation. It involves creating an anastomosis between a subclavian artery and the ipsilateral pulmonary artery either directly with an end-to-side anastomosis (classical) or using an interposition tube graft (modified).
Congenitally Corrected Transposition of the Great Arteries (CCTGA, aka L-TGA): syn cc-TGA; l-transposition; l-TGA; atrioventricular discordance with ventriculoatrial discordance, double discordance. An anomaly wherein the aorta arises from the right ventricle and the pulmonary artery from the left ventricle, and, in addition, the atrioventricular connection is discordant such that the right atrium connects to the left ventricle and the left atrium connects to the right ventricle. There are usually associated anomalies, the most common being VSD, pulmonic stenosis, and/or a hypoplastic ventricle. The right ventricle supports systemic circulation. Think two wrongs make a right – blood flow ends up where it should, but with the wrong ventricle pumping it there.
Double Switch Procedure: An operation used in patients with l-transposition of the great arteries (l-TGA; congenitally corrected transposition of the great arteries; cc-TGA) and also in patients who have had a prior Mustard or Senning atrial switch operation for complete transposition of the great arteries (d-TGA). It leads to anatomic correction of the ventricle to great artery relationships such that the left ventricle supports systemic circulation. It includes an arterial switch procedure (see Jatene operation) in all cases, as well as an atrial switch procedure (Mustard or Senning) in the case of l-TGA, or reversal of the previously done Mustard or Senning procedure in the case of d-TGA.
Ebstein Anomaly: An anomaly of the tricuspid valve in which the basal attachments of both the septal and the posterior valve leaflets are displaced apically within the RV. Apical displacement of the septal tricuspid leaflet of 8mm/M2 is diagnostic (the extent of apical displacement should be indexed to body surface area). Abnormal structure of all three leaflets is seen, with the anterior leaflet typically large with abnormal attachments to the right ventricular wall. The pathologic and clinical spectrum is broad and includes not only valve abnormalities but also myocardial structural changes in both ventricles. Tricuspid regurgitation is common, tricuspid stenosis occurs occasionally, and right-to-left shunting through a patent foramen ovale or atrial septal defect is a regular but not invariable concomitant. Other congenital lesions are often associated, such as VSD, PS, and/or accessory conduction pathways.
Eisenmenger syndrome: An extreme form of pulmonary vascular obstructive disease arising as a consequence of pre-existing systemic to pulmonary shunt, wherein pulmonary vascular resistance rises such that pulmonary pressures are at or near systemic levels and there is reversed (right to left) or bi-directional shunting at great vessel, ventricular, and/or atrial levels.
Fontan Procedure: A palliative operation for patients with a univentricular circulation, involving diversion of the systemic venous return to the pulmonary artery usually without the interposition of a sub-pulmonary ventricle. There are many variations, all leading to normalization of systemic oxygen saturation and elimination of volume overload of the functioning ventricle.
Heterotaxy: From the Greek “different arrangement”. A syndrome of abnormal right-left relationship, which can include isomerism, transposition, and abnormal venous return. As with isomerism, splenic abnormalities are common and situs may not be normal. Cardiac abnormalities vary but are typically significant.
Glenn Operation: A palliative operation for the purpose of increasing pulmonary blood flow, hence systemic oxygen saturation, in which a direct anastomosis is created between the superior vena cava and a pulmonary artery. Similar in principle to a Blalock Taussig shunt in alleviating cyanosis, but it does so without causing pulmonary hypertension or systemic ventricular volume overload. Requires that pulmonary vascular resistance be low.
Classic Anastomosis of the SVC to the distal end of the divided right pulmonary artery with division/ligation of the SVC below the anastomosis. Acquired pulmonary AV malformations with associated systemic arterial desaturation are a common long-term complication
Bi-directional End-to-side anastomosis of the divided SVC to the undivided pulmonary artery. “Bidirectional” because blood flow goes to the right and left pulmonary arteries, rather than just right PA as with Classic Glenn.
Hypoplastic Left Heart Syndrome (HLHS): A heterogeneous syndrome with a wide variety and severity of manifestations involving hypoplasia, stenosis, or atresia at different levels of the left heart including the aorta, aortic valve, left ventricular outflow tract, left ventricular body, mitral valve and left atrium. Management in the neonatal period and surgical repair are difficult, therefore relatively new success in survival. Few adults with HLHS, but anticipate adults with HLHS over the next 5-10 years.
Isomerism: Paired, mirror image sets of normally single or non-identical organ systems (atria, lungs, and viscera), often associated with other abnormalities.
Right isomerism syn. asplenia syndrome. Congenital syndrome consisting of paired morphologically right structures: absence of the spleen, bilateral right bronchi, bilateral tri-lobed (right) lungs, two morphologic right atria, multiple anomalies of systemic and pulmonary venous connections, and other complex cardiac and non-cardiac anomalies.
Left isomerism syn. polysplenia syndrome. A congenital syndrome consisting of paired, morphologically left structures: multiple bilateral spleens, bilateral left bronchi, bilateral bilobed (left) lungs, midline liver, two morphologic left atria, complex congenital heart disease, and other associated non-cardiac malformations.
Jatene procedure: syn. arterial switch procedure. An operation used in complete transposition of the great arteries, involving removal of the aorta from its attachment to the RV, and of the pulmonary artery from the LV, and the reattachment of the great arteries to the contralateral ventricles, with reimplantation of the coronary arteries into the neo-aorta. As a consequence, the left ventricle supports systemic circulation.
Konno procedure: Repair of tunnel-like subvalvular LVOTO by aortoventriculoplasty. The operation involves enlargement of the LV outflow tract by inserting a patch in the ventricular septum, as well as aortic valve replacement and enlargement of the aortic annulus and ascending aorta.
Lateral tunnel Fontan: IVC flow is directed by a baffle within the right atrium into the lower portion of the divided SVC or the right atrial appendage, which is connected to the pulmonary artery. The upper part of the SVC is connected to the superior aspect of the pulmonary artery as in the bi-directional Glenn procedure. The majority of the right atrium is excluded from the systemic venous circuit. syn. total cavo-pulmonary connection (TCPC)
Norwood procedure: A multistage operation for hypoplastic left heart syndrome. A systemic to pulmonary arterial shunt is created, followed by a staged Fontan-type operation (usually via a hemi-Fontan procedure) resulting in single ventricle physiology. The morphologic right ventricle supports systemic circulation.
Persistent Left Superior vena cava (LSCV): Persistence of the left anterior cardinal vein (which normally obliterates during embryogenesis) results in persistent left SVC. LSVC drains via the coronary sinus to the right atrium in more than 90% of patients; rarely, it may directly drain to the left atrium in association with other congenital heart defects (e.g., isomerism). Its prevalence is up to 0.5% in the general population, and higher in patients with congenital heart disease.
Primum ASD: Part of the spectrum of atrioventricular septal defect (AVSD). Located anterior and inferior to the oval fossa such that there is no atrial septal tissue between the lower edge of the defect and the atrioventricular valves that are located on the same plane; almost always associated with a "cleft" in the "anterior mitral leaflet". This cleft is actually the separation between the left-sided portions of the primitive anterosuperior and posteroinferior bridging leaflets.
Rastelli procedure: An operation for repair of complete transposition of the great arteries in association with a large VSD and pulmonic stenosis, wherein communication is established between the LV and the aorta via the VSD using a baffle within the RV. The RV is connected to the pulmonary artery using a valved conduit, and the LV-PA connection is obliterated. As a consequence, the left ventricle supports systemic circulation.
Ross procedure: A method of aortic valve replacement involving autograft transplantation of the pulmonary valve, annulus, and trunk into the aortic position, with reimplantation of the coronary ostia into the neo-aorta. The RVOT is reconstructed with a homograft conduit.
Secundum ASD: Located at the level of the oval fossa
Senning procedure: An operation for complete transposition of the great arteries in which venous return is directed to the contralateral ventricle by means of an atrial baffle fashioned in situ by using the right atrial wall and interatrial septum. As a consequence, the right ventricle supports systemic circulation. A type of “atrial switch” operation. see also Mustard procedure.
Sinus Venosus ASD: A communication located posterosuperior (or rarely posteroinferior) to the oval fossa, commonly associated with partial anomalous pulmonary venous connection (most often right pulmonary veins, especially the right upper pulmonary vein in association with a posterosuperior defect), which is functionally identical to an atrial septal defect, but properly named a sinus venosus defect because it occurs due to abnormal development of the sinus venosus in relation to the pulmonary veins and is not a defect in the interatrial septum. The caval vein overrides the rim of the fossa ovalis leading to biatrial communication, a characteristic anatomical feature.
Situs Inversus: Mirror-image sidedness, i.e. opposite of normal. Left-sided morphologic right atrium.
Situs Solitus: Normal sidedness. Right-sided morphologic right atrium.
Total Anomalous Pulmonary Venous Connection (TAPVC): All pulmonary veins connect to the right side of the heart, either directly or via venous tributaries. The connection may be supradiaphragmatic, usually via a vertical vein to the innominate vein or the SVC. The connection may also be infradiaphragmatic via a descending vein to the portal vein, the IVC, or one of its tributaries. Pulmonary venous obstruction is common in supradiaphragmatic connection, and almost universal in infradiaphragmatic connection.
Transposition of the Great Arteries (D-TGA): syn classic transposition; d-transposition; d-TGA; atrioventricular concordance with ventriculoatrial discordance. The aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle.
Tetralogy of Fallot (TOF): A congenital anomaly, the primary pathophysiologic components are due to obstruction to RV outflow at the infundibular level and a large non-restrictive VSD. The other two components of the “tetralogy” are an overriding aorta and concentric RVH. Valvular RVOTO (pulmonic stenosis) and distal pulmonary artery stenosis are often present. The essential morphogenetic anomaly is malalignment of the infundibular (outlet) septum such that it fails to unite with the trabecular septum (hence the VSD) due to anterior deviation (hence the RV outflow tract obstruction).
Ventricular Septal Defect (VSD): A defect in the ventricular septum, such that there is direct communication between the two ventricles.
Doubly-committed VSD: A defect in the outlet septum such that there is fibrous continuity between the aortic and pulmonary valves, with the VSD situated directly beneath both semi-lunar valves.
Inlet VSD: A defect in the lightly trabeculated inlet portion of the muscular IV septum, typically seen as part of an A-V septal defect.
Muscular VSD A defect entirely surrounded by muscular IV septum.
Non-restrictive VSD A defect of such a size that there is no significant pressure gradient between the ventricles. Hence the pulmonary artery is exposed to systemic pressure unless there is RV outflow tract obstruction.
Outlet VSD A defect in the non-trabeculated outlet portion of the muscular IV septum, hence above the crista ventricularis. syn. supracristal VSD. Sometimes also described as subpulmonary, subarterial, or doubly committed subarterial VSD.
Perimembranous VSD A VSD located in the membranous portion of the IV septum with variable extension into the contiguous portions of the inlet, trabecular, or outlet portions of the muscular septum, but not involving the A-V septum. syn. membranous VSD; infracristal VSD.
Restrictive VSD A defect of small enough size that there is a pressure gradient between the ventricles, such that the pulmonary ventricle (hence pulmonary vasculature) is protected from the systemic pressure of the contralateral ventricle.
Trabecular VSD A defect in the heavily trabeculated central or trabecular portion of the muscular IV septum. May be multiple.
Waterston shunt: A palliative operation for the purpose of increasing pulmonary blood flow, hence systemic oxygen saturation, which involves creating a small communication between the main pulmonary artery and the ascending aorta. Often complicated by the development of pulmonary vascular obstructive disease if too large. Not uncommonly caused distortion of the pulmonary artery.