See Chapter 32.

Cardiac Diseases Are Better Understood by Comparing Individual Patients’ Physiologies with Basic Pathophysiologic Schemas. Sometimes the Physiology Is More Complex, Bridging Multiple Categories.

1. 
   

   Myocardial dysfunction

   
   
   
   
   • Examples: Myocarditis, cardiomyopathies
     
   • Systolic (contraction) and diastolic (relaxation) dysfunction may be present in combination or separately. Cardiac output is limited because of ventricular dysfunction.
     
   • Signs and symptoms: Tachypnea, orthopnea, respiratory distress, poor perfusion, hepatomegaly, vomiting, anorexia.
     
   • Treatment (systolic dysfunction): Afterload reduction (ACE inhibitors), β-blockers, or both. Diuretic therapy helpful for volume overload. IV inotropic support may be necessary for severe, acute symptoms or end-organ dysfunction.
   
   
   
   
2. 
   

   Volume overload

   
   
   
   
   • Examples: ASD, VSD, CAVC, PDA, unobstructed TAPVC, truncus arteriosus, single ventricle with ↑ pulmonary blood flow.
     
   • L → R shunting causes excess pulmonary blood flow (pulmonary overcirculation).
     
   • Symptoms depend on the degree of increase of pulmonary blood flow and in extreme cases may lead to decreased systemic blood flow (end organ hypoxia → lactic acidosis and multisystem organ failure). These derangements are reflected in the Qp:Qs ratio (the ratio of pulmonary blood flow to systemic blood flow.) The Qp:Qs ratio is influenced by the size of the defect, the difference between SVR and PVR, and the relative location of the dominant shunt (before or after the tricuspid valve).
     
   • Signs and symptoms: Tachypnea, retractions, feeding difficulties, failure to thrive, diaphoresis, poor perfusion. Left-sided obstructive lesions (eg, coarctation of the aorta) must be excluded, particularly in patients who present with symptoms in the first few days of life.
     
   • Treatment: Definitive treatment is through surgical or transcatheter correction. Temporizing measures include diuretics, avoidance of oxygen therapy (a potent pulmonary vasodilator), optimization of hemoglobin to improve systemic O2 delivery, permissive hypercapnia to induce pulmonary vasoconstriction (if intubated), infusions to increase cardiac output (IV inotropic agents and vasodilators).
   
   
   
   
3. 
   

   Obstruction to systemic blood flow

   
   
   
   
   • Examples: Aortic valve stenosis, coarctation of the aorta, interrupted aortic arch, HLHS.
     
   • Obstruction causes increased afterload (ventricular pressure overload). In the most extreme cases, this reduces cardiac output (critical obstruction).
     
   • Systemic blood flow may be ductal dependent.
     
   • Signs and symptoms: Poor perfusion, weak pulses, metabolic acidosis, shock, respiratory failure; may be confused with neonatal sepsis.
     
   • Management: Early diagnosis, rapid intervention to restore systemic blood flow (PGE1, surgery, catheter-based intervention), mechanical ventilation, inotropic agents.
   
   
   
   
4. 
   

   Obstruction to pulmonary blood flow

   
   
   
   
   • Examples: Pulmonary valve stenosis, pulmonary atresia, TOF.
     
   • Decreased pulmonary blood flow may also be seen with pulmonary venous obstruction.
     
   • Obstructed or diminished pulmonary blood flow may result in R → L shunting and systemic desaturation.
     
   • Pulmonary circulation may be ductal dependent.
     
   • Signs and symptoms: Cyanosis, hyperpnea, seizures, or shock if severely cyanotic (rare).
     
   • Treatment: PGE1, minimize RV outflow tract obstruction in TOF (sedation, increase preload, ± β-blocker, avoid inotropes), surgical or catheter-based intervention. In extreme cases when a definitive approach to increase pulmonary blood flow is not possible, maneuvers to increase SVR (eg, phenylephrine), minimize PVR (supplemental O2, sedation ± paralytic, lung recruitment, alkalinization with IV bicarbonate) should be used.
   
   
   
   
5. 
   

   Transposition or parallel circulation

   
   
   
   
   • Example: d-TGA
     
   • Pulmonary and systemic circulations are in parallel, with deoxygenated blood returning to the aorta and oxygenated blood recirculating to the lungs. Patients with TGA depend on “mixing” between the systemic and pulmonary circulations to allow oxygenated blood to reach the systemic circulation.
     
   • Signs and symptoms: Cyanosis (often severe), tachypnea, shock if severely cyanotic.
     
   • Treatment: Assist mixing with PGE1 or balloon atrial septostomy, optimize systemic output (adequate preload and hemoglobin, inotropic support), minimize pulmonary edema (diuresis, optimize lung recruitment).
   
   
   
   
6. 
   

   Single-ventricle physiology

   
   
   
   
   • Single-ventricle anatomy exists when one ventricle is either absent or hypoplastic (eg, HLHS, tricuspid atresia). Single-ventricle physiology refers to complete mixing of the systemic and pulmonary venous return, and when the ratio of systemic to pulmonary blood flow is determined by the relative systemic and pulmonary vascular resistances (may exist with two normal-sized ventricles that function as a single ventricle).
     
   • The systemic oxygen saturation (SaO2) in patients with single-ventricle physiology depends on:
     
     
     
     • The relative balance between pulmonary and systemic blood flow (Qp:Qs).
       
     • The effectiveness of pulmonary gas exchange (pulmonary venous saturation).
       
     • The systemic venous saturation, which in turn is influenced by the cardiac output, hemoglobin, and the patient’s metabolic demand.
     
     
   • Patients may be ductal dependent for either pulmonary or systemic blood flow or may not be ductal dependent.
     
   • Treatment: The combined cardiac output (Qp + Qs) has finite limits. In the native state, without intervention or therapy, there is typically an imbalance with critically limited Qp or critically limited Qs, sometimes with excessive Qp. Strategies aim at balancing the pulmonary and systemic blood flow (Qp:Qs) to support the oxygen delivery and blood flow to vital organs.
   
   

Congenital heart diseases are the most common birth defects, with a frequency of approximately 8 in 1000 liveborn children.

Acyanotic Heart Disease

Atrial Septal Defect (ASD)

• Ostium secundum: Deficiency in the septum primum that normally covers the ostium secundum; 70% of ASDs.
  
• Ostium primum: A type of AV septal defect; 20% of ASDs.
  
• Sinus venosus: Located at cavoatrial junction (SVC or IVC); 10% of ASDs; associated with partial anomalous pulmonary venous drainage.
  
• Physiology: Left-to-right shunt, pulmonary overcirculation, right heart dilation.
  
• Presentation: Typically asymptomatic in childhood; possibly mild exercise intolerance.
  
• Physical exam: Fixed split S2 (caused by low pulmonary impedance); SEM LUSB (pulmonary flow).
  
• CXR: Cardiomegaly if the RV is significantly enlarged; dilated central PAs, typically without pulmonary edema.
  
• EKG: Classically, rSR’ in V1; may have RAD or RVH.
  
• Treatment: Pharmacologic therapy is rarely needed. Small or moderate secundum defects detected in neonates often close spontaneously. If there is a persistent shunt and right heart volume overload, the ASD should be closed electively.

Ventricular Septal Defect (VSD)

• Prevalence: Most common form of CHD other than bicuspid aortic valve; 20% of all CHD (frequency in population, ∼0.2%–0.4%).
  
• Location: Perimembranous (80%), muscular (5%–20%), supracristal (5%–8% in the United States), and inlet muscular (often classified with AV septal defects).
  
• Physiology: Left-to-right shunt; magnitude depends on the size of the defect, pulmonary overcirculation; left heart dilatation.
  
• Presentation: Depends on the magnitude of the shunt; small defects are typically asymptomatic but large defects in infants (increasing shunt as PVR drops) result in tachypnea, FTT, and poorly tolerated lower respiratory tract infections; older children manifest exercise intolerance.
  
• Physical exam: Relatively small (restrictive) VSDs have a typical holosystolic murmur, plateau in quality, loudest LLSB, may have a thrill; moderate VSDs may have diastolic rumble (increased flow from the left atrium into the LV, typically indicating Qp:Qs over 2:1); large, unrestrictive VSDs may have only soft pulmonary flow murmur but a prominent gallop and hyperactive precordium.
  
• CXR: Cardiomegaly, increased pulmonary vascular markings and/or pulmonary edema in moderate to large shunts, normal CXR for small shunts.
  
• EKG: LVH for moderate to large shunts. If RVH is present, consider RV outflow obstruction or increased PVR.
  
• Treatment:
  
  
  
  • Definitive treatment: Surgical closure (or transcatheter closure), which is indicated for unrestrictive, large defects, symptoms, aortic valve distortion, or persistent cardiomegaly. Smaller defects may close spontaneously, particularly muscular VSDs.
    
  • Temporizing or medical therapy: Diuretics + afterload reduction, caloric supplementation for moderate to large shunts.

Atrioventricular Septal Defect (AV Canal) (eFigure 8-1)

• Results from incomplete fusion of endocardial cushions
  
• Complete: Primum ASD, inlet VSD, and a common AV valve spanning the inlets to both ventricles
  
• Partial: Ostium primum ASD with cleft mitral valve.
  
• Frequently associated with Down syndrome
  
• Physiology: Large left-to-right shunt, pulmonary overcirculation, left and right heart dilation
  
• Presentation: Tachypnea, FTT, worsens as PVR drops
  
• Physical exam
  
  
  
  • Complete AV canal with large VSD component: Hyperdynamic precordium, holosystolic murmur from AV valve regurgitation, diastolic rumble at apex
    
  • Primum ASD: Similar to other ASDs but may have holosystolic murmur of left AV valve regurgitation
  
  
• CXR: Cardiomegaly, increased pulmonary vascular markings for moderate to large shunts
  
• EKG: LAD or NW axis; rSR’ in V1, first-degree heart block common
  
• Treatment: Medical therapy is the same as for VSD; surgery in the first 6 to 8 months of life (or when symptomatic despite medical therapy)

Patent Ductus Arteriosus (PDA) (Also See Chapter 32)

• Common in premature infants
  
• Physiology: Left-to-right shunt, pulmonary overcirculation, left heart dilatation
  
• Presentation
  
  
  
  • Moderate to large shunts: Tachypnea, FTT, pulmonary hemorrhage in premature infants
    
  • Small shunts: Asymptomatic
  
  
• Physical exam: For moderate to large shunts, hyperdynamic precordium, bounding pulses with widened pulse pressure, continuous “machinery” murmur loudest under the left clavicle; possibly only a soft murmur if the PDA is very large; tiny PDAs may be inaudible
  
• CXR: Cardiomegaly, increased pulmonary vascular markings in moderate to large shunts (normal for small shunts)
  
• EKG: Typically normal; LVH ± RVH if a large shunt is present
  
• Treatment: Indomethacin or surgery for neonates; transcatheter closure or surgery for most other patients

Coarctation of the Aorta

• Definition: Narrowing of aortic arch, typically in the juxtaductal position.
  
• Prevalence: Male > female; associated with Turner syndrome.
  
• Physiology: Left heart obstruction, hypertension, decreased renal and splanchnic flow in neonates.
  
• Presentation: Infants are symptomatic with tachypnea, decreased perfusion, and shock. Older children are often asymptomatic with murmur and upper extremity hypertension and decreased lower extremity pulses.
  
• Physical exam: The cardinal finding is absent or decreased lower extremity pulses with brachiofemoral delay, upper extremity BP > lower extremity BP (normally lower extremity equal or greater caused by pulse-wave amplification phenomenon); SEM over the back and left chest.
  
• CXR: Cardiomegaly in infants with CHF, “sign of 3” caused by aortic indentation with distal dilation; rib notching in older children.
  
• EKG: RVH in infants; LVH in older children.
  
• Treatment: Neonates can present in extremis → start PGE1; primary therapy is intervention (surgery or transcatheter balloon dilatation ± stenting).

Aortic Valve Stenosis (as)

• Bicuspid aortic valve (most common congenital heart malformation); typically asymptomatic into adulthood.
  
• Presentation: Depends on the severity; critical AS in neonates with shock; older patients are asymptomatic with a murmur; rarely, syncope or sudden death occurs with exercise.
  
• Physical exam: SEM RUSB and LLSB; radiates to carotids; delayed pulse upstroke; systolic ejection click radiating to apex; neonatal AS may have gallop.
  
• CXR: Dilatation of ascending Ao ± prominence of the LV.
  
• EKG: Normal or LVH ± strain.
  
• Treatment: PGE1 for neonates with critical AS followed by balloon or surgical valvuloplasty. For older children and young adults, balloon valvuloplasty is the primary choice unless significant aortic valve insufficiency is present.

Pulmonary Valve Stenosis (PS)

• Presentation: Typically asymptomatic with murmur when mild to moderate; cyanosis in neonatal period if severe (ie, “critical” pulmonary stenosis, associated with right-to-left atrial shunt ± ductal dependency)
  
• Physical exam: RV tap, SEM at LUSB, systolic ejection click at LUSB softer with inspiration, widely (but not fixed) split S2
  
• CXR: Normal, may have dilation of MPA segment in older children; decreased pulmonary vascular markings only in neonates with critical PS
  
• EKG: Normal with mild obstruction; RVH for moderate obstruction with strain if severe
  
• Treatment: Observation for mild PS; transcatheter balloon valvuloplasty for moderate to severe PS

Cyanotic Heart Disease

Tetralogy of Fallot (TOF) (eFigure 8-2)

• Tetrad: RVH, VSD, overriding aorta, and RVOT obstruction. All four findings are caused by anterior superior deviation of the conotruncal septum.
  
• Most common form of cyanotic heart disease presenting beyond the first week of life.
  
• Hypercyanotic episodes (“Tet spells”): Acute desaturation from worsening RVOT obstruction (dehydration) or decrease in SVR (fever, hypoxemia) leading to decreased pulmonary blood flow.
  
• Physiology: Ventricular level shunting (RV blood → aorta), decreased pulmonary blood flow.
  
• Presentation: Murmur, progressive cyanosis (including hypercyanotic spells); degree of cyanosis depends on severity of RVOT obstruction; if very severe. RVOT obstruction may be ductal dependent for pulmonary blood flow.
  
• Physical exam: RV tap, SEM left midsternal border (from RVOT obstruction, not from VSD), classically murmur decreases during tet spells.
  
• CXR: “Coeur en sabot” with hypertrophied RV and absence of the MPA segment; look for right aortic arch (common association).
  
• EKG: RAD and RVH.
  
• Treatment: PGE1 for severely cyanotic neonates (ductal-dependent pulmonary circulation); β-blockers may decrease the likelihood of tet spells; surgical repair is typically done in the first few months of life. Some severely cyanotic neonates are first palliated with a BT shunt prior to complete repair.
  
• Treatment for Tet spells: Knee–chest position, calm infant, morphine, volume resuscitation, oxygen, β-blockers (eg, esmolol infusion), phenylephrine, ketamine ± paralysis and general anesthesia, emergency surgery

D-Transposition of the Great Arteries (TGA) (eFigure 8-3)

• The aorta arises from the RV, and the PA arises from the LV (ventriculoarterial discordance).
  
• Most common form of cyanotic heart disease diagnosed in the first week of life; boys are affected more often than girls.
  
• Physiology: Circulations in parallel; requires mixing.
  
• Presentation: Cyanosis in the first hours of life without respiratory distress.
  
• Physical exam: Often nonspecific; typically no murmur; prominent S2 (anterior aorta, closer to the chest wall).
  
• CXR: “Egg on a string” but more commonly nonspecific with increased or normal pulmonary vascular markings.
  
• EKG: RAD and RVH; may be normal.
  
• Treatment: PGE1, balloon atrial septostomy, arterial switch operation early in life.

Total Anomalous Pulmonary Venous Return (TAPVR) (eFigure 8-4)

• All pulmonary veins drain into the systemic veins or RA.
  
• Four types: Supracardiac (drain via innominate vein or SVC; ∼50%), cardiac (coronary sinus or right atrium; 25%), infracardiac (IVC, typically via portal system; 20%), mixed (5%).
  
• Unobstructed veins are more common, but all types may become obstructed (most likely in infracardiac type).
  
• Physiology: Complete mixing, obligate right–to-left shunt at the atrial level.
  
• Presentation: Tachypnea; if obstructed: severe cyanosis, pulmonary hypertension, and shock.
  
• Physical exam: RV tap, may have faint SEM LUSB (similar to ASD), ± gallop, ± loud P2.
  
• EKG: RAD, RAE and RVH.
  
• CXR: Typically in obstructed TAPVC, the heart size is normal early, with pulmonary edema. Classic “snowman” sign is a late finding of unobstructed supracardiac TAPVR (dilated vertical vein → innominate vein → SVC).
  
• Treatment: Surgery required; if obstructed, it is a surgical emergency; if unobstructed, surgery can be delayed for weeks to months.

Truncus Arteriosus (eFigure 8-5)

• Single semilunar valve (truncal valve) and single blood vessel arising from the heart gives rise to systemic, pulmonary, and coronary circulations; this is caused by a lack of conotruncal septation.
  
• The truncal valve typically overrides the VSD.
  
• Physiology: Left–to-right and right-to-left shunt; increased pulmonary blood flow.
  
• Presentation: Tachypnea, FTT, often several weeks after birth; the degree of cyanosis (usually mild) depends on the degree of pulmonary edema and the size of the PAs.
  
• Physical exam: RV tap, loud single S2, systolic ejection click, ± murmur increased flow across a single semilunar valve and truncal valve stenosis (systolic) or regurgitation (diastolic), wide pulse pressure.
  
• CXR: Cardiomegaly, increased PVM, absence of MPA segment, absent thymus (DiGeorge syndrome), R aortic arch is common.
  
• EKG: RVH or BVH; may have ischemic changes if diastolic runoff and systemic “steal” is significant.
  
• Treatment: High risk for NEC preoperatively, so must be cautious with enteral feeding; complete repair is done during the first few weeks of life.

Tricuspid Atresia (eFigure 8-6)

• Wide range of anatomic arrangements based on the great artery relationship (sometimes associated with TGA) and the degree of pulmonary stenosis.
  
• Most common is normally related great arteries with pulmonary stenosis.
  
• Physiology: Complete mixing; obligate right-to-left shunt at the atrial level.
  
• Presentation: The degree of cyanosis depends on severity of pulmonary outflow tract obstruction.
  
• Physical exam: SEM LUSB (from PS; variable, depending on the magnitude of pulmonary blood flow).
  
• EKG: LAD, RAE, possibly LVH.
  
• CXR: RA dilation, ± cardiomegaly, PVM depend on the degree of pulmonary outflow tract obstruction.
  
• Treatment: Single-ventricle palliation pathway. May require BTS (and PGE1 preoperatively) for ↓ PBF, or PAB for ↑ PBF.

Hypoplastic Left Heart Syndrome (HLHS) (eFigure 8-7)

• Spectrum from severe mitral and aortic stenosis to mitral and aortic atresia, LV hypoplasia, coarctation, and subtypes of RV dominant AV septal defects.
  
• Boys are more often affected than girls. In girls, commonly associated with Tumer syndrome.
  
• Physiology: Ductal-dependent systemic circulation; obligate left-to-right shunt at the atrial level.
  
• Presentation: Mild or no cyanosis at birth, progressing to tachypnea, poor perfusion, shock, and cardiovascular collapse with PDA closure, causing systemic hypoperfusion.
  
• Physical exam: Single S2, RV tap, progressing to gallop; poor perfusion; pallor; weak pulses.
  
• CXR: Variable cardiomegaly; increased pulmonary vascular markings.
  
• EKG: RAD, RAE, RVH.
  
• Treatment: PGE; note that as ductus closes, the systemic oxygen saturation may increase (contrary to lesions that are ductal dependent for PBF, eg, pulmonary atresia). Single-ventricle palliations: Norwood → BDG → Fontan.

Pulmonary Atresia with Intact Ventricular Septum (PA/IVS) (eFigure 8-8)

• The sizes of the TV and RV are crucial in determining the interventional strategy.
  
• RV pressure is suprasystemic.
  
• May have RV to coronary artery fistulae; if coronaries have proximal stenoses, coronary circulation is dependent on RV for myocardial perfusion (“RV-dependent coronaries”).
  
• Physiology: Ductal-dependent pulmonary circulation, obligate right-to-left shunt at ASD.
  
• Presentation: Cyanosis from birth; worse as PDA closes.
  
• Physical exam: Single S2.; holosystolic murmur RLSB (TR).
  
• CXR: Nonspecific, decreased PVM, rarely cardiomegaly (RA dilatation).
  
• EKG: RAE, LVH.
  
• Treatment: PGE1, early cardiac catheterization to determine if coronary circulation is RV dependent; if not RV dependent, open pulmonary valve (transcatheter radiofrequency perforation versus surgical RVOT patch); if RV grows adequately, may require no further procedures for many years; otherwise may undergo BDG with patent RVOT (“1½ ventricle repair”). If coronary circulation is RV dependent, the patient should undergo single-ventricle palliation: BTS → BDG → Fontan.

Ebstein’s Anomaly (eFigure 8-9)

• Failure of normal embryologic delamination of the TV from the RV wall, resulting in an apically displaced TV, “atrialization” of the inlet portion of the RV, and diminished capacity to accept blood; frequently associated with RVOT obstruction.
  
• More than 80% have an ASD, often with right-to-left shunting.
  
• Physiology: Right-to-left shunt at the atrial level; may be ductal dependent for pulmonary circulation.
  
• Presentation: Variable cyanosis, SVT, and atrial arrhythmias are common.
  
• Physical exam: Systolic clicks ± gallop rhythm, holosystolic murmur LLSB (tricuspid regurgitation).
  
• CXR: Massive cardiomegaly (RA dilatation), ± decreased PVM.
  
• EKG: RAE, RBBB, WPW in 15% to 25% (Circulation 2007;115(25):3224).
  
• Treatment: Variable; if severe cyanosis is present, may require PGE1 ± BTS; results of tricuspid valve surgery are mixed; asymptomatic patients may require only observation.

Myocarditis

Inflammatory infiltrate of the myocardium with necrosis and degeneration of adjacent cardiac myocytes. Most cases in the developed world are of viral etiology (NEJM 1985;312(14):885). Impaired contractility (acute) leads to ventricular dilation (subacute and chronic), often with acute heart failure.

Epidemiology

• Usually sporadic, but does occur in epidemics, particularly in infants with coxsackie virus B as the cause.

Presentation

• Infants: Poor feeding, fever, irritability, listlessness, pallor, and diaphoresis.
  
• Children: Lethargy, fever, pallor, decreased appetite, abdominal pain, diaphoresis, exercise intolerance, and malaise.
  
• Patients often have a recent history of a viral illness in past 10 to 14 days.

Physical Exam

• Findings consistent with left ± right heart failure (eg, resting tachycardia, gallop, tachypnea, hepatomegaly, JVD, pulmonary crackles, pallor, weak pulses).
  
• Arrhythmias may occur and may be life threatening (J Am Coll Cardiol 1994;24(3):780).

Workup

• CXR: Cardiomegaly and pulmonary edema.
  
• EKG: Sinus tachycardia, low-voltage QRS complexes, ± inverted T waves.
  
• Echocardiography: Left ± right ventricular dilatation and dysfunction. Pericardial effusion is common. Must rule out other causes of severe myocardial dysfunction, such as ALCAPA in young infants.
  
• Cardiac catheterization: Controversial secondary to risks of the procedure; demonstrates low cardiac output and elevated ventricular end-diastolic pressures.
  
  
  
  • Endomyocardial biopsy: Mononuclear cell infiltrate with or without evidence of necrosis; classified using the Dallas criteria. (Human Pathology 1987;18(6):619)
    
  • Viral studies: Viral PCR from myocardium is considered the gold standard.

Treatment

• Acute treatment aimed at supporting cardiac output while minimizing myocardial work and wall stress:
  
  
  
  • Bedrest (may slow cardiac viral replication), IVIG (may increase ventricular function and survival: Circulation 1994;89(1):252), Immunosuppressive agents (controversial, not beneficial in adults: NEJM 1995;333(5):269), inotropes, diuretics, mechanical circulatory support (ventricular assist devices or ECMO as a bridge to recovery or transplant).
  
  
• Chronic treatment is similar to other causes of myocardial dysfunction: ACEIs and β-blockers.

Prognosis

• Poor in newborns; better in children and adolescents, with 10% to 25% dying or requiring transplantation and up to 66% with complete recovery (Cardiol Young 2004;14(5):488)

Rheumatic Fever

(Circulation 2009;119(11):1541)

• GABHS respiratory infection with rheumatogenic strains.
  
• May affect the joints, brain, heart, and skin; usually self-limiting, although carditis may lead to significant morbidity and mortality.
  
• Cardiac involvement ranges from mild valvulitis to severe carditis with acute mitral or aortic regurgitation, which may progress to heart failure. Additionally, chronic rheumatic valvular disease may present years after the inciting episode.
  
• Most common cause of acquired heart disease in children and young adults worldwide; more common in developing countries (NEJM 1988;318(5):280)
  
• Children 5 to 15 years of age are most commonly affected. Rarely occurs before 2 years of age or after 35 years of age.
  
• Clinical manifestations of rheumatic fever follow pharyngitis by 10 days to 5 weeks.
  
• Typically “pancarditis,” involving all layers of the heart: Endocardium (valvulitis), myocardium (myocarditis), and pericardium (pericarditis).
  
• Valvulitis: Fibrinous, verrucous vegetations develop most commonly on the atrial surface of the MV or ventricular side of the aortic valve. MR is the most common acute lesion. Chronic rheumatic heart disease most commonly results in mitral stenosis.
  
• Generalized vasculitis may occur (the coronary arteries and aorta may be involved).

Physical Exam

• Carditis: Murmur of MR, AI or pericardial friction rub. If CHF is present: tachypnea, dyspnea, orthopnea, pulmonary crackles.
  
• Arthritis: Must be true arthritis (erythema, effusion, stiffness) and polyarticular to satisfy the major criterion. Arthralgia (isolated joint pain) is only a minor criterion.
  
• Rash: Classic is erythema marginatum, which are pink macular lesions on the trunk and extremities that are not pruritic or painful. Tends to be evanescent.
  
• Subcutaneous nodules: Firm, mobile and nontender; occur on extensor surfaces.
  
• Sydenham’s chorea: If present, no other major criteria are needed. Occurs later in the disease process (subacute or chronic) and typically in patients who did not manifest other criteria.

Diagnosis and Evaluation