Massive Cardiomegaly
Eva Ilse Rubio, MD
DIFFERENTIAL DIAGNOSIS
Common
Ebstein Anomaly
Infectious Cardiomyopathy
Idiopathic Cardiomyopathy
Pericardial Effusion
Less Common
High Output Failure
Ventricular Septal Defect (VSD)
Atrioventricular Septal Defect (AVSD)
Aortic Coarctation
Anomalous Coronary Artery
Rare but Important
Pulmonary Artery Atresia with Intact Ventricular Septum
Glycogen Storage Disease
Cardiac Tumors
ESSENTIAL INFORMATION
Key Differential Diagnosis Issues
Age of onset and duration of symptoms
Cardiomegaly present at birth or new diagnosis in a previously healthy child?
Cyanotic vs. noncyanotic patient presentation?
Helpful Clues for Common Diagnoses
Ebstein Anomaly
Abnormally formed right-sided heart structures
Inferiorly displaced and fixed position of tricuspid valve leaflets
“Atrialization of right ventricle” refers to incorporation of right ventricular muscle into right atrium
Earlier diagnosis/presentation associated with poorer prognosis
Patients are often cyanotic
Imaging appearance
Often described as “wall-to-wall” heart
Contour of heart may be box-like
Infectious Cardiomyopathy
Patients noncyanotic
Often acute/subacute onset of dyspnea, wheezing
Etiologies
Viral (enterovirus, parvovirus, adenovirus, coxsackie virus)
Diphtheria
Lyme disease
Idiopathic Cardiomyopathy
May represent prior episode of infection
Biopsies may be nonspecific & unrevealing
Pericardial Effusion
Patients are noncyanotic; may demonstrate pulsus paradoxus
Imaging appearance described as “water bottle” heart
Etiologies
Viral cardiomyopathy
Systemic lupus erythematosus
Sarcoidosis
Trauma
Helpful Clues for Less Common Diagnoses
High Output Failure
Noncyanotic heart disease
Often seen with vascular malformations or soft tissue neoplasms
Vein of Galen malformation
Hemangioendotheliomas when seen extensively throughout liver
Parkes-Weber syndrome: Soft tissue vascular malformation with arteriovenous malformation; associated with extremity hemihypertrophy
Anemias
Sickle cell in advanced stages
Ventricular Septal Defect (VSD)
Patients are noncyanotic
Degree of cardiac enlargement depends upon size of defect
Imaging appearance
Increased pulmonary arterial and venous flow
Hyperexpanded lungs
Atrioventricular Septal Defect (AVSD)
Patients are noncyanotic
Strong association with Down syndrome
Features of AVSD
Deficient atrial, ventricular septa
Abnormal mitral and tricuspid valves
Associated with hepatomegaly, failure to thrive
Imaging appearance
Markedly enlarged heart
Increased pulmonary arterial and venous flow
Hyperexpanded lungs
Aortic Coarctation
Localized type
Focal ring-like narrowing in region of ductus
Diffuse type
Long segment of narrowing
Associations
Turner syndrome, trisomy 21, maternal diabetes
Intracardiac abnormalities: Bicuspid aortic valve, mitral/tricuspid valve abnormalities, VSD, PDA, AVSD
Imaging associations
“3” sign, formed by pre-/post stenosis aortic dilation with “waist” of stenosis
Notching/erosion of underside of 4th-9th posterior ribs in later childhood
Anomalous Coronary Artery
Patients are noncyanotic
Most commonly, left coronary artery arises from pulmonary artery
Preferential flow away from myocardial muscular bed into pulmonary circulation, results in ischemia
Imaging features
Severe cardiac enlargement
Left ventricular and atrial enlargement conspicuous on lateral view
Helpful Clues for Rare Diagnoses
Pulmonary Artery Atresia with Intact Ventricular Septum
Infants develop rapid cyanosis
Degree of right ventricular development variable
Cardiomegaly may be mild, moderate, or severe
Patients are ductal dependent and interatrial flow dependent
Glycogen Storage Disease
Noncyanotic cardiomyopathy
Types 2, 3, 4 may involve cardiac muscle
Type 2 (Pompe disease) classically results in profound cardiomyopathy
Severe myocardial hypertrophy
Smooth muscle involvement
Skeletal muscle involvement, including diaphragm
Macroglossia
Hepatomegaly
Cardiac Tumors
Rhabdomyomas (most common)
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