Endocardial cushion defect differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Cafer Zorkun, M.D., Ph.D. [2]; Varun Kumar, M.B.B.S.; Lakshmi Gopalakrishnan, M.B.B.S.; Mohammed A. Sbeih, M.D. [3]; Yamuna Kondapally, M.B.B.S[4]

Overview

The blowing holosystolic murmur of endocardial cushion defects must be distinguished from mitral regurtitaion, tricuspid regurgitation and a ventricular septal defect. Though ECG and chest x-ray may share some common features, echocardiography can be efficiently used for an accurate diagnosis.

Differentiating Endocardial Cushion Defect from other Diseases

All the three cardiac conditions have holosystolic murmur on auscultation. But they can be differentiated by characteristics of the murmur detailed below:

Mitral Regurgitation	Tricuspid Regurgitation	VSD
The murmur in mitral regurgitation is high pitched and best heard at the apex with diaphragm of the stethoscope with patient in the lateral decubitus position. Left ventricular function can be assessed by determining the apical impulse. A normal or hyperdynamic apical impulse suggests good ejection fraction and primary mitral regurgitation. A displaced and sustained apical impulse suggests decreased ejection fraction and chronic and severe mitral regurgitation.	Can be best heard over the fourth intercostal area at left sternal border. The intensity can be accentuated following inspiration (Carvallo's sign) due to increased regurgitant flow in right ventricular volume. Tricuspid regurgitation is most often secondary to pulmonary hypertension. Primary tricuspid regurgitation is less common and can be due to bacterial endocarditis following IV drug use, Ebstein's anomaly, carcinoid disease, or prior right ventricular infarction.	The holosystolic murmur can be best heard over the left third and fourth intercostal spaces and along the sternal border. When the shunt becomes reversed ("Eisenmenger's syndrome"), the murmur may be absent and S2 can become markedly accentuated and single.

Echocardiography

The above three cardiac conditions can also be differentiated more definitively using echocardiography where the echogenicity of blood flow across the defective valves or septum can be visualized and the severity can be quantified.

Mitral regurgitation must be differentiated from the following:

Diseases	History	Symptoms	Physical Examination	Murmur	Diagnosis				Other Findings
					ECG	CXR	Echocardiogram	Cardiac Catheterization
Mitral Stenosis	Age ( Mitral annular calcification in older patients) Rheumatic fever Endocarditis	Dyspnea on exertion Paroxysmal nocturnal dyspnea Orthopnea New onset atrial fibrillation	Mitral facies Heart murmur Jugular vein distension Apical impulse displaced laterally or not palpable Diastolic thrill at the apex Signs of heart failure in severe cases	Diastolic murmur Low pitched Opening snap followed by decrescendo-crescendo rumbling murmur Best heard with the bell of the stethoscope at apex at end-expiration in left lateral decubitus position Intensity increases after a valsalva maneuver, after exercise and after increased after load (eg., squatting, isometric hand grip)	P mitrale Atrial fibrillation: No P waves and irregularly irregular rhythm Right axis deviation Right ventricular hypertropy: Dominant R wave in V1 and V2	Straightening of the left border of the heart suggestive of enlargement of the left atrium Double right heart border (Enlarged left atrium and normal right atrium) Prominent left atrial appendage Splaying of subcarinal angle (>120 degrees) Calcification of mitral valve Kerley B lines	Reduced valve leaflet mobility Valve calcification Doming of mitral valve Valve thickening Enlargement of left atrium	Right heart catheterization: Pulmonary capillary wedge pressure (left atrial pressure) Left heart catheterization: Pressures in left ventricle Determines the gradient between the left and right atrium during ventricular diastole (marker of the severity of mitral stenosis)	Hemoptysis (heart failure) Ortner's syndrome
Mitral Regurgitation	CAD MI Rheumatic fever Endocarditis Mitral valve prolapse Cardiomyopathy Radiation therapy Trauma	Palpitations Symptoms of heart failure in severe cases	Palpation Brisk carotid upstroke and hyperdymanic carotid impulse on palpation Apical impulse is displaced to left S3 and a palpable thrill Auscultation Murmur	Holosystolic murmur High pitched, blowing Radiates to axilla Best heard with the diaphragm of the stethoscope at apex in left lateral decubitus position Intensity increases with hand grip or squatting Decrease in intensity on standing or valsalva maneuver	P mitrale in lead II Increased QRS voltage Right axis deviation Atrial fibrillation	Acute MR Kerley B lines No enlargement of cardiac silhouette Chronic MR Enlarged cardiac silhouette Straightening of left heart border Splaying of subcarinal angle Calcification of mitral annulus Double right heart border	Enlargement of left atrium and ventricle Identify valve abnormality Valve calcification Severity of regurgitation	Grading of MR is done with left ventriculography	Decompensated and acute MR may lead to heart failure
Atrial septal defect	Frequent respiratory or lung infections Dyspnea Tiring when feeding (Infants) Shortness of breath on exertion Palpitations Swelling of feet	Shortness of breath Fatigue Failure to thrive Swelling of feet and abdomen (Right heart failure) Palpitations Respiratory infections	Inspection Precordial bulge Precordial lift Palpation Right ventricular impulse Pulmonary artery pulsations Thrill Auscultation Murmur	Midsystolic (ejection systolic) murmur Widely split, fixed S2 Upper left sternal border	Normal Prolonged PR interval Right bundle branch block ECG findings varies according to the underlying type of ASD	Increased pulmonary markings Cardiomegaly Triangular appearance of heart Schimitar sign	Gold standard test for diagnosis of atrial septal defect (for more information click Atrial septal defect echocardiography)	Defect size Pulmonary venous return Pulmonary vascular resistance Pulmonary artery hypertension	Asymptomatic until later part of their life May be associated with migraine with aura
Left Atrial Myxoma	Dyspnea Orthopnea Pulmonary edema Hyperpigmentation of skin and endocrine activity Cerebral embolism	Symptoms may mimic mitral stenosis	Skin Signs of an embolic phenomenon Raynaud's phenomenon Swelling Clubbing Auscultation: Lung: Fine crepitations Heart: Characteristic "tumor plop"	Early diastolic sound as "tumor plop" Low frequency diastolic murmur may be heard if the tumor obstructing mitral valve	Often normal	Often normal Rare findings: cardiomegaly Left atrial enlargement tumor calcification etc.,	Initial and most useful diagnostic study For more information click Myxoma echocardiography or ultrasound	Useful to detect vascular supply of the tumor by the coronary arteries	Associated with Carney complex (genetic predisposition)
Prosthetic Valve Obstruction	History of valve replacement Systemic embolism	Shortness of breath Fatigue	Ausculation Muffling of murmur	Muffling or disappearance of prosthetic sounds Appearance of new regurgitant or obstructive murmur			Degree of stenosis Assess thrombus size and location Differentiate between thrombus, pannus and vegetations		Causes: Thrombus Pannus formation
Cor Triatriatum	Dyspnea on exertion Recent onset of congestive heart failure	Dsypnea on exertion Orthopnea Tachypnea Palpitations Growth failure	Auscultation Murmur Other findings Signs of heart failure	Diastolic murmur with loud P2 No opening snap or a loud S1	Non specific but may have Right axis deviation Right atrial enlargement Right ventricular hypertrophy	Normal cardiac silhouette Hemodynamic changes similar to mitral stenosis (non specific findings)	Direct visualization of membrane through the atrium +/- visualization of accessory chamber	Normal left ventricular hemodynamic profile with a trans atrial gradient	Types Cor triatriatum sinistrum Cor triatriatum dextrum
Congenital Mitral Stenosis	Respiratory distress shortly after birth Recurrent severe pulmonary infections Other associated congenital cardiovascular anamolies Atrial fibrillation	Infants: Exhaustion and sweating on feeding Rapid breathing Failure to thrive Pulmonary infections Chronic cough Older patients: Dyspnea Orthopnea Paroxysmal nocturnal dyspnea Peripheral edema Fatigue	Auscultation Murmur Other findings Signs of heart failure	Mild-Moderate Loud S1 Loud P2 Low frequency diastolic murmur best heard at the apex Severe Soft S1 Loud pulmonic component of S2 with minimal respiratory splitting of S2 Holodiastolic murmur with presystolic accentuation best heard at the apex Early diastolic murmur of pulmonic valve regurgitation	Sharp P waves in leads I and II Inversion of P wave in lead III Marked Q waves in leads II and III	Left atrial dilation Moderate enlargement of right heart Pulmonary venous congestion Esophageal compression	Reduced valve leaflet mobility Left atrial size Severity of mitral stenosis		Very rare condition
Supravalvular Ring Mitral Stenosis	Other associated congenital heart defects Fatigue Frequent respiratory infections Failure to thrive Poor feeding Precocious congestive heart failure	Shortness of breath Tachypnea Dyspnea Nocturnal cough Heamoptysis Syncope	Auscultation: Lungs: Fine, crepitant rales and rhonchi or wheezes may be present Heart: Murmur	An apical mid diastolic murmur with presystolic accentuation No opening snap The murmur is more prominent if associated with VSD or PDA		Left atrial and ventricular enlargement Alveolar edema	Supramitral ring: Associated with normal mitral valve apparatus Intramitral ring: Hypomobility of the posterior leaflet Reduced interpapillary muscle distance Reduced chordal length Dominant papillary muscle Hypoplastic mitral annulus (Difficult to visualize membrane <1mm in size)	Persistently elevated pulmonary venous pressures Increased pulmonary artery pressure	Types Supramitral Intramitral It is attached between the opening of the atrial appendage and the mitral annulus which helps in differentiating with Cor triatriatum sinister. Intramitral type is associated with shone complex