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Ebstein’s Anomaly

Ebstein's anomaly (EA) is a cyanotic congenital Congenital Chorioretinitis heart disease (CHD) characterized by the downward displacement Displacement The process by which an emotional or behavioral response that is appropriate for one situation appears in another situation for which it is inappropriate. Defense Mechanisms of the septal and posterior leaflets of the tricuspid valve Tricuspid valve The valve consisting of three cusps situated between the right atrium and right ventricle of the heart. Heart: Anatomy (TV). Ebstein's anomaly accounts for less than 1% of all cases of CHD. Maternal use of lithium is a common cause of EA. Clinical presentation Presentation The position or orientation of the fetus at near term or during obstetric labor, determined by its relation to the spine of the mother and the birth canal. The normal position is a vertical, cephalic presentation with the fetal vertex flexed on the neck. Normal and Abnormal Labor varies, with the most common symptom being cyanosis Cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. Pulmonary Examination. The age of presentation Presentation The position or orientation of the fetus at near term or during obstetric labor, determined by its relation to the spine of the mother and the birth canal. The normal position is a vertical, cephalic presentation with the fetal vertex flexed on the neck. Normal and Abnormal Labor varies from in utero to adulthood and is proportional to the severity of the TV displacement Displacement The process by which an emotional or behavioral response that is appropriate for one situation appears in another situation for which it is inappropriate. Defense Mechanisms, most cases present during adolescence. Ebstein's anomaly presents with multiple comorbidities Comorbidities The presence of co-existing or additional diseases with reference to an initial diagnosis or with reference to the index condition that is the subject of study. Comorbidity may affect the ability of affected individuals to function and also their survival; it may be used as a prognostic indicator for length of hospital stay, cost factors, and outcome or survival. St. Louis Encephalitis Virus, especially Wolff-Parkinson-White syndrome Wolff-Parkinson-White Syndrome A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the heart ventricles via an accessory conducting pathway that is located between the wall of the right or left atria and the ventricles, also known as a bundle of kent. The inherited form can be caused by mutation of prkag2 gene encoding a gamma-2 regulatory subunit of amp-activated protein kinase. Supraventricular Tachycardias. The diagnosis is confirmed by echocardiography Echocardiography Ultrasonic recording of the size, motion, and composition of the heart and surrounding tissues. The standard approach is transthoracic. Tricuspid Valve Atresia (TVA) and definitive treatment is surgical. Patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship who are managed appropriately still have a reduced life expectancy Life expectancy Based on known statistical data, the number of years which any person of a given age may reasonably expected to live. Population Pyramids.

Last updated: 19 Jan, 2021

Editorial responsibility: Stanley Oiseth, Lindsay Jones, Evelin Maza

Overview

Definition

Ebstein’s anomaly (EA) is a cyanotic congenital Congenital Chorioretinitis heart disease (CHD) characterized by the downward displacement Displacement The process by which an emotional or behavioral response that is appropriate for one situation appears in another situation for which it is inappropriate. Defense Mechanisms of the septal and posterior leaflets of the tricuspid valve Tricuspid valve The valve consisting of three cusps situated between the right atrium and right ventricle of the heart. Heart: Anatomy (TV) into the right ventricle (RV).

Morphology

  • TV in EA:
    • The posterior and septal leaflet’s annular attachments are displaced downward away from the atrioventricular (AV) junction into the RV.
    • The anterior leaflet is attached at the AV junction and may be fenestrated and tethered to the myocardium → regurgitation
  • RV:
    • Due to the displacement of the AV junction, a portion of the RV is atrialized and thin, lacking ventricular contractility.
    • The size of the true “functional” RV is limited and in severe cases may just be the right ventricular outflow tract (RVOT).
  • Associated defects:
    • Most common (80%): atrial septal defect Atrial Septal Defect Atrial septal defects (ASDs) are benign acyanotic congenital heart defects characterized by an opening in the interatrial septum that causes blood to flow from the left atrium (LA) to the right atrium (RA) (left-to-right shunt). Atrial Septal Defect (ASD) ( ASD ASD Autism spectrum disorder (ASD) is a neurodevelopmental disorder marked by poor social skills, restricted interests/social interactions, and repetitive/stereotyped behaviors. The condition is termed a “spectrum” because of the wide variability in the severity of symptoms exhibited. Autism Spectrum Disorder) or patent foramen ovale Patent Foramen Ovale A patent foramen ovale (PFO) is an abnormal communication between the atria that persists after birth. The condition results from incomplete closure of the foramen ovale. Small, isolated, and asymptomatic PFOs are a common incidental finding on echocardiography and require no treatment. Patent Foramen Ovale ( PFO PFO A patent foramen ovale (PFO) is an abnormal communication between the atria that persists after birth. The condition results from incomplete closure of the foramen ovale. Small, isolated, and asymptomatic pfos are a common incidental finding on echocardiography and require no treatment. Patent Foramen Ovale)
    • Ventricular septal defect Ventricular Septal Defect Tetralogy of Fallot (VSD)
    • Patent ductus arteriosus Patent ductus arteriosus The ductus arteriosus (DA) allows blood to bypass pulmonary circulation. After birth, the DA remains open for up to 72 hours and then constricts and involutes, becoming the ligamentum arteriosum. Failure of this process to occur results in patent ductus arteriosus (PDA), a condition that causes up to 10% of congenital heart defects. Patent Ductus Arteriosus (PDA) ( PDA PDA The ductus arteriosus (DA) allows blood to bypass pulmonary circulation. After birth, the DA remains open for up to 72 hours and then constricts and involutes, becoming the ligamentum arteriosum. Failure of this process to occur results in patent ductus arteriosus (PDA), a condition that causes up to 10% of congenital heart defects. Patent Ductus Arteriosus (PDA))
    • Accessory conduction pathways → Wolff-Parkinson-White syndrome Wolff-Parkinson-White Syndrome A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the heart ventricles via an accessory conducting pathway that is located between the wall of the right or left atria and the ventricles, also known as a bundle of kent. The inherited form can be caused by mutation of prkag2 gene encoding a gamma-2 regulatory subunit of amp-activated protein kinase. Supraventricular Tachycardias 
    • AV junction affecting the conduction pathway → right bundle branch block Bundle branch block A form of heart block in which the electrical stimulation of heart ventricles is interrupted at either one of the branches of bundle of His thus preventing the simultaneous depolarization of the two ventricles. Bundle Branch and Fascicular Blocks

Epidemiology

  • < 1% of all cases of CHD
  • 1 out of every 20,000 live births
  • Median Median After arranging the data from loWest to highest, the median is the middle value, separating the lower half from the upper half of the data set. Measures of Central Tendency and Dispersion age of presentation Presentation The position or orientation of the fetus at near term or during obstetric labor, determined by its relation to the spine of the mother and the birth canal. The normal position is a vertical, cephalic presentation with the fetal vertex flexed on the neck. Normal and Abnormal Labor is late childhood or adolescence.

Etiology

Failure of delamination (separation) of the TV from the myocardial wall due to:

  • Maternal use of lithium in early pregnancy Pregnancy The status during which female mammals carry their developing young (embryos or fetuses) in utero before birth, beginning from fertilization to birth. Pregnancy: Diagnosis, Physiology, and Care
  • Heterogeneous genetic predisposition
Ebstein anomaly

Diagram of EA: Note the downward displacement Displacement The process by which an emotional or behavioral response that is appropriate for one situation appears in another situation for which it is inappropriate. Defense Mechanisms of the TV and the resulting significantly reduced size (atrialization) of the RV.
RV: right ventricle
LV: left ventricle
RA: right atrium
TV: tricuspid valve Tricuspid valve The valve consisting of three cusps situated between the right atrium and right ventricle of the heart. Heart: Anatomy

Image by Lecturio.

Pathophysiology

The basis of cyanosis Cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. Pulmonary Examination and heart failure Heart Failure A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (ventricular dysfunction), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as myocardial infarction. Total Anomalous Pulmonary Venous Return (TAPVR) in EA is due to functionally impaired RV and tricuspid regurgitation Regurgitation Gastroesophageal Reflux Disease (GERD) that results in reduced ejection fraction Ejection fraction Cardiac Cycle ( EF EF Cardiac Cycle).

Increased backflow into the right atrium (RA) results in shunting of blood from the RA into the left through the interatrial defect, bypassing the lung and causing cyanosis Cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. Pulmonary Examination.

  • Reduced RV EF EF Cardiac Cycle due to:
  • Tricuspid regurgitation Regurgitation Gastroesophageal Reflux Disease (GERD) due to:
    • RV’s dilatation causes valvular annulus dilatation → enhances regurgitation Regurgitation Gastroesophageal Reflux Disease (GERD)
    • Backflow of blood into the RA during systole Systole Period of contraction of the heart, especially of the heart ventricles. Cardiac Cycle → increased RA pressure → increased venous pressure → systemic venous congestion
  • RA dilation:
    • Stagnation of blood may cause further RA dilation and arrhythmias such as atrial fibrillation Atrial fibrillation Atrial fibrillation (AF or Afib) is a supraventricular tachyarrhythmia and the most common kind of arrhythmia. It is caused by rapid, uncontrolled atrial contractions and uncoordinated ventricular responses. Atrial Fibrillation.
    • Increased pressure in the chamber → right-to-left (R-L) shunt through an interatrial defect → more deoxygenated blood into the systemic circulation Circulation The movement of the blood as it is pumped through the cardiovascular system. ABCDE Assessment cyanosis Cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. Pulmonary Examination:

Clinical Presentation

Symptoms are variable Variable Variables represent information about something that can change. The design of the measurement scales, or of the methods for obtaining information, will determine the data gathered and the characteristics of that data. As a result, a variable can be qualitative or quantitative, and may be further classified into subgroups. Types of Variables because they depend on the severity of the downward displacement Displacement The process by which an emotional or behavioral response that is appropriate for one situation appears in another situation for which it is inappropriate. Defense Mechanisms of the TV, which dictates the degree of regurgitation Regurgitation Gastroesophageal Reflux Disease (GERD) and dilatation of the RV.

In utero:

  • May cause hydrops fetalis Hydrops fetalis Abnormal accumulation of serous fluid in two or more fetal compartments, such as skin; pleura; pericardium; placenta; peritoneum; amniotic fluid. General fetal edema may be of non-immunologic origin, or of immunologic origin as in the case of erythroblastosis fetalis. Parvovirus B19
  • May cause severe cardiomegaly at birth

Infancy to adulthood:

  • Failure to thrive Failure to Thrive Failure to thrive (FTT), or faltering growth, describes suboptimal weight gain and growth in children. The majority of cases are due to inadequate caloric intake; however, genetic, infectious, and oncological etiologies are also common. Failure to Thrive ( FTT FTT Failure to thrive (FTT), or faltering growth, describes suboptimal weight gain and growth in children. The majority of cases are due to inadequate caloric intake; however, genetic, infectious, and oncological etiologies are also common. Failure to Thrive)
  • Palpitations (arrhythmia)
  • Cyanosis Cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. Pulmonary Examination 
  • Right-sided heart failure Heart Failure A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (ventricular dysfunction), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as myocardial infarction. Total Anomalous Pulmonary Venous Return (TAPVR):
    • Shortness of breath Shortness of breath Dyspnea is the subjective sensation of breathing discomfort. Dyspnea is a normal manifestation of heavy physical or psychological exertion, but also may be caused by underlying conditions (both pulmonary and extrapulmonary). Dyspnea
    • Edema Edema Edema is a condition in which excess serous fluid accumulates in the body cavity or interstitial space of connective tissues. Edema is a symptom observed in several medical conditions. It can be categorized into 2 types, namely, peripheral (in the extremities) and internal (in an organ or body cavity). Edema
    • Hepatomegaly
    • Ascites Ascites Ascites is the pathologic accumulation of fluid within the peritoneal cavity that occurs due to an osmotic and/or hydrostatic pressure imbalance secondary to portal hypertension (cirrhosis, heart failure) or non-portal hypertension (hypoalbuminemia, malignancy, infection). Ascites
    • Increased jugular venous pressure Jugular Venous Pressure Portal Hypertension (JVP)
    • S3 S3 Heart Sounds on auscultation
    • Parasternal heave
  • Murmur → tricuspid regurgitation Regurgitation Gastroesophageal Reflux Disease (GERD):
  • Paradoxic emboli → stroke

Diagnosis

An echocardiogram Echocardiogram Transposition of the Great Vessels is the key test for diagnosing EA.

Ebstein's anomaly

A transthoracic echocardiogram Transthoracic echocardiogram Endocarditis showing apical displacement Displacement The process by which an emotional or behavioral response that is appropriate for one situation appears in another situation for which it is inappropriate. Defense Mechanisms of the TV and atrialized portion of the RV, characteristic of EA
ARV: atrialized right ventricle
FRV: functional right ventricle
LA: left atrium
LV: left ventricle
MV: mitral valve Mitral valve The valve between the left atrium and left ventricle of the heart. Heart: Anatomy
RA: right atrium
STL: septal tricuspid leaflet

Image: “A transthoracic echocardiographic image” by the Department of Pediatric Cardiology, Narayan Hrudayalaya Institute of Cardiac Cardiac Total Anomalous Pulmonary Venous Return (TAPVR) Sciences, Bangalore, India. License: CC BY 2.0.

Doppler Doppler Ultrasonography applying the doppler effect, with frequency-shifted ultrasound reflections produced by moving targets (usually red blood cells) in the bloodstream along the ultrasound axis in direct proportion to the velocity of movement of the targets, to determine both direction and velocity of blood flow. Ultrasound (Sonography) and transthoracic echocardiogram Transthoracic echocardiogram Endocarditis findings:

  • The degree of displacement Displacement The process by which an emotional or behavioral response that is appropriate for one situation appears in another situation for which it is inappropriate. Defense Mechanisms of the tricuspid leaflets (> 8 mm MM Multiple myeloma (MM) is a malignant condition of plasma cells (activated B lymphocytes) primarily seen in the elderly. Monoclonal proliferation of plasma cells results in cytokine-driven osteoclastic activity and excessive secretion of IgG antibodies. Multiple Myeloma/m3)
  • Severity of tricuspid regurgitation Regurgitation Gastroesophageal Reflux Disease (GERD)
  • Associated cardiac Cardiac Total Anomalous Pulmonary Venous Return (TAPVR) lesions ( ASD ASD Autism spectrum disorder (ASD) is a neurodevelopmental disorder marked by poor social skills, restricted interests/social interactions, and repetitive/stereotyped behaviors. The condition is termed a “spectrum” because of the wide variability in the severity of symptoms exhibited. Autism Spectrum Disorder, PFO PFO A patent foramen ovale (PFO) is an abnormal communication between the atria that persists after birth. The condition results from incomplete closure of the foramen ovale. Small, isolated, and asymptomatic pfos are a common incidental finding on echocardiography and require no treatment. Patent Foramen Ovale)

Tests to confirm the presence of comorbidities Comorbidities The presence of co-existing or additional diseases with reference to an initial diagnosis or with reference to the index condition that is the subject of study. Comorbidity may affect the ability of affected individuals to function and also their survival; it may be used as a prognostic indicator for length of hospital stay, cost factors, and outcome or survival. St. Louis Encephalitis Virus:

  • Electrocardiogram Electrocardiogram An electrocardiogram (ECG) is a graphic representation of the electrical activity of the heart plotted against time. Adhesive electrodes are affixed to the skin surface allowing measurement of cardiac impulses from many angles. The ECG provides 3-dimensional information about the conduction system of the heart, the myocardium, and other cardiac structures. Electrocardiogram (ECG) ( ECG ECG An electrocardiogram (ECG) is a graphic representation of the electrical activity of the heart plotted against time. Adhesive electrodes are affixed to the skin surface allowing measurement of cardiac impulses from many angles. The ECG provides 3-dimensional information about the conduction system of the heart, the myocardium, and other cardiac structures. Electrocardiogram (ECG)) looking for:
    • Right bundle branch block Bundle branch block A form of heart block in which the electrical stimulation of heart ventricles is interrupted at either one of the branches of bundle of His thus preventing the simultaneous depolarization of the two ventricles. Bundle Branch and Fascicular Blocks
    • Wolf-Parkinson-White Syndrome (delta waves)
    • A 24-hour ECG ECG An electrocardiogram (ECG) is a graphic representation of the electrical activity of the heart plotted against time. Adhesive electrodes are affixed to the skin surface allowing measurement of cardiac impulses from many angles. The ECG provides 3-dimensional information about the conduction system of the heart, the myocardium, and other cardiac structures. Electrocardiogram (ECG) (Holter) → evaluate arrhythmias
  • Chest X-ray X-ray Penetrating electromagnetic radiation emitted when the inner orbital electrons of an atom are excited and release radiant energy. X-ray wavelengths range from 1 pm to 10 nm. Hard x-rays are the higher energy, shorter wavelength x-rays. Soft x-rays or grenz rays are less energetic and longer in wavelength. The short wavelength end of the x-ray spectrum overlaps the gamma rays wavelength range. The distinction between gamma rays and x-rays is based on their radiation source. Pulmonary Function Tests → cardiomegaly (“wall-to-wall heart”)
Massive cardiomegaly

“Wall-to-wall heart” in a neonate Neonate An infant during the first 28 days after birth. Physical Examination of the Newborn born with an EA

Image: “ Proband Proband Basic Terms of Genetics‘s chest” by Diagnostic Genetics Genetics Genetics is the study of genes and their functions and behaviors. Basic Terms of Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand. License: CC BY 3.0.

Management and Prognosis

In neonates, the aim is to medically manage the newborn Newborn An infant during the first 28 days after birth. Physical Examination of the Newborn.

Medical therapy

Medical management to optimize heart failure Heart Failure A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (ventricular dysfunction), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as myocardial infarction. Total Anomalous Pulmonary Venous Return (TAPVR) and arrhythmias is used prior to surgical stabilization. Medical management is indicated for neonates and symptomatic adults:

  • Neonates: aims to reduce pulmonary vascular pressure:
    • Keep ductus arteriosus Ductus arteriosus A fetal blood vessel connecting the pulmonary artery with the descending aorta. Patent Ductus Arteriosus (PDA) open → prostaglandin E1 Prostaglandin E1 Coarctation of the Aorta
    • Inhaled nitric oxide Nitric Oxide A free radical gas produced endogenously by a variety of mammalian cells, synthesized from arginine by nitric oxide synthase. Nitric oxide is one of the endothelium-dependent relaxing factors released by the vascular endothelium and mediates vasodilation. It also inhibits platelet aggregation, induces disaggregation of aggregated platelets, and inhibits platelet adhesion to the vascular endothelium. Nitric oxide activates cytosolic guanylate cyclase and thus elevates intracellular levels of cyclic gmp. Pulmonary Hypertension Drugs
  • Child/adult: 
    • Manage heart failure Heart Failure A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (ventricular dysfunction), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as myocardial infarction. Total Anomalous Pulmonary Venous Return (TAPVR) and volume overload. 
    • Manage comorbidities Comorbidities The presence of co-existing or additional diseases with reference to an initial diagnosis or with reference to the index condition that is the subject of study. Comorbidity may affect the ability of affected individuals to function and also their survival; it may be used as a prognostic indicator for length of hospital stay, cost factors, and outcome or survival. St. Louis Encephalitis Virus such as arrhythmias.

Surgical therapy

  • Indicated for symptomatic infants, older children, and medically stable adults
  • Includes closure of associated defects and ablation of accessory conduction pathways

Prognosis Prognosis A prediction of the probable outcome of a disease based on a individual’s condition and the usual course of the disease as seen in similar situations. Non-Hodgkin Lymphomas

  • The severity of the anomaly determines the prognosis Prognosis A prediction of the probable outcome of a disease based on a individual’s condition and the usual course of the disease as seen in similar situations. Non-Hodgkin Lymphomas.
  • High mortality Mortality All deaths reported in a given population. Measures of Health Status rate in utero
  • Life expectancy Life expectancy Based on known statistical data, the number of years which any person of a given age may reasonably expected to live. Population Pyramids is reduced to the 50s if EA presents in childhood.
  • 86% of patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship require surgical repair.
  • Cyanosis Cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. Pulmonary Examination and heart failure Heart Failure A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (ventricular dysfunction), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as myocardial infarction. Total Anomalous Pulmonary Venous Return (TAPVR) in infancy carry the worst prognosis Prognosis A prediction of the probable outcome of a disease based on a individual’s condition and the usual course of the disease as seen in similar situations. Non-Hodgkin Lymphomas.

Differential Diagnosis

The following are differential diagnoses for EA:

The following conditions are comorbidities Comorbidities The presence of co-existing or additional diseases with reference to an initial diagnosis or with reference to the index condition that is the subject of study. Comorbidity may affect the ability of affected individuals to function and also their survival; it may be used as a prognostic indicator for length of hospital stay, cost factors, and outcome or survival. St. Louis Encephalitis Virus of EA:

  • Tricuspid regurgitation Regurgitation Gastroesophageal Reflux Disease (GERD) (TR): one of the key morphologic features of EA, TR results in the backflow of blood from the RV to RA during systole Systole Period of contraction of the heart, especially of the heart ventricles. Cardiac Cycle. Regurgitation Regurgitation Gastroesophageal Reflux Disease (GERD) worsens with time due to the increased diameter of the annulus ring. Must be surgically repaired.
  • ASD ASD Autism spectrum disorder (ASD) is a neurodevelopmental disorder marked by poor social skills, restricted interests/social interactions, and repetitive/stereotyped behaviors. The condition is termed a “spectrum” because of the wide variability in the severity of symptoms exhibited. Autism Spectrum Disorder: the most common intra-atrial defect present in EA patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship. Eisenmenger’s syndrome occurs as the RA pressure increases, resulting in cyanosis Cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. Pulmonary Examination, especially in late childhood. Can also lead to a paradoxic embolus in some cases.
  • Heart failure Heart Failure A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (ventricular dysfunction), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as myocardial infarction. Total Anomalous Pulmonary Venous Return (TAPVR): Ebstein’s anomaly results in right-sided heart failure Heart Failure A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (ventricular dysfunction), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as myocardial infarction. Total Anomalous Pulmonary Venous Return (TAPVR) due to the dysfunction of the RV. Symptoms of right-sided heart failure Heart Failure A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (ventricular dysfunction), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as myocardial infarction. Total Anomalous Pulmonary Venous Return (TAPVR) include edema Edema Edema is a condition in which excess serous fluid accumulates in the body cavity or interstitial space of connective tissues. Edema is a symptom observed in several medical conditions. It can be categorized into 2 types, namely, peripheral (in the extremities) and internal (in an organ or body cavity). Edema and hepatic congestion with signs of raised JVP, pitting edema Pitting edema Edema caused by excess fluid without excess colloid. Leaves “pits” due to fluid displacement when pressure is applied to the area Edema, and ascites Ascites Ascites is the pathologic accumulation of fluid within the peritoneal cavity that occurs due to an osmotic and/or hydrostatic pressure imbalance secondary to portal hypertension (cirrhosis, heart failure) or non-portal hypertension (hypoalbuminemia, malignancy, infection). Ascites
  • Supraventricular tachycardia Tachycardia Abnormally rapid heartbeat, usually with a heart rate above 100 beats per minute for adults. Tachycardia accompanied by disturbance in the cardiac depolarization (cardiac arrhythmia) is called tachyarrhythmia. Sepsis in Children: Ebstein’s anomaly is commonly associated with the presence of accessory pathways, which results in arrhythmias such as Wolff-Parkinson-White syndrome Wolff-Parkinson-White Syndrome A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the heart ventricles via an accessory conducting pathway that is located between the wall of the right or left atria and the ventricles, also known as a bundle of kent. The inherited form can be caused by mutation of prkag2 gene encoding a gamma-2 regulatory subunit of amp-activated protein kinase. Supraventricular Tachycardias. Many patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship in adulthood may present with palpitations as the 1st symptom. Other forms of arrhythmias such as atrial fibrillation Atrial fibrillation Atrial fibrillation (AF or Afib) is a supraventricular tachyarrhythmia and the most common kind of arrhythmia. It is caused by rapid, uncontrolled atrial contractions and uncoordinated ventricular responses. Atrial Fibrillation or atrial flutter Atrial flutter Atrial flutter is a regular supraventricular tachycardia characterized by an atrial heart rate between 240/min and 340/min (typically 300/min), atrioventricular (AV) node conduction block, and a “sawtooth” pattern on an electrocardiogram (ECG). Atrial Flutter have been noted in some rare cases due to RA dilatation.

References

  1. Kliegman, R. M. et al. (2020). Cyanotic congenital heart disease: Lesions associated with decreased pulmonary blood flow. In R. M. Kliegman MD et al. Nelson textbook of pediatrics (pp. 239-2407.e1). https://www.clinicalkey.es/#!/content/3-s2.0-B9780323529501004570
  2. Murthy, R., Moe, T. G., Van Arsdell, G. S., Nigro, J. J., & Karamlou, T. (2019). Congenital heart disease. In F. C. Brunicardi et al. (Eds.), Schwartz’s principles of surgery, 11e. New York, NY: McGraw-Hill Education. Retrieved from accessmedicine.mhmedical.com/content.aspx?aid=1164311314
  3. Lange, R. A., M.D., & Cigarroa, J. E., M.D. (2019). Congenital heart disease. In R. D. Kellerman MD, & D. P. Rakel MD (Eds.), Conn’s current therapy 2019 (pp. 105-110). https://www.clinicalkey.es/#!/content/3-s2.0-B9780323596480000286

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