“Ebstein’s anomaly is a rare cardiac anomaly that occurs in approximately one in 20,000 live births and accounts for less than 1% of all congenital heart disease (Ebstein’s anomaly in adults)”. The goal of this paper is to examine Ebstein’s Anomaly - to understand what it is, how it affects the heart, possible presenting symptoms, and other possible complications associated with this anomaly. Diagnosis of this anomaly is key in treating patients, thus echocardiographic as well as other test modalities are vital in assessing what the treatment options are available, as well as discerning what the prognosis may be. Advancing test modalities have helped distinguish Ebstein’s Anomaly with other differential diagnoses. Developments with …show more content…
Background In 1866 Wilham Ebstein first described the cardiac defects associated with Ebsteins’s Anomaly. Ebstein was a doctor born in Prussia in 1836 who received his medical degree from Berlin in 1859. A 19-year-old patient who presented with shortness of breath and palpitations was not able to withstand his insufficient tricuspid valve. Wilham’s autopsy of the young man indicated “an enlarged and fenestrated anterior tricuspid leaflet; the posterior and septal leaflets were hypoplastic, thickened and adherent to the right ventricle, an enlarged right atrium, and a patent foramen ovale” (Swiss Medical Weekly, 2005). Although Ebstein portrayed the first case it was not until 1927 that Alfred Arnstein suggested the name Ebstein’s Anomaly for these defects. Ten years later in 1937 Yates and Sharpiro confirmed a case of Ebstein’s Anomaly with radiographic and electrocardiographic data (Riaz, 2013). In the past this anomaly was typically diagnosed during an autopsy, now echocardiography is the standard for diagnosis. Once patients could be diagnosed with Ebstein’s while they were still alive, a group of symptoms was eventually composed.
Symptoms
Although minor cases of Ebstein’s Anomaly may not present with any obvious symptoms in youth, once in adulthood the symptoms usually
This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.
Dr. Arantza Manzanal explains how takotsubo was initially described “as a syndrome of reversible LV dysfunction with wall-motion abnormalities that involve the apical and midventricular segments” (57). Dr. Paolo Angelini rationalizes that “only during the last 2 decades have Japanese authors specifically categorized transient takotsubo cardiomyopathy (TTC) as an entity in itself. Before that time, TTC was often called “acute myocardial infarction with normal coronary arteries” (312). We will
Critical Congenital Heart Defect (CCHD) is a subgroup of congenital heart defects that normally necessitates surgical intervention or catheterization procedure during the neonatal period (Good, Canale, Goodman, & Yeager, 2015). According to Mahle et al. (2009), although there are measures taken to detect CCHD like prenatal ultrasound and comprehensive newborn physical examination during newborn’s birth hospitalization, there is still a significant percentage of newborns with CCHD that is left undetected and discharged home without being diagnosed. Delay in diagnosis of CCHD increases morbidity and mortality (Mahle et al., 2009). In response to this, Riede et al. (2010) mentioned that the diagnostic gap in CCHD could be bridged by screening newborns using pulse oximetry
Anomalous coronary arteries currently affect approximately 1% of the population. And due to the lack of frequency in which coronary anomalies occur, interest and ability to research these anomalies is lacking. The issue is that athletes, specifically young healthy athletes, are at large risk of death from coronary anomalies. In fact, anomalies cause 11.8% of deaths in amateur athletes. This has lead to a current increase in research of these anomalies. Coronary anomalies are typically present at birth, but due to their lack of symptoms they are rarely diagnosed. Encompassing a wide spectrum, these anomalies include but are not limited by: separation of the LAD and LC from the valsalva, absent left circumflex, ectopic origin of the RCA, small
The patient has been diagnosed with atrial defibrillation and congestive heart failure. There is no visible jugular vein distention or pulsations on either side of the neck. The patient was not comfortable with removing her sweater, therefore, pulsations, lifts, or heaves were not seen if present. Palpated and auscultated the carotid arteries for vascular sounds, no bruits heard. Heart sounds were auscultated with the bell and diaphragm of the stethoscope. S1 82/min, even and regular. S2 85/min, even and regular. S3 82/min, even and regular. S4 83/even and regular. No murmurs were heard. The apical pulse rate was 92 bmp, regular and was accessed with patient in sitting position and between the 4th and 5th intercostal space. Patient stated
The heart cannot help but break for the suffering of children who are marked by the cruelty of congenital diseases. One such disease is tetralogy of tallot which as a congenital ailment occurs at birth and involves four different kinds of cardial defects (Mayo Clinic, 2015). The incidents of tetralogy of fallot is actually quite rare with only five out of every 10,000 developing it at birth (National Heart, Lung, and Blood Institute, 2011). It is still important to be familiar with. One reason for the need of understanding the disease is that of all congenital heart disorders it is the one most frequently seen, and the mortality rate is another consideration as 50% will not survive past the age of six should tetralogy of fallot be left untreated (Bhimji & Mancini, 2015). Finally, while vast improvements have been made in intervention of the disease improving survivability the condition will have an effect upon a patients throughout their lifetimes. It is because of these that it is important for early recognition, diagnosis, treatment and care of the disease be enacted to ensure not only a positive health outcome but also a good quality of life.
The doctor, cardiologist, and other medical professionals will be looking for certain things to determine if a person has heart failure; for example, a third heart beat (besides the usual “lub” “dub”). Heart failure is diagnosed by certain symptoms along with certain medical tests (Krum, 2009). Some medical tests conducted by various kinds of doctors are the following: Electrocardiograms, Echocardiography, and MRIs. An electrocardiogram is a machine that displays a person’s heartbeat to assess electrical and muscular purposes of the heart. Electrocardiograms are helpful because it can rule out a certain type of heart failure (Krum, 2009). Echocardiography uses ultrasound technology to examine the heart. This test can help with the diagnosis of heart failure because it can give the medical professional information about the left ventricle. An MRI is a medical exam to determine if someone has heart failure because it gives an evaluation of the
Congestive cardiac failure is by far the most frequent symptom. It may be associated with massive peripheral edema or massive pleural effusion leading to cardiac tamponade. It may rarely mimic other congenital cardiac malformations such as Ebstein’s anomaly or functional pulmonary atresia. Arrhythmias and conduction disturbances are not a predominant feature of Uhl’s anomaly, probably due to absence of residual foci to initiate or transmit anomalous electrical activity. (Gerlis 2003)
Right-sided heart failure can be ruled in. When the heart is backed up it produces an overload of fluid in the lungs and entire body. As fluid accumulates in the lungs it can cause chest tightness, sob, jugular vein distention and coughing which produces a pink frothy colored sputum in which patient is positive for. Although this diagnosis has strong symptomology the BNP is normal and the diagnosis of Heart failure may be ruled out. (Dunphy & Winland-Brown,
Risk for having CAD or established CAD, previous MI or heart failure with decreased ejection fraction and ventricular arrhythmias are the known risk factors for SCD[17, 136]. The estimated incidence rate of SCD in infants, children, adolescents, and young adults is about 1.3 to 8.5 per 100,000 patient/years [137] but it still costs to thousands life per year. Sudden infant death syndrome accounting for approximately 10% of the crib death is believed to be due to cardiac arrhythmia or long QT syndrome [138]. A study suggest that out of 158 deaths of American athletes, 30% were due to hypertrophic cardiomyopathy and 13% due to abnormal blood circulation, 10% due to increased cardiac mass due to cardiomyopathy [139]. Another study suggest 20% death due to CAD and 10% deaths due to right ventricular cardiomyopathy/ dysplasia in young population [140]. Patients suffering from SCD with normal heart or without any cardiac disease history, on autopsy show structural abnormalities. Sudden unexplained deaths are also a major concern in epidemiology of SCD and careful post-mortem and histological examination can play a vital role [17]. In a study with 270 autopsies 55 were found to have structural heart disease and a specific cause for death were found in 180 cases with 65% having CAD, 14% with congenital anomalies and 11% with myocarditis. Left
Following the ultrasound and consultation all of her questions were answered in detail. Currently at this time we have not scheduled her back for a follow-up evaluation with us but because of her brother’s history of a congenital heart defect, we would recommend a fetal echocardiogram at around 22 weeks gestation if she continues to progress
Heart failure due to a defect in expulsion of blood caused by an abnormality in systolic function, or ventricular contractile dysfunction. (Hart, RHIA, CCS, CCS-P, Stegman, MBA, CCS, and Ford, RHIT, CCS)
“When he was two, if you laid him on his stomach, he began to try to move himself, straining terribly. The doctor said that this was a congenital heart defect that they would do everything
Echocardiography is the initial diagnostic modality for a patient with suspected congenital heart disease. In some patients, however, use of this modality is encumbered by its limited ability to delineate great arteries and intra cardiac anomalies, pulmonary veins, and coronary arteries. (7)
In addition, scientists have found that genetics also plays a role in cardiac arrhythmias and that in some cases patients have commented that they had no symptoms before they succumbed to some form of episode of cardiac distress, like a sudden heart attack. This has proven to be standard for many different forms of arrhythmias, whether it’s due to genetics or not. One such case is the long QT syndrome (LQTS) which is estimated to affect one in every 5000 people and is recognized as a family disorder, frequent in children during their childhood years (Wilde, and Bezzina 1352–1358.) Patients with this disorder can have symptoms of a fluttering heartbeat, shortness of breath, and chest pain, while other patients might not experience any symptoms at all (Wilde, and Bezzina 1352–1358.) Another known disorder is cardiac conduction disease, which is mostly due to some form of cardiac injury (Wilde, and Bezzina 1352–1358.) Symptoms for this