Genetic aspects of Ebstein anomaly and related heart diseases

2021 ◽  
Vol 76 (1) ◽  
pp. 67-74
Author(s):  
Elena V. Penyaeva
Keyword(s):  
Right Ventricle ◽  
Tricuspid Valve ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Left Ventricular ◽  
Deletion Syndrome ◽  
Published Data ◽  
Ebstein Anomaly ◽  
Hereditary Syndromes ◽  
The Right

Ebstein anomaly is a congenital heart disease, which is characterized by the presence of atrialized portion of the right ventricle, formed as a result of displacement of the tricuspid valve leaflets into the right ventricle and their partial adherence to the underlying myocardium. Atrialized portion in the right ventricle occupies the space between the fibrous annulus of the right atrioventricular orifice and the functional annulus of tricuspid valve, which represents a zone of closure of free (non-adherent to the underlying myocardium) edges of its leaflets. Ebstein anomaly is very rarely isolated, and can be combined with a number of heart diseases and be an integral part of hereditary syndromes. Currently, the role of genetic research in the investigation of the etiology of human diseases as well as understanding of the relationship between different diseases is increasing. The review presents literature data on the combination of Ebstein anomaly with other heart diseases (congenital heart diseases, Wolf-Parkinson-White syndrome, cardiomyopathies, including left ventricular noncompaction), inter alia, within the scope of hereditary syndromes (Noonan syndrome, 8p deletion syndrome, 18q deletion syndrome, 1p36 deletion syndrome, Pierre Robin syndrome). Genetic factors (gene and chromosomal mutations) lying at the core of Ebstein anomaly, as well as heart diseases combined with it, are highlighted. The analysis of published data suggests that Ebstein anomaly is a monogenic disease, and is characterized by allelic and locus genetic heterogeneity. The combination of Ebstein anomaly with other heart diseases is based on their genetic linkage.

scholarly journals TETRALOGI FALLOT DAN ATRESIA PULMONAL

2013 ◽  
Vol 4 (3) ◽  
Author(s):  
Alice I. Supit ◽  
Erling D. Kaunang
Keyword(s):  
Patent Ductus Arteriosus ◽  
Right Ventricle ◽  
Tetralogy Of Fallot ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Ductus Arteriosus ◽  
Ventricle Hypertrophy ◽  
The Right ◽  
Right Ventricle Hypertrophy ◽  
Patent Ductus

Abstract: Congenital heart disease is a structural defect due to the malformation of the heart, aorta, and or great blood vessels. It is the most frequent congenital malformation in newborn babies. Tetralogy of Fallot is one of the congenital heart diseases (CHD) with central cyanosis, and covers 5-10% of all CHD. We reported a boy of one year old with Tetralogy of Fallot and pulmonal atresia (ToF-PA), associated with bronchopneumonia. The diagnosis was based on anamnesis, physical examination, and other supporting examinations. The chest X-ray showed a normal sized heart (CTR 57%) with coer-en-sabot shape, and right and left parahilar infiltration, which resulted in bronchopneumonia and ToF. The electrocardiography showed a right deviation of axis and a hypertrophy of the right ventricle; the echocardiography showed a right ventricle hypertrophy, an over-riding aorta, a large malalignment of the ventricular septal defect, no visualization of pulmonar artery, and no visualization of patent ductus arteriosus (PDA). Conclusion: Based on all the tests performed, the diagnosis of this patient was Tetralogy of Fallot and pulmonal atresia (ToF-PA), associated with bronchopneumonia. The prognosis related to bronchopneumonia in this case was good due to the use of antibiotics. Keywords: tetralogy of Fallot, pulmona atresia, bronchopneumonia.  Abstrak: Penyakit jantung bawaan (PJB) ialah kelainan struktural akibat malformasi jantung, aorta dan atau pembuluh darah besar, dan merupakan kelainan kongenital tersering pada bayi baru lahir. Tetralogi Fallot merupakan salah satu PJB dengan sianosis sentral, dan mencakup 5-10% dari seluruh PJB. Kami melaporkan kasus seorang anak laki-laki berusia satu tahun dengan Tetralogi Fallot dan atresia pulmonal (ToF-PA) disertai bronkopneumonia. Diagnosis ditegakkan melalui anamnesis, pemeriksaan fisik, dan pemeriksaan penunjang. Hasil ekspertisi foto toraks AP memperlihatkan ukuran jantung normal (CTR 57%) berbentuk coer-en-sabot, dan pada paru-paru terlihat infiltrat parahilar kanan dan kiri serta corakan vaskular paru berkurang yang menunjukkan suspek bronkopneumonia dan ToF. Elektrokardiografi memperlihatkan deviasi aksis ke kanan dan hipertrofi ventrikel kanan, dan pada ekokardiografi tampak right ventricle hypertrophy, overriding aorta, VSD malalignment besar, tidak tampak visualisasi arteri pulmonal, dan tidak tampak patent ductus arteriosus (PDA) dengan hasil Tetralogi Fallot dan atresia pulmonal. Simpulan: Berdasarkan hasil pemeriksaan yang dilakukan, diagnosis pasien ini ialah Tetralogi Fallot dan atresia pulmonal (ToF-PA) disertai bronkopneumonia. Prognosis bronkopenumonia pada kasus ini baik yang dapat diatasi dengan antibiotika.Kata kunci: tetralogi Fallot, atresia pulmonal, bronkopneumonia.  

scholarly journals Ebstein Anomaly With QRS Fragmentation on Electrocardiogram

2017 ◽  
Vol 5 (1) ◽  
pp. 232470961668871 ◽  
Author(s):  
Prakash Acharya ◽  
Jonathan Ross Ang ◽  
Bernard Gitler
Keyword(s):  
Right Ventricle ◽  
Tricuspid Valve ◽  
Congenital Disorder ◽  
Corrective Surgery ◽  
Ebstein Anomaly ◽  
Interatrial Communication ◽  
Rare Congenital Disorder ◽  
Qrs Fragmentation ◽  
The Right

Ebstein anomaly is a rare congenital disorder that involves the tricuspid valve and the right ventricle. It is associated with interatrial communication, which allows for paradoxical embolization causing unilateral blindness. Abnormal conduction through the atrialized right ventricle leads to QRS fragmentation on electrocardiogram. Its presence suggests a more severe abnormality and a higher risk of arrhythmia. The QRS fragmentation disappears after corrective surgery with resection of the atrialized right ventricle.

scholarly journals A case of an uncorrected double outlet right ventricle with ventricular septal defect in pregnancy

2019 ◽  
Vol 8 (9) ◽  
pp. 3805
Author(s):  
Kedar M. Tilak ◽  
Uma N. Wankhede
Keyword(s):  
Congenital Heart Disease ◽  
Right Ventricle ◽  
Congenital Heart ◽  
Multidisciplinary Approach ◽  
Septal Defect ◽  
Heart Diseases ◽  
Double Outlet Right Ventricle ◽  
Congenital Heart Diseases ◽  
The Right ◽  
In Pregnancy

Congenital Heart Diseases (CHD) lead to various changes in the normal mechanisms of hemodynamics. Pregnancy in women with CHDs is rare. Double Outlet Right Ventricle (DORV) is a rare disorder, in which both the aorta and the pulmonary artery arise from the right ventricle. We present a case of a thirty-year-old pregnant woman who presented to us with 22 weeks of amenorrhea. She had DORV with VSD, which was undiagnosed till she came to our hospital. Double Outlet Right Ventricle (DORV) is a rare congenital heart disease. Pregnancy in a patient with DORV needs early diagnosis and a stepwise multidisciplinary approach for successful outcomes.

Repairing the tricuspid valve in congenital heart diseases other than Ebstein’s

2014 ◽  
Vol 24 (6) ◽  
pp. 1077-1087
Author(s):  
Ali Dodge-Khatami ◽  
Constantine D. Mavroudis ◽  
Jennifer Frost ◽  
Jeffrey P. Jacobs ◽  
Constantine Mavroudis
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Tricuspid Valve ◽  
Congenital Anomalies ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Surgical Techniques ◽  
Congenital Heart Diseases ◽  
Right Heart ◽  
The Right

AbstractThe tricuspid valve is being increasingly recognised as an important safeguard to the heart with congenital heart disease. Both structural anomalies of the valve and functional burdens from other malformations of the right heart can lead to major haemodynamic consequences both upstream and downstream. The indications to surgically intervene on the tricuspid valve are evolving and vary depending on the malformation. The extant surgical techniques and their applications to corresponding frequent congenital anomalies of the tricuspid valve are reviewed.

A Misdiagnosed Case of Double Outlet Right Atrium Associated With Hypoplastic Right Ventricle

2020 ◽  
Vol 11 (3) ◽  
pp. 358-360
Author(s):  
Irene Raso ◽  
Andrea Quarti ◽  
Massimo Chessa ◽  
Domenica Paola Basile ◽  
Antonio Saracino ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Right Ventricle ◽  
Adult Patient ◽  
Tricuspid Valve ◽  
Right Atrium ◽  
Congenital Heart ◽  
Interventricular Septum ◽  
Hypoplastic Right Ventricle ◽  
The Right

Double outlet right atrium (DORA) is a rare congenital heart disease in which the right atrium opens into both ventricles. The reduced leftward motion of the interventricular septum causes a malalignment between the atrial and the ventricular septum at the cardiac crux, which is the pathognomonic feature of this heart defect. We describe a case of significant exertional desaturation in an adult patient who was diagnosed with DORA, restrictive right ventricle, and anomalous tricuspid valve. Subsequently, the patient underwent one-and-a-half ventricular palliation.

scholarly journals Ebstein anomaly, left ventricular hypertrabeculation and ventricular septal defect associated with a myh7 mutation

2021 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
B Korkmaz ◽  
U Aydogdu ◽  
D Inan ◽  
N Keles ◽  
O Yildirimturk
Keyword(s):  
Heart Failure ◽  
Ventricular Septal Defect ◽  
Medical Treatment ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Diseases ◽  
Left Ventricular ◽  
Congenital Heart Diseases ◽  
Splice Acceptor ◽  
Ebstein Anomaly

Abstract Funding Acknowledgements Type of funding sources: None. Ebstein anomaly is an extremely rare anomaly of <1% among all congenital heart diseases. Pathologically, the septal and / or posterior leaflet of the tricuspid valve has abnormal locations towards the right ventricular apex. Ebstein anomaly is especially accompanied by atrial septal defect, patent ductus arteriosus, wolf parkinson white syndrome and pulmonary atresia. Defects located in the interventricular septum are called the ventricular septal defect (VSD). They can be single or multiple and congenital or acquired. Isolated VSDs are the most common congenital anomaly in childhood and constitute 20-30% of all congenital heart diseases. VSD can be a part of major congenital malformations ,such as, fallot tetralogy, transposition of the major arteries, double ventricular right ventricle. Left ventricular noncompaction (LVNC) is a relatively common genetic cardiomyopathy, characterized by prominent trabeculations with deep intertrabecular recesses in mainly the left ventricle. Although LVNC often occurs in an isolated entity, it may also be present in various types of congenital heart disease . A combination of Ebstein anomaly, hypertrabeculation and ventricular septal defect is a rare condition. Case Report A 49-year-old male patient presented to the emergency room with shortness of breath and swelling of the legs. The patient had diagnosed an Ebstein anomaly while the military examination in 1988. Already it ‘s known that he has gout disease and uses colchicine but no family history of any disease. On examination of the patient, bilateral ral in respiratory sounds and +++ / +++ pretibial edema in the lower extremity were detected. On his electrocardiogram, the sinus rhythm with first-degree atrioventricular block was observed. The findings on his echocardiographic examination are ejection fraction 30-35% with global left ventricular hypokinesia, Ebstein anomaly (Figure ), perimembranous type VSD, atrial septal aneurysm type 2 and left ventricular hypertrabeculation. His blood table was normal. Medical treatment of heart failure was started for the patient who was interneed to the service. After getting clinical relief, the patient was discharged under medical treatment. Genetic tests were studied while  following up at the heart failure outpatient clinic. In the MYH7 gene, splice-acceptor-2 (PVS1) variation heterozygous was detected. This variant has not been seen in national data banks of genetics. Conclusion The MYH7 gene, localized on chromosome 14p12, is composed of 41 exons and encodes the b-myosin heavy chain, expressed in cardiac muscle. Mutations in the MYH7 gene have been identified in association with left ventricular hypertrabeculation and Ebstein anomaly. In conclusion, this is the first known report of Ebstein anomaly associated with the splice-acceptor-2 variation heterozygous of the MYH7 gene. Abstract Figure

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