Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation

2013 ◽  
Vol 161 (12) ◽  
pp. 3187-3190 ◽  
Author(s):  
Audra L. Bettinelli ◽  
Theodorus J. Mulder ◽  
Birgit H. Funke ◽  
Katherine A. Lafferty ◽  
Sherri A. Longo ◽  
...  
Keyword(s):  
Ventricular Septal Defect ◽  
Septal Defect ◽  
Left Ventricular ◽  
Ebstein Anomaly

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

Echocardiographic Evaluation of Cardiac Remodeling After Surgical Closure of Ventricular Septal Defect in Different Age Group

2017 ◽  
Vol 2 (2) ◽  
pp. 69-74
Author(s):  
Mohammad Aminullah ◽  
Fahmida Akter Rima ◽  
Asraful Hoque ◽  
Mokhlesur Rahman Sazal ◽  
Prodip Biswas ◽  
...  
Keyword(s):  
Ventricular Septal Defect ◽  
Ejection Fraction ◽  
Cardiac Remodeling ◽  
Septal Defect ◽  
Left Ventricular ◽  
Age Group ◽  
Surgical Closure ◽  
Group A ◽  
Group B ◽  
Fractional Shortening

Background: Cardiac remodeling is important issue after surgical closure of ventricular septal defect.Objective: The purpose of the present study was to evaluate cardiac remodeling by echocardiography by measuring the ejection fraction, fractional shortening, left ventricular internal diameter during diastole (LVIDd) and left ventricular internal diameter during systole (LVIDs) after surgical closure of ventricular septal defect in different age group. Methodology: This prospective cohort studies was conducted in the Department of Cardiac Surgery at National Institute of Cardiovascular Disease (NICVD), Dhaka. Patient with surgical closure of VSD were enrolled into this study purposively and were divided into 3 groups according to the age. In group A (n=10), patients were within the age group of 2.0 to 6.0 years; age of group B (n=8) patients were 6.1-18.0 years and the group C (n=6) aged range was 18.1-42.0 years. Echocardiographic variables such as ejection fraction, fractional shortening, LVIDd, LVIDs were taken preoperatively and at 1st and 3rd month of postoperative values. Result: A total number of 24 patients was recruited for this study. The mean ages of all groups were 12.60±12.09. After 1 month ejection fraction were decreased by 5.97%, 6.71% and 5.66% in group A, group B and group C respectively. After 3 months ejection fraction were increased by 6.13%, 5.13% and 5.14% in group A, group B and group C respectively. After 1 month fractional shortening were decreased by 13.55%, 9.30% and 9.09% in group A, group B and group C respectively. After 3 months fractional shortening were increased by 7.23%, 7.35% and 4.55% in group A, group B and group C respectively. After 1 month LVIDd were increased by 1.97%, 1.91% and 1.32% in group A, group B and group C respectively. After 3 months LVIDd were decreased by 10.84%, 9.89% and 7.34% in group A, group B and group C respectively. After 1 month LVIDs were increased by 2.19%, 2.86% and 1.98% in group A, group B and group C respectively. After 3 months LVIDs were decreased by 11.68%, 10.97% and 8.87% in group A, group B and group C respectively.Conclusion: Cardiac remodeling occurred after surgical closure of ventricular septal defect and remodeling were more significant in younger age group. Journal of National Institute of Neurosciences Bangladesh, 2016;2(2):69-74

scholarly journals More in, better out? Successful valve-in-valve procedure of an iatrogenic ventricular septal defect following transcatheter aortic valve replacement: a case report

2021 ◽  
Vol 5 (5) ◽  
Author(s):  
Klaus-Dieter Hönemann ◽  
Steffen Hofmann ◽  
Frank Ritter ◽  
Gerold Mönnig
Keyword(s):  
Aortic Valve ◽  
Ventricular Septal Defect ◽  
Aortic Valve Replacement ◽  
Valve Replacement ◽  
Transcatheter Aortic Valve Replacement ◽  
Septal Defect ◽  
Left Ventricular ◽  
Heart Team ◽  
Transcatheter Aortic Valve ◽  
Valve In Valve

Abstract Background A rare, but serious, complication following transcatheter aortic valve replacement (TAVR) is the occurrence of an iatrogenic ventricular septal defect (VSD). Case summary We describe a case of an 80-year-old female who was referred with severe aortic stenosis for TAVR. Following thorough evaluation, the heart team consensus was to proceed with implantation via a transapical approach of an ACURATE neo M 25 mm valve (Boston Scientific, Natick, MA, USA). The valve was deployed harnessing transoesophageal echocardiographic (TOE) guidance under rapid pacing with post-dilation. Directly afterwards a very high VSD close to the aortic annulus was detected. As the patient was haemodynamically stable, the procedure was ended. The next day another TOE revealed a shunt volume (left-to-right ventricle) between 50% and 60%. Because the defect was partly located between the stent struts of the ACURATE valve decision was made to fix this leakage with implantation of a further valve and we chose an EVOLUT Pro 29 mm (Medtronic Inc., Minneapolis, MN, USA). The valve-in-valve was implanted 2–3 mm below the lower edge of the first valve, more towards the left ventricular outflow tract (LVOT) with excellent result: VSD was reduced to a very small residual shunt without any hemodynamic relevance. Discussion We suggest that an iatrogenic VSD located near the annulus may be treated percutaneously in a bail-out situation with implantation of a second valve that should be implanted slightly more into the LVOT to cover the VSD.

Retrograde left ventricular angiocardiography in ventricular septal defect

1963 ◽  
Vol 11 (4) ◽  
pp. 436-446 ◽  
Author(s):  
Rogelio Moncada ◽  
J.Pedro Bigoff ◽  
RenéA. Arcilla ◽  
Magnus H. Agustsson ◽  
Bessie L. Lendrum ◽  
...  
Keyword(s):  
Ventricular Septal Defect ◽  
Septal Defect ◽  
Left Ventricular

Arterial Switch Operation With Neoaortic Valve Replacement in a 13-Year Old Patient With Transposition of Great Arteries With Ventricular Septal Defect and Left Ventricular Outflow Tract Obstruction—A Case Report

2018 ◽  
Vol 11 (4) ◽  
pp. NP190-NP194
Author(s):  
Kuntal Roy Chowdhuri ◽  
Manoj Kumar Daga ◽  
Subhendu Mandal ◽  
Pravir Das ◽  
Amanul Hoque ◽  
...  
Keyword(s):  
Ventricular Septal Defect ◽  
Valve Replacement ◽  
Septal Defect ◽  
Left Ventricular Outflow Tract ◽  
Arterial Switch Operation ◽  
Ventricular Outflow Tract ◽  
Left Ventricular ◽  
Transposition Of Great Arteries ◽  
Switch Operation ◽  
Left Ventricular Outflow

The surgical management of d-transposition of great arteries (d-TGAs) with ventricular septal defect (VSD) and left ventricular outflow tract obstruction (LVOTO) is ever evolving and still remains a challenge because of wide anatomic variability, age of presentation, surgical options available, and their variable long-term results in different series. We describe a patient with d-TGA, VSD, and LVOTO who presented to us at 13 years of age and underwent an arterial switch operation along with neoaortic valve replacement with a mechanical prosthesis. The postoperative course was uneventful, and at hospital discharge, the echocardiogram was satisfactory. We present the pros and cons of this hitherto undescribed treatment option.

scholarly journals Echocardiographic evaluation of ventricular septal defect haemodynamics

2007 ◽  
Vol 135 (9-10) ◽  
pp. 541-546
Author(s):  
Vesna Miranovic
Keyword(s):  
Ventricular Septal Defect ◽  
Pulmonary Artery ◽  
Body Surface ◽  
Septal Defect ◽  
Left Ventricular ◽  
The Body ◽  
Control Group ◽  
Healthy Children ◽  
And Control ◽  
The Relationship

Introduction Ventricular septal defect (VSD) is an opening in the interventricular septum. 30-50% of patients with congenital heart disease have VSD. Objective The aim of the study was to determine the dependence of the left ventricular diastolic dimension (LVD), left ventricular systolic dimension (LVS), shortening fraction (SF), left atrium (LA), pulmonary artery truncus (TPA) on the body surface and compare their values among experimental, control and a group of healthy children. Values of maximal systolic gradient pressure (Pvsd) of VSD were compared with children from one experimental and control group. Method Children were divided into three groups: experimental (32 children with VSD that were to go to surgery), control (20 children with VSD who did not require surgery) and 40 healthy children. Measurements of LVD, LVS, SF, LA, TPA were performed in accordance to recommendations of the American Echocardiographic Association. The value of Pvsd was calculated from the maximal flow velocity (V) in VSD using the following formula: Pvsd=4xV? (mm Hg). Results For children from the experimental group, the relationship between the body surface and the variability of the LVD was explained with 56.85%, LVS with 66.15%, SF with 4.9%, TPA with 58.92%. For children from the control group, the relationship between the body surface and the variability of LVD was explained with 88.8%, LVS with 72.5%, SF with 0.42%, PA with 58.92%. For healthy children, the relationship between the body surface and the variabilitiy of the LVD was explained with 88.8%, LVS with 88.78%, SF with 5.25% and PA with 84.75%. There was a significant statistical difference between average values of Pvsd in the experimental and control group (p<0.02). Conclusion The presence of the large VSD has an influence on the enlargement of LVD, LVS, SF, TPA. The enlargement of the size of the pulmonary artery depends on the presence of VSD and there is a direct variation in the magnitude of the shunt. There is a relationship and significant dependence of the LVS and LVD on the body surface. There is no statistically significant dependence between SF and body surface.

scholarly journals Doubly committed subarterial ventricular septal defect with prolapsed right coronary cusp with moderate aortic regurgitation

2017 ◽  
Vol 10 (4) ◽  
pp. 240
Author(s):  
Redoy Ranjan ◽  
Asit Baran Adhikary ◽  
Mohammad Rashal Chowdhury ◽  
Md. Kabiruzzaman ◽  
Md. Mushfiqur Rahman
Keyword(s):  
Ventricular Septal Defect ◽  
Aortic Regurgitation ◽  
Septal Defect ◽  
Systolic Pressure ◽  
Failure To Thrive ◽  
Ventricular Outflow Tract ◽  
Left Ventricular ◽  
Pulmonary Artery Systolic Pressure ◽  
Coronary Cusp ◽  
Right Coronary Cusp

<p>A 4 year old girl was presented with the respiratory tract infection, breathlessness after taking meal, failure to thrive, abnormal movement of the chest on left side overlying the area of heart and systolic murmur. She developed these symptoms gradually for the last 3.5 years. Echocardiography revealed doubly committed subarterial ventricular septal defect with moderate aortic regurgitation. The size of the ventricular septal defect was 7 x 9 mm at the left ventricular outflow tract. The right coronary cusp of the aortic valve was prolapsed. Left atrium and left ventricle were dilated. The pulmonary artery systolic pressure was 35 mm Hg. The ventricular septal defect was closed with the standard surgical procedure using cardiopulmonary bypass followed by aortotomy and right atriotomy. Immediate post-operative period of this case was uneventful and the patient was discharged on 9<sup>th</sup> post-operative day. Follow-up echocardiography showed no residual ventricular septal defect or aortic regurgitation and the ventricular function was good.</p>

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