Day 3 :
Keynote Forum
Guy Hugues Fontaine
Groupe Hospitalier Pitié-Salpêtrière, France
Keynote: New mechanisms of Atrial Fibrillation
Time : 10:00-10:40
Biography:
Guy H Fontaine has made 17 original contributions in the design and the use of the first cardiac pace makers in the early 60s. He has serendipitously identified ARVD during his contributions to antiarrhythmic surgery in the early 70s. He has developed the technique of Fulguration to replace surgery in the early 80s (technique used during 30 years in Paris). He has been one of the 216 individuals who have made a significant contribution to the study of cardiovascular disease since the 14th century, one of the 500 greatest geniuses of the 21th Century (USA Books), one of the 100 Life Time Achievement (UK Book). He has more than 900 publications including 201 chapters in text books.
He is the reviewer of 26 scientific journals both in basic and clinical science. He served as a member of the Editorial Board of Circulation for 5 years, after reviewing articles for this journal during decades. He has given 11 master lectures of 90 minutes each in inland China in 2014. He has recently developed new techniques of hypothermia for brain protection in OHCA and Stroke. This technique has been fortuitously used after resuscitation of his wife at home in June 2011 with absolutely no neurologic deficit despite 6 minutes of no flow. He has also invented a high-tech device which can be considered the ultimate in palliative care by preventing unexpectedly awaking after ordinary sleep. This device was mostly designed for major neurologic disorders. To know more about him introduce his full name on Google “Guy Hugues Fontaine”. His main lectures for the year 2016 have been in Cardiology and Neurology in: London, Dubai, Berlin, Baltimore, Philadelphia, Las Vegas, Tucson, Miami and Dubai again.
Abstract:
Atrial fibrillation is the most common arrhythmia in human. It is a cause of mortality and morbidity leading to one of the most important expenditure in the modern world. Especially, it is increasing even further because of prolongation of life due to the advances of medicine. A group from Paris has attempted to demonstrate a link between fat in the epicardium of atrial tissue to the production of fibrosis as a possible mechanism of atrial fibrillation (AF) [1]. In their discussion and conclusion the authors admit that the mechanism of AF is not completely understood. After an excellent review of the CMR techniques available for the identification of fat, fibrosis and water in the heart, they note a lack of spatial resolution of modern imaging techniques that result in their performing ex vivo CMR on two hearts. However, the modern digital microscope has an optimal resolution which could enable a more precise interpretation of the pathophysiology of AF.
The knowledge accumulated from my study of the histology of ARVD of the right ventricle from 73 patients clearly shows the topographic structure of fat, fibrosis and possible superimposed myocarditis. The atrial structure of the so-called “normal heart” is similar to that observed on the free wall of the right ventricle in ARVD. In addition to epicardial fat, there is fibrosis of two forms, interstitial fibrosis which can be the result of the genetic disorder of the disease or, replacement fibrosis which may be the result of myocarditis generally starting from the epicardium (epicardial-myocarditis as it is known by clinicians). A superimposed myocarditis may have a spectrum of presentation from the fulminant form leading to acute heart failure and death in a few days associated with invasion of both ventricles and atria by lymphocytes to that of a completely healed hyaline fibrosis. There may be intermediate aspects of myocarditis with a variable number of clusters of lymphocytes inside strands of fibrosis called the chronic-active form [2]. Also, there may be a genetic factor now considered to be of increasing importance in the understanding of ventricular cardiomyopathies [3,4]. In the background of atrial fibrillation [5] these cardiomyopathies can be present but quiescent without arrhythmias in the general population [6]. There can be additional complexity if we consider that myocarditis alone can cause fibrosis and adipocytes [2]. Therefore, myocarditis can produce an arrhythmogenic substrate. In addition, the acute form can be a trigger of arrhythmias associated with an increase of CRP [7]. The same gene that is responsible for the problem in atrial development can also explain the increased susceptibility of these hearts [8] to be affected by myocarditis in a single or in multiple episodes by entero and adeno viruses [9, 10]. Therefore, the prevention or treatment of lone atrial fibrillation may be due to two targets: protection against and/or suppression of viruses [11], and prevention of fibrosis [12]. In the future, the ideal approach to prevention of atrial fibrillation will be the modification of the human genome using the genetic approaches such as the CRISPRcas9 [13]. Finally, the results obtained in the treatment of atrial fibrillation may be expanded to the treatment of the whole heart since the atrium and ventricle are two parts of the same embryologic structure as has been recently confirmed by the finding of “atrial dysplasia” [14]. A simple new tool to evaluate patients at risk of atrial fibrillation and to follow the effect of treatment should be the use of the new 16 lead High Definition ECG recorder [6].
- Hypertension | Cardiomyopathies | Coronary Heart Diseases | Case reports on Cardiology | Heart Diseases | Heart Transplantation | Cardiac Regeneration
Location: Hungary
Chair
Wilhelm Grander
University Teaching Hospital, Austria
Session Introduction
Antonis Armoundas
Massachusetts General Hospital, USA
Title: A novel closed-loop method for real-time suppression of repolarization alternans in vivo: Implications for arrhythmia susceptibility
Biography:
Will to be updated soon...
Abstract:
Biji Soman
Meditrina Hospitals, India
Title: Angiographic pattern of coronary artery disease in pre-menopausal Indian women: A single centre study
Time : 11:20-11:45
Biography:
Major. Dr. Biji Soman graduated from Government Medical College, Trivandrum in 1996. Served in the Indian Army as a Short Service Commission (SSC) officer for 5 years and retired in 2002 in the rank of Major. Joined Sree Utharadom Thirunal (SUT) Hospital in Trivandrum, a reputed tertiary care cardiac centre as Registrar in Cardiology and Cardiac Catheterisation Lab. Went to United Kingdom in 2005 and trained at the prestigious Guy’s & St. Thomas’ NHS Trust Hospital, London in Cardiology. Did two years Post Graduate Diploma in Clinical Cardiology from Kerala Institute of Medical Sciences (KIMS), Trivandrum, passed out with Distinction and First Rank in Kerala state.
Obtained, Membership of Royal College of Physicians (MRCP UK) in 2013. Became substantive Consultant Cardiologist in 2014. Was elected as a collegiate member of Royal College of Physicians and Surgeons of Glasgow MRCPS (Glas) in 2014. Joined Meditrina Hospitals, Kottarakara as Consultant Cardiologist in March 2016.
Won awards for best paper presentations in National Conferences. Faculty in International and National conferences in Clinical Cardiology. Has several academic publications to his credit in both National and International peer reviewed Scientific Journals.
Abstract:
Background: Coronary Artery Disease (CAD) is increasingly becoming the disease of the young. Not much is known regarding the incidence, degree and pattern of CAD in pre-menopausal Indian women. Our aim was to study the prevalence and pattern of CAD among pre-menopausal women undergoing CAG.
Methods: Data of 100 women who underwent CAG for suspected CAD over 2 years were retrospectively analyzed. They were classified into pre-menopausal group (age ≤ 50 years) and post-menopausal group (age ≥ 60 years). Risk factor profile and coronary angiographic profile of these patients were studied and compared.
Results: The mean age of pre-menopausal women was 45.8 ± 4.2 years and 67.4 ± 6.4 years was the mean age of the post-menopausal women. Hypertension was the commonest risk factor in both the groups, with significantly higher incidence of hypertension in the post-menopausal group (24 vs. 41, p = 0.0029). Greater number of pre-menopausal women CAD with none of the risk factors, (15 vs. 04, p = 0.0004). There was a greater prevalence of obstructive CAD (31 vs. 15, p < 0.0013) among post-menopausal women, especially triple vessel disease (TVD) (3 vs. 15, p = 0.0018). Left anterior descending (LAD) artery is the most commonly affected vessel. Proximal segment was the most frequently affected segment of the coronary artery.
Conclusion: Pre-menopausal women had a higher percentage of angiographically normal epicardial coronaries and non obstructive CAD, and even those who had obstructive CAD; the prevalence of multi vessel disease was much less when compared with the post-menopausal women. The risk factor profile and pattern of coronary disease in pre-menopausal women is different from the conventional picture.
Keywords: Coronary angiography, Coronary artery disease, Pre-menopausal Women, Non-obstructive coronary artery disease.
Biography:
Will to be updated soon...
Abstract:
Background: The best treatment for coronary artery disease (CAD) in patients with multivessel disease is still subject of debate. The hybrid coronary revascularization (HCR) is a procedure that combines both the advantages of conventional coronary artery bypass surgery (CABG), with the revascularization of the left anterior descending artery (LAD) using the left internal mammary artery (LIMA) graft, without the use of cardiopulmonary bypass (CPB), with minimally invasive benefits of percutaneous treatment of remaining affect arteries.
Objective: To assess, in a pilot study, feasibility and safety of HCR I patients with multivessel CAD and to compare early results (within 30 days) of this approach to conventional surgery.
Methods: Prospective clinical study, aiming to include 60 patients, randomized in a 2:1 ratio for hybrid treatment (HCR group, n=40) or conventional CABG (CABG group, n=20). Patients must have three-vessel disease, with an intermediate or high Syntax Score (>22), in which, after exclusion of LAD lesion, the remaining Syntax Score become low (>22). The primary endpoint of the study is the feasibility of HCR in the absence of major adverse events (a compound of overall mortality, acute myocardial infarction (MI), stroke or unplanned revascularization).
Results: Between August 2014 and April 2017, 46 patients were included in the study (HCR=32 and CABG =14). The primary endpoint was observed in 3 patients (8%), all belonging to HCR group (12%), however, without statistical significance (p=0.54). There was no statistical difference between the groups (HCR vs. CABG, respectively) in terms of mortality (3.2% vs 0%), unplanned revascularization (7% vs 0%), MI (7% vs 0%), or any of the secondary outcomes evaluated. Patients who presented with any of the complications (12 patients 26%) had a tendency (not statistical significant) to be older (62 vs 59 years; p=NS), and to present with higher risk scores (EuroSCORE 1.40 vs 0.70; p=0,19) than patients without complications.
Conclusions: HCR is a feasible and safe technique when compared to conventional surgery, with similar complications rates. However, the study is underpowered due to the low number of patients included.
Krishna Prasad Irniraya
Bombay Hospital Institute of Medical Sciences, India
Title: RIMA – LIMA ‘Y’ grafting - An alternative method of total arterial grafting
Time : 13:45-14:10
Biography:
Krishna Prasad Irniraya is a Consultant Cardiothoracic Surgeon at Bombay Hospital Institute of Medical Sciences, Mumbai, India. He has completed his undergraduation in Medicine at the University of Calicut and his Surgical training at St. Martha’s Hospital, Bangalore. His cardiothoracic training is from Bombay Hospital Institute of Medical Sciences, attached to the University of Mumbai, India.
Abstract:
For total arterial grafting in CABG, the usual conduits used are the bilateral Internal Mammary Arteries i.e., LIMA & RIMA. Usually LIMA is used as a pedicle graft and the free RIMA on it to make the LIMA – RIMA ‘Y’ composite grafting. The LIMA stem is used to graft the LAD & Diagonal branches; whereas the RIMA stem is used to graft the OMs, PLB & PDA branches.
But in certain situations where the Pedicle LIMA cannot be used for e.g. in case of left Subclavian Artery stenosis, total arterial grafting can still be accomplished by certain modifications.
Instead of pedicle LIMA, RIMA pedicle to be used and the free LIMA onto it making the RIMA – LIMA ‘Y’ composite grafting. Here the RIMA stem is used to graft the LAD and the LIMA stem is used to graft the Diagonal, OMs, PLB & PDA branches. So complete arterial grafting can still be achieved.
Not only total arterial grafting can be achieved, we can avoid handling of the aorta for the proximal anastomosis when vein or radial artery conduits are used. There are certain situations where we need to use RIMA – LIMA ‘Y’ Grafting instead of LIMA – RIMA ‘Y’. So the indications, advantages & technical issues will be discussed.
Samwel Jacob Rweyemamu
Jakaya Kikwete Cardiac Institute, Tanzania
Title: Prevalence of human immunodeficiency virus, clinical presentation and related factors among adult patients with heart failure at Jakaya Kikwete cardiac institute
Time : 12:10-12:35
Biography:
Will to be updated soon...
Abstract:
Wilhelm Grander
University Teaching Hospital, Austria
Title: The association of FGF23 and inflammation in heart failure with normal kidney function
Time : 12:35-13:00
Biography:
Will be updated soon...
Abstract:
Background: Fibroblast growth factor-23 (FGF23) produced by osteocytes regulates calcium and phosphate homeostasis which are cornerstones for bone integrity. Recently, FGF23 was also found to be directly related with both severity and prognosis of heart failure. However, the mechanism of FGF23 regulation in heart failure, particularly in patients with preserved renal function is poorly understood.
Objective: The association of systemic inflammation (surrogated by CRP) and FGF23 regulation in patients with chronic heart failure and preserved renal function. Furthermore, we analyzed the prognostic ability of FGF23 and CRP in this population.
Methods: 221 stable non-ischemic heart failure patients (age ≥ 18) with reduced ejection fraction and an estimated glomerular filtration rate of more than 60 ml/min/1.73m² were analyzed. Fasting ct-FGF23, high sensitive CRP and a comprehensive panel of further biomarkers, as well as invasive hemodynamic measures from right heart catheterization, were used for univariate and multivariate regression analysis.
Results: In bivariate correlation analysis ct-FGF23 was correlated with CO (r= -0.42); NTproBNP (r=0.39); eGRF (r=-0.38) and CRP (r=0.37); for all of those p < 0.001. Multivariate linear regression analysis revealed CRP and CO as independently associated with ct-FGF23 (total model fit; r²=0.49; p <0.001). In time to event analysis both ct-FGF23 and CRP independently predicted transplant-free survival.
Conclusion: Our data indicates an association of systemic inflammation and FGF23 elevation in heart failure. Both, FGF23 and systemic inflammation independently predict transplant-free survival in non-ischemic heart failure patients with preserved kidney functions.
Rezvanieh Salehi
Tabriz Medical University, Iran
Title: What is the recommended approach for secondary mitral regurgitation?
Time : 14:10-14:35
Biography:
Rezvanieh Salehi was born in Tabriz, Iran in 1957. She was graduated from Tabriz Medical university in 1984. Then she could pass her internal medical course in 1989. She began to work in Tabriz Medical university as an assistant professor in 1989. She was an echocardiography fellowship in Milan, Italy, in 2000, passed the EACRI exam in 2013, and national board of echocardiography in 2016. Now, she is working as a professor of cardiology and an echo-cardiologist in Tabriz Medical University, Cardiovascular surgery ward (Shahid Madani Heart Hospital).
Abstract:
Secondary mitral regurgitation (MR) occurs in setting of normal mitral apparatus (leaf lets, papillary muscles and chordas). Left ventricular (LV) enlargement in dilated and ischemic cardiomyopathies lead to stretch of mitral valve (MV) annulus and displacement of the papillary muscles which in turn causes secondary MR. The phenomenon is also known as functional MR (FMR) and has been associated with poor outcome. Correction of ensuing MR with surgical or with newly developed trans-catheter approaches however, does not reverse the underlying LV pathology hence might not improve prognosis. The revisions made in the recently published American Heart Association (AHA)/ American college of Cardiology (ACC) guidelines on valvular heart disease (VHD) which changed the definition of secondary versus primary MR by reducing effective regurgitant orifice area (ROA) from 0.4 to 0.2 cm² and regurgitant volume (RV) from 60 to 30 ml creates considerable controversies. Redefining severe MR based on EOA or RV may cause significant clinical challenges. According to the guidelines, diagnosis of severe MR requires careful assessment of a constellation of clinical findings, in conjunction with echocardiographic and sometimes other imaging modalities. In case of FMR, ROA is crescentic rather than circular and measurements of PISA with 2D transthoracic echocardiography underestimates the true ROA. In revised new VHD guidelines there is no class I indication for secondary MR intervention but considering already damaged LV and underestimation of MR severity early intervention seems to be reasonable. Mitral annuloplasty, mitral clip, Alfieri stitch and mitral cardio-band are various treatment methods that are currently being used.
Makhabbat Bekbossynova
National Research Center for Cardiac Surgery, Kazakhstan
Title: The complex monitoring for diagnostic early heart rejection after transplantation
Time : 14:45-15:10
Biography:
Abstract:
Endomyocardial biopsy is a standard diagnostic tool for detection of graft rejection. However, it is known, that endomyocardial invasive biopsy (EMB) is not safe and can entail serious complications.
Objective: assess clinical and labor data with TD-indexes on revealing the heart rejection after transplantation.
Materials and methods: Since August 2011 there were 48 heart transplantations performed (10 are women in the age of 41±13.8 years from the donors of 42.5±13.5 years old. The 1st group - 33 patients (68,7%), which had undergone EMB and in 2nd group - 15 (31,2%) patients had not undergone EMB. All patients from both groups was performed of laboratory indicators (included CRP)and echocardiography (2D echo in a resting state, tissue Doppler (TDI) in a resting state (PW-systolic parameters S velocity, myocardial strain) daily still the discharge and then in I, III, VI month.
Results: There were no significant differences evidenced in both groups (I/II groups) on basic results of leukocytes, lymphocytes and CRP analysis.
One patient from the 2nd group after 19 month after TX had nonspecific clinical symptoms (palpitationand general fatigue), high level CRP (1.94 mg/l) and abnormal tissue Doppler (S' laterals 3.8 cm/c. S'medialis 3.9 cm/c. S'RV 3 cm/c.). And concentration of tacrolimus was low (6.7 ng/ml). We estimated this condition as graft rejection. After 10 days of timely administration of pulse therapy with solumedrol (1g per day i/v)and increased concentration of tacrolimus(13.8 ng/ml) improvement of clinical status, CRP decreased (0.1 mg/l) and tissue Doppler had better (S'lateralis 8 cm/c. S'medialis 7 cm/c. S'RV 7 cm/c). Patient was discharged after recovery.
Conclusion: Thus, we confirm that clinic, CRP and tissue Doppler (PW-systolic parametres S velocity) when patient has low concentration of tacrolimus can be used as non-invasive diagnostic tool of allograft rejection of patients after heart transplantation.
Mohamed Arab
Kuwait
Title: Role of vitamin D deficiency in coronary artery disease and cardiac dysfunction
Time : 15:10-15:35
Biography:
Abstract:
Introduction: Vitamin D (VD) deficiency may be an important neglected factor in the pathogenesis of cardiovascular disease and its risk factors.
Aim: Investigate the relation between VD level and both exercise parameters and left ventricular systolic and diastolic functions.
Methods: Fasting blood samples were collected from 70 patients with chest pain, and serum levels of vitamin D, glucose, and lipids were measured. They were divided into 2 groups according to VD level. All patients were scheduled for exercise treadmill test and echocardiography.
Results: 30 patients had normal serum VD. They had lower incidence of diabetes, lower levels of total cholesterol and S.LDL. Also, they had longer exercise time (0.37±0.05 vs. 0.31±0.06, P 0.002) with higher metabolic equivalents (METs) (9.52±1.33 vs. 8.49±1.45, P 0.003) and minimal ST-segment depression (0.61±0.11 mm vs. 2.41±1.08 mm, P <0.001). No difference between both groups regarding ejection fraction (P> 0.05) but there was a significant decrease in the E/A ratio of the mitral valve in patients with low VD (1.26±0.27 vs.1.01±0.31, P 0.001). Patients with normal exercise test were 35 patients (50%). They had higher VD level (57.60±9.29 nmol/l vs 34.44±8.11, P <0.001). There was a significant negative correlation between VD and total cholesterol, S.LDL, and the degree of ST-segment depression in exercise ECG. A significant positive correlation was found between VD and both METS and E/A ratio of the mitral valve. Using logistic regression analysis, VD, METs, and diabetes were predictors for both CAD and cardiac dysfunction. Serum VD less than ≤47 nmol/l can predict coronary artery disease (CAD) and cardiac dysfunction with high accuracy (94.4% and 71.4% respectively).
Conclusion: A strong correlation exists between vitamin D and some of CAD risk factors and reduced vitamin D could have a role in exercise parameters abnormalities developed during stress test and diastolic dysfunction seen in patients presented with chest pain.
Adiba Tarannum
Green Life Hospital Ltd., Bangladesh
Title: Knowledge, perception about cardiovascular risk factors among college students of Bangladesh
Time : 16:00-16:30
Biography:
Adiba Tarannum has completed her MBBS from Dhaka University and now pursuing her career in clinical nutrition. She also has a great interest in the public health context of clinical nutrition. She has attended few conferences regarding this. She is trying to establish a field of clinical nutrition in Bangladesh which is becoming major issues in developing countries. She is doing several researches regarding nutritional issues of cardiovascular disease and obesity.
Abstract:
Cardiovascular diseases are the most common causes of premature morbidity and mortality worldwide. Cardiovascular disease burden is increasing in developing country like Bangladesh which is creating adverse effect to whole health system. A cross-sectional, descriptive study among the higher secondary students of Bangladesh was performed using convenience sampling to assess the student’s knowledge and perception of cardiovascular risk factors and prevention. Students had a good knowledgeable about cardiovascular risk factors but did not perceive themselves at risk for cardiovascular disease. More than 60% students have one or more risk behavior related to cardiovascular diseases. The knowledge about cardiovascular diseases risk factors and prevention among the participants is high, but it has little role on practicing health life.
Yubi Lin
Medical School of South China University of Technology, China
Title: Whole genome sequence identified a rare homozygous pathogenic mutation of DSG2 gene in a familial arrhythmogenic cardiomyopathy involving both ventricles
Time : 16:30-16:55
Biography:
Yubi Lin has completed his PhD at the age of 30 years from Jinan University and postdoctoral studies from Guangdong Cardiovascular Institute, Medical School of South China University of Technology. He is the chief expert of Guangdong Province Family Doctor Association Telemedicine and the expert committee member of CMIA Remote Heart Monitoring Professional Committee of China. He has published more than 27 papers in reputed journals and has been serving as an editorial board member of repute.
Abstract:
Backgrounds: This study was designed to identify the pathogenic mutation in a Chinese family with arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) using the whole genome sequencing (WGS).
Methods and results: Probands II: 1 and II: 2 underwent routine examinations for diagnosis. Genomic DNA was extracted from the peripheral blood of family members and analyzed using WGS. The potentially pathogenic mutations that occurred in genes DSG2, PKP4, PRKAG2, FOXD4, CTTN and DMD, which were identified by SIFT or Polyphen-2 software as “Damaging”, were validated using Sanger sequencing. Probands II:1 and II:2 shared an extremely rare homozygous mutation in the DSG2 (p.F531C) gene, which was also demonstrated using intersection analysis of WGS data from the probands II:1 and II:2. Electron microscopy and histological staining of myocardial biopsies showed widened and destroyed intercalated discs; interrupted, atrophic and disarranged myocardial fibers; and hyperplastic interstitial fibers, collagen fibers and adipocytes were infiltrated and invaded.
Conclusions: A homozygous mutation of DSG2 p.F531C was identified as the pathogenic mutation in patients with ARVC/D involving both ventricles, as the result of widened and impaired intercalated discs; interrupted myocardial fibers; and abnormally hyperplastic interstitial fibers, collagen fibers and adipocytes.
S M Tajdit Rahman
Green Life Hospital, Bangladesh
Title: Congenital heart diseases among the hospital live birth in Bangladesh: A retrospective study in national institute
Time : 16:55-17:20
Biography:
S M Tajdit Rahman is a resident thoracic surgeon of national institute of Bangladesh. He has completed his MBBS from Sir Salimullah Medical College, Bangladesh and has a fascination for research in cardiac and thoracic diseases. He is doing some researches under renowned professor and has a great achievement in extracurricular activities since his childhood. He is the convener of first ever biomedical conference for students in Bangladesh. He has attended more than 15 conferences both home and abroad.
Abstract:
Congenital cardiac disease is not uncommon in daily medical practice. Many studies have been carried out worldwide, showing incidence variation in different parts of the world as 5-10/1000 live birth. In Bangladesh, a mere study was done in this respect. This retrospective study was conducted from the records preserved in hospital register, compiled by the author from pediatric cardiology and cardiac surgery department over a period of 4 years extends from 2010-2013 in National Institute of Cardio Vascular Diseases Hospital. 6520 cases of live births weighing more than 1500gm and age over 28th weeks of gestational period were recorded by clinical examination and echocardiography with color Doppler. This study showed that 196 babies out of 6520 live births had CHD as 30/1000 live births. Study also expressed that higher incidence of CHD in preterm baby than full term baby. Amongst the congenital Heart lesions, Atrial Septal Defect, Ventricular Septal Defect, Patent Ductus Arteriosus, Tetralogy of Fallot`s, TGA were commonest having 20.41%, 13.78%, 10.71%, 8.67% and 4.59% respectively. 15.81% of the patients had other associated somatic anomalies among which down syndrome was the commonest (7.14%). CHD of various patterns deserves crucial challenge among the newborns for management in Bangladesh. Various factors like high maternal age, drugs intake, antenatal infection, family history, gestational DM, down’s syndrome, mother having SLE are related to these diseases. Moreover, appropriate research can be accomplished taking large relevant sample gathering from different tertiary medical college hospitals to reveal actual scenario to prevent and treat the diseases.
Yubi Lin
Medical School of South China University of Technology, China
Title: Whole exome sequencing identified a pathogenic mutation in RYR2 in a chinese family with unexplained sudden death
Time : 17:20-17:45
Biography:
Yubi Lin has completed his PhD at the age of 30 years from Jinan University and postdoctoral studies from Guangdong Cardiovascular Institute, Medical School of South China University of Technology. He is the chief expert of Guangdong Province Family Doctor Association Telemedicine and the expert committee member of CMIA Remote Heart Monitoring Professional Committee of China. He has published more than 27 papers in reputed journals and has been serving as an editorial board member of repute.
Abstract:
Objective: This study aimed to identify the pathogenic mutation in a Chinese family with unexplained sudden death (USD) or occasional syncope.
Materials and Methods: Whole exome sequencing and gene chip sequencing were respectively conducted for two related patients. The genetic data was screened using the 1000 genomes project and SNP database (PubMed), and the identified mutations were assessed for predicted pathogenicity using the SIFT and Polyphen-2 algorithms.
Results: We identified a heterozygous mutation in the RYR2 gene at c.490C>T (p.P164S), highly conserved across all species, in three members of this family, while another heterozygous de novo mutation in SCN5A at c.5576G>A p.R1859H was detected in one family member. Both variants were verified by Sanger sequencing. Importantly, RYR2 p.P164S is associated with the risk of sudden cardiac death, such as in catecholaminergic polymorphic ventricular tachycardia.
Conclusions: A pathogenic mutation in RYR2 (p.P164S) is the likely cause of USD in a Chinese family associated with malignant ventricular arrhythmias. Whole exome and chip gene sequencing can be useful for discovering the genetic causes of USD.