P890Gene carriers of hypertrophic cardiomyopathy, what to expect over time

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
P Poveda Velazquez ◽  
J Basu ◽  
T Homfray ◽  
M Papadakis ◽  
E Behr ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Family History ◽  
Age Groups ◽  
Gene Mutations ◽  
Left Ventricular ◽  
Cascade Screening ◽  
Cardiac Symptoms ◽  
History Of ◽  
Mybpc3 Gene

Abstract Background Data on the natural history of genotype positive/phenotype negative (G+/P-) hypertrophic cardiomyopathy (HCM) patients identified as a part of genetic cascade screening in different age groups is limited. Purpose To describe the rate of conversion to overt HCM phenotype in G+/P- subjects in relation with the age who were identified in a specialized clinic in a single center. Methods We retrospectively identified 56 consecutive HCM G+/P− subjects followed in our center specialized clinic between Jan 2012-Jan 2019. Demographics, family history of sudden cardiac death (SCD) and presence of symptoms were collected. All of them underwent baseline investigations including ECG, echocardiogram and/or cardiac magnetic resonance (CMR) and 24 hour monitor at baseline and during follow up. Overt HCM phenotype was defined as left ventricular hypertrophy (LVH) ≥13mm in the echocardiogram or CMR. Results We identified 56 HCM G+/P− subjects from 34 different families. 22 subjects were ≤18 years old with a mean age of 11.6±0.9 years (IQR [P25-P75] 9–16 years) and 32 subjects were >18 years old with a mean age of 38.1±2.2 years (IQR [P25-P75] 27–48 years). Mean time of follow up was 35.2±34.4 months (IQR [P25-P75] 4.25–50.25 years). 60.7% (34) of them were female and 82.1% (46) were of Caucasian ethnicity. Most of the subjects with no evidence LVH were asymptomatic but small number had symptoms, 8.9% (5), and 3.6% (2) were treated with betablockers for palpitations. Family history of SCD was present in 57.1% (32) of the subjects and 35.7% (20) had a relative with an implantable cardiac defibrillator (ICD). MYBPC3 gene mutations were identified in 62.5% (35) of subjects, followed by MYH7 gene mutation in 23.2% (13) of the cases. None of the subjects under 18 year old developed HCM during the period of observation, however 7 subjects (21.9%), mean age 48.6±10.5 years, 71.4% (5) females, showed progression to HCM in the >18 years old group. All of them had pathogenic MYBPC3 gene variants. No differences were found in gender, ethnicity, symptoms or family history of SCD in the G+/P− vs HCM group. There were no differences on the presence of ECG abnormalities and no episodes of NSVT were recorded in any of the groups. Baseline E/e' values of those with new HCM vs G+/P− were higher (8.2±3.3 vs 5.6±1.7, p=0.014). Conclusions In our cohort, rate of progression to HCM phenotype was 21.9% of >18 years old HCM G+/P- subjects. The mean age at the time of developing the phenotype was 48.6±10.5 years old and all the patients were asymptomatic for cardiac symptoms. Echocardiographic E/e' values were increased. This data supports the need of life long follow up of this group of patients with ongoing clinical evaluation. Acknowledgement/Funding ESC clinical grant

scholarly journals Sarcomere mutation negative hypertrophic cardiomyopathy is associated with ageing and obesity

Open Heart ◽  
2021 ◽  
Vol 8 (1) ◽  
pp. e001560
Author(s):  
Alejandro E de Feria ◽  
Andrew E Kott ◽  
Jason R Becker
Keyword(s):  
Genetic Testing ◽  
Hypertrophic Cardiomyopathy ◽  
Family History ◽  
Myocardial Hypertrophy ◽  
Gene Mutations ◽  
Ventricular Outflow Tract ◽  
Left Ventricular ◽  
Left Ventricular Outflow ◽  
History Of ◽  
Clinical Phenotyping

BackgroundDespite advances in our understanding of the genetic causes of hypertrophic cardiomyopathy (HCM), a large portion of this patient population do not carry sarcomere gene mutations when screened. It remains largely unknown why patients without sarcomere mutations develop asymmetric myocardial hypertrophy.MethodsWe performed a retrospective analysis of probands with HCM who underwent genetic testing to determine if clinical phenotypes were different depending on sarcomere mutation status. A medical history, three generation family history and clinical phenotyping were performed on 127 probands with HCM. Genetic screening was performed using clinically available HCM genetic testing panels.ResultsWe found that probands with HCM with pathogenic sarcomere mutations were over three times more likely to have a family history of HCM (66% vs 17%, p<0.0001) and were diagnosed with HCM at a much younger age (32 vs 51 years old, p<0.0001). In contrast, probands with HCM without sarcomere mutations were significantly more obese (body surface area p=0.003, body mass index p=0.04 adjusted for age) and were more likely to present with left ventricular outflow tract obstruction (p=0.0483).ConclusionPatients with sarcomere mutation negative HCM present at an older age and are more obese compared with patients with sarcomere mutation positive HCM. The role of ageing and obesity in asymmetric myocardial hypertrophy warrants further investigation.

Abstract 2552: Hypertrophic Cardiomyopathy in Children: Do Adult Risk Factors for Cardiac Death Apply

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Jamie A Decker ◽  
Joseph W Rossano ◽  
E. O’Brian Smith ◽  
Bryan C Cannon ◽  
Sarah K Clunie ◽  
...  
Keyword(s):  
Risk Factors ◽  
Blood Pressure ◽  
Hypertrophic Cardiomyopathy ◽  
Family History ◽  
Blood Pressure Response ◽  
Left Ventricular ◽  
Pressure Response ◽  
Systemic Hypertension ◽  
Response To Exercise

Introduction : Annual mortality in children with hypertrophic cardiomyopathy (HCM) has been reported to be 1– 6%. Risk factors for death in adult HCM patients have been characterized; their application to pediatric HCM is unknown. The purpose of this study was to correlate adult risk factors with outcomes in our pediatric population using a standard management strategy. Methods : A retrospective cohort study of children with HCM was performed. Death and cardiac transplant were the primary outcomes. Diagnosis was based on asymmetric septal or concentric hypertrophy as determined by echocardiography. Exclusion criteria included: genetic syndrome, mitochondrial or metabolic disorder, infants of diabetic mothers, congenital heart disease, systemic hypertension, diagnosis >18 years of age, or follow-up <1 year. Results : From 1/1/85 to 10/1/06, 96 patients met inclusion criteria. Mean age at diagnosis was 10.6 ± 5.4 years. Mean follow-up was 6.5 ± 5.2 years. 11 patients had an adverse outcome (7 deaths, 4 transplants). Kaplan-Meier analysis predicts an 82% survival over 20 years. Evidence of left ventricular outflow tract obstruction (LVOTO) occurred in =6% of patients, syncope in 23% and a family history for malignant HCM in 17%. Aborted sudden death occurred in 6%. 10% had non-sustained ventricular tachycardia. 58% of patients underwent at least one exercise treadmill test. All patients were restricted from strenuous activity. 95% of patients were on a β-blocker or calcium channel blocker, with 10% on both. Additional intervention depended on symptoms, family history, and degree of LVOTO. 17% had an implantable defibrillator (ICD). 10% were given a pacemaker due to LVOTO, and 5% underwent left ventricular myectomy. Only extreme LVH (>6 z-scores for BSA) and a blunted blood pressure response to exercise were statistically significant for worse outcomes (both p<0.02). Conclusions : A low mortality/transplantation rate occurred in children with isolated HCM whose management consisted of exercise restriction and medication, with or without an ICD. Management that included myectomy was uncommon. Patients with extreme LVH and a blunted blood pressure response to exercise are high-risk individuals.

scholarly journals Routine orthostatic LVOT gradient assessment in patients with basal septal hypertrophy and LVOT flow acceleration at rest: please stand up

2019 ◽  
Vol 6 (1) ◽  
pp. K1-K6
Author(s):  
H C Sinclair ◽  
P Russhard ◽  
C H Critoph ◽  
C D Steadman
Keyword(s):  
Cardiac Output ◽  
Hypertrophic Cardiomyopathy ◽  
Family History ◽  
Cardiac Mri ◽  
Positive Family History ◽  
Left Ventricular ◽  
List Type ◽  
Patient Reported ◽  
Septal Hypertrophy ◽  
History Of

Summary A 70-year-old female with exertional dyspnoea was found to have basal septal hypertrophy (BSH), or a ‘basal septal bulge’, with evidence of mild left ventricular outflow tract obstruction (LVOT) at rest on her initial echocardiogram. She was usually fit and well with no significant past medical history. She had no history of hypertension. She had never smoked. There was no family history of hypertrophic cardiomyopathy (HCM). A cardiac MRI did not demonstrate any typical features of HCM. ECG showed sinus tachycardia with a rate of 101 bpm but was otherwise unremarkable. She was referred for exercise echocardiography to assess for latent LVOT obstruction. Prior to commencing exercise, her LVOT gradient was re-assessed at rest. Her LVOT gradients were 30 mmHg at rest, 49 mmHg during Valsalva and 91 mmHg on standing. A diagnosis of significant latent LVOT obstruction was made and the patient was started on bisoprolol, a cardioselective beta-blocker. Bisoprolol was slowly uptitrated from 1.25 mg to 5 mg once daily, following which the patient reported a significant improvement in her symptoms with an improved exercise capacity. Follow-up echocardiography demonstrated a dramatic reduction in LVOT gradient, with a maximum of 11 mmHg assessed both with Valsalva and on standing. This case is a reminder that patients with a ‘common’ basal septal bulge can develop significant LVOT obstruction, the symptoms of which may respond to pharmacological therapy. Orthostatic assessment of LVOT gradient using echocardiography should be considered during standard LVOT obstruction provocation manoeuvres such as a Valsalva. Learning points: Differentiation between basal septal hypertrophy (BSH) and hypertrophic cardiomyopathy (HCM) may be challenging. Key factors favouring HCM include a positive family history of HCM or sudden cardiac death, septal thickness >15 mm/posterior wall thickness >11 mm, systolic anterior motion of the anterior mitral valve (SAM), late gadolinium enhancement on cardiac MRI, a causative genetic mutation associated with HCM and an abnormal ECG. Significant LVOT obstruction may develop in patients with BSH and is potentially responsive to pharmacotherapy. Standing reduces venous return, resulting in decreased LV volume. Compensatory mechanisms to maintain cardiac output involve sympathetic nervous system activation leading to increased LV contractility and subsequent increased LVOT gradient. Significant LVOT obstruction may be unmasked by an orthostatic posture. Orthostatic LVOT gradient assessment should be part of the routine echocardiographic assessment of all patients with an increased LVOT gradient at rest. The post-prandial state has been associated with increased LVOT gradient due to splanchnic dilatation and the consequent increased cardiac output required to maintain blood pressure. Post-prandial status should therefore be considered when assessing LVOT gradient.

Value of Childhood Blood Pressure Measurements and Family History in Predicting Future Blood Pressure Status: Results From 8 Years of Follow-up in the Bogalusa Heart Study

PEDIATRICS ◽  
1986 ◽  
Vol 77 (6) ◽  
pp. 862-869 ◽  
Author(s):  
Charles L. Shear ◽  
Gregory L. Burke ◽  
David S. Freedman ◽  
Gerald S. Berenson
Keyword(s):  
Blood Pressure ◽  
Family History ◽  
Age Groups ◽  
Correlation Coefficients ◽  
Pressure Measurements ◽  
Bogalusa Heart Study ◽  
Heart Study ◽  
History Of ◽  
Family History Of Hypertension

The value of BP measurements and family history of cardiovascular disease in predicting future BP status was studied in 1,501 children, initially 2 to 14 years of age, who were examined four times during an 8-year period in the Bogalusa Heart Study. Correlation coefficients between year 1 and year 9 BPs were as follows for systolic and diastolic BPs, respectively: 0.41 and 0.35 (P &lt; .0001). These correlations were significant in all age groups. For children in the upper quartile of BP at any one prior examination, the percentage remaining in the year 9 upper quartile ranged from 41% to 52% for systolic BP and 35% to 44% for diastolic BP. Three serial BP measurements in the upper quartile increased the percentages remaining in the upper quartile to 68% for systolic BP and 62% for diastolic BP. Conversely, of those children not in the upper quartile of systolic BP at year 9, 96.8% did not have all three prior measurements in the upper quartile. Family history of hypertension was shown to independently predict year 9 systolic BP status. These results confirm the importance of serial BP measurements and family history of hypertension for the practicing physician.

scholarly journals The UK Paediatric Familial Hypercholesterolaemia Register: preliminary data

2016 ◽  
Vol 102 (3) ◽  
pp. 255-260 ◽  
Author(s):  
Uma Ramaswami ◽  
Jackie Cooper ◽  
Steve E Humphries
Keyword(s):  
Family History ◽  
Familial Hypercholesterolaemia ◽  
Age Groups ◽  
Density Lipoprotein ◽  
Statin Treatment ◽  
Baseline Data ◽  
Degree Relative ◽  
History Of ◽  
The Uk

BackgroundThe National Institute for Health and Care Excellence 2008 guidelines on the treatment and management of familial hypercholesterolaemia (FH) recommend that children with FH should be considered for statin treatment by the age of 10 years. The Paediatric FH Register was established in 2012 to collect baseline and long-term follow-up data on all children with FH in the UK.MethodsPaediatricians and adult lipidologists have been invited to enter baseline data on any child with a clinical diagnosis of FH using an electronic capture record.ResultsBaseline data is on 232 children (50% boys, 80% Caucasian), with an untreated mean (SD) total cholesterol of 7.61 (1.48) mmol/L and low-density lipoprotein cholesterol (LDL-C) of 5.67 (1.46) mmol/L. Overall 111/232 (47.8%) of the children were on statins. Children over the age of 10 years at the most recent follow-up were twice as likely to be on statin treatment than those under 10 years (57.6% (102/177) vs 23.1% (9/39), p=0.00009). In both age groups, those subsequently on statin treatment had significantly higher diagnostic total and LDL-C (overall 6.01 (1.46) mmol/L vs 5.31 (1.37) mmol/L, p=0.00007), and had stronger evidence of a family history of early coronary heart disease (CHD) in parent or first-degree relative (overall 28.4% vs 19.0%, p=0.09). In statin-treated children LDL-C level was reduced by 35% (2.07 (1.38) mmol/L) compared with a reduction of 5.5% (0.29 (0.87) mmol/L), p=0.0001 in those not treated. None of those on statin had measured plasma levels of creatine kinase, alanine aminotransferase and AST indicative of statin toxicity (ie, >2.5 times the upper limit of the normal range).ConclusionsThe data indicates that treatment decisions in children with FH are appropriately based on a stronger family history of CHD and higher LDL-C.

scholarly journals Predictive factors for requiring heart transplantation in patients with hypertrophic cardiomyopathy: data from a referral center

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
M Brufau-Cochs ◽  
M Ramos-Jovani ◽  
A Lopez Sainz ◽  
M Farrero ◽  
M A Castel ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Family History ◽  
Diastolic Dysfunction ◽  
Predictive Factors ◽  
Systolic Function ◽  
Pathogenic Mutation ◽  
Left Ventricular ◽  
Clinical Genetic ◽  
Referral Center

Abstract Background Heart transplant (HT) remains the last treatment option for patients with non-obstructive hypertrophic cardiomyopathy (HCM) who develop end-stage heart failure (HF). Early identification of patients who may require a HT in the future is crucial in order to advise them, establish the appropriate follow-up and determine the appropriate time to include them in the waiting list. Objectives Our study sought to find predictive factors related with requiring HT during follow-up in patients with HCM. Methods Consecutive patients with HCM referred to a HCM monographic clinic from 2018 to 2020 (HCM controls) and transplanted patients due to HCM in the same tertiary HT hospital since 2003 (cases) were included. Baseline (on the date of HCM diagnosis) and longitudinal data regarding clinical, genetic, ECG and echocardiographic variables were retrospectively evaluated. Follow-up was registered from HCM diagnosis to HT (in cases) or last medical check up (controls). Results A total of 157 patients (24 HCM-HT cases and 133 HCM controls) were included (45±19 yo; 57% male). At the time of MCH diagnosis (Table), cases were significantly younger than controls, were more frequently symptomatic and showed significantly higher BNP levels and more advanced diastolic dysfunction (larger left atrium, higher E/A ratio and lower e'); also, HCM-HT reported more family history and had higher proportion of pathogenic mutations (being MYH7 the most frequently involved). Left ventricular (LV) systolic function was slightly reduced in HCM-HT cases. In contrast, HCM controls were more frequently diagnosed by casual findings or family screening and had more LV outflow tract obstruction at first medical evaluation. LV maximal wall thickness (MWT) did not differ between groups. During a median follow-up since HCM diagnosis of 6.2 years (median follow-up of 8.9 and 7.1 years in cases and controls, respectively), HCM-HT cases presented a higher incidence of sustained ventricular tachycardia or ICD therapy (HR=4.0; CI95%:1.6–10.0 p=0.03) and HF admissions (HR=3.9; CI95%:1.8–8.1 p&lt;0.001). There were no cardiovascular deaths during follow-up. Conclusions The presence of symptoms in a young non-obstructive HCM patient, along with family history and a pathogenic mutation, should advice clinicians a closer follow-up and early transfer to a HT referral center, especially if associated with diastolic dysfunction and high BNP values. FUNDunding Acknowledgement Type of funding sources: None. Table 1

scholarly journals Clinical Presentation, Cardiac Magnetic Resonance Findings, and Prognosis of Patients with Arrhythmogenic Right Ventricular Cardiomyopathy – An Experience from Pakistan

2020 ◽  
Vol 10 ◽  
pp. 48
Author(s):  
Intisar Ahmed ◽  
Fateh Ali Tipoo
Keyword(s):  
Cardiac Magnetic Resonance ◽  
Family History ◽  
Magnetic Resonance ◽  
Right Ventricular ◽  
Clinical Presentation ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Left Ventricular ◽  
Ventricular Cardiomyopathy ◽  
History Of

Objectives: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart-muscle disease, characterized by fibro-fatty replacement and ventricular arrhythmias, that primarily affects the right ventricle (RV). We aimed to look at the clinical presentation, cardiac magnetic resonance (CMR) imaging findings and prognosis of patients with ARVC in Pakistan. Material and Methods: It is a retrospective observational study, 17 consecutive patients with CMR and other findings consistent with ARVC, were enrolled from 2010 to 2019 at a single center. Results: Out of 17 patients, 12 (70.6%) were male with a mean age of 33.5 ± 17.5 years. Family history of sudden cardiac death was present in 3 (17.7%) patients while one (5.9%) patient had family history of ARVC. Syncope was the first presenting symptom in eight (47.1%) patients. On 12 leads ECG, T wave inversion in precordial leads was found in 6 (35.4%) patients, and epsilon wave was present in only 3 (17.7%) patients. On echocardiogram, 13 (76.5%) patients had dilated RV with reduced systolic function. On CMR, majority of patients (n = 14, 82.4%) were found to have RV dilatation with regional dyskinesia and fatty infiltration, 9 (52.9%) of them had left ventricular involvement also. Follow-up was available for 14 patients (82.4%) with a mean follow-up period of 35.5 ± 19.7 months. Three (21.4%) of them died and 10 (71.4%) got admissions for heart failure during follow-up period. Conclusion: Arrhythmia related events are the main presenting symptoms of ARVC in this region, and left ventricular involvement in ARVC is not rare in this population. The mortality is relatively high, probably due to advanced disease at the time of presentation and less medical facilities available.

scholarly journals POSTERS (2)96CONTINUOUS VERSUS INTERMITTENT MONITORING FOR DETECTION OF SUBCLINICAL ATRIAL FIBRILLATION IN HIGH-RISK PATIENTS97HIGH DAY-TO-DAY INTRA-INDIVIDUAL REPRODUCIBILITY OF THE HEART RATE RESPONSE TO EXERCISE IN THE UK BIOBANK DATA98USE OF NOVEL GLOBAL ULTRASOUND IMAGING AND CONTINUEOUS DIPOLE DENSITY MAPPING TO GUIDE ABLATION IN MACRO-REENTRANT TACHYCARDIAS99ANTICOAGULATION AND THE RISK OF COMPLICATIONS IN PATIENTS UNDERGOING VT AND PVC ABLATION100NON-SUSTAINED VENTRICULAR TACHYCARDIA FREQUENTLY PRECEDES CARDIAC ARREST IN PATIENTS WITH BRUGADA SYNDROME101USING HIGH PRECISION HAEMODYNAMIC MEASUREMENTS TO ASSESS DIFFERENCES IN AV OPTIMUM BETWEEN DIFFERENT LEFT VENTRICULAR LEAD POSITIONS IN BIVENTRICULAR PACING102CAN WE PREDICT MEDIUM TERM MORTALITY FROM TRANSVENOUS LEAD EXTRACTION PRE-OPERATIVELY?103PREVENTION OF UNECESSARY ADMISSIONS IN ATRIAL FIBRILLATION104EPICARDIAL CATHETER ABLATION FOR VENTRICULAR TACHYCARDIA ON UNINTERRUPTED WARFARIN: A SAFE APPROACH?105HOW WELL DOES THE NATIONAL INSTITUTE OF CLINICAL EXCELLENCE (NICE) GUIDENCE ON TRANSIENT LOSS OF CONSCIOUSNESS (T-LoC) WORK IN A REAL WORLD? AN AUDIT OF THE SECOND STAGE SPECIALIST CARDIOVASCULAT ASSESSMENT AND DIAGNOSIS106DETECTION OF ATRIAL FIBRILLATION IN COMMUNITY LOCATIONS USING NOVEL TECHNOLOGY'S AS A METHOD OF STROKE PREVENTION IN THE OVER 65'S ASYMPTOMATIC POPULATION - SHOULD IT BECOME STANDARD PRACTISE?107HIGH-DOSE ISOPRENALINE INFUSION AS A METHOD OF INDUCTION OF ATRIAL FIBRILLATION: A MULTI-CENTRE, PLACEBO CONTROLLED CLINICAL TRIAL IN PATIENTS WITH VARYING ARRHYTHMIC RISK108PACEMAKER COMPLICATIONS IN A DISTRICT GENERAL HOSPITAL109CARDIAC RESYNCHRONISATION THERAPY: A TRADE-OFF BETWEEN LEFT VENTRICULAR VOLTAGE OUTPUT AND EJECTION FRACTION?110RAPID DETERIORATION IN LEFT VENTRICULAR FUNCTION AND ACUTE HEART FAILURE AFTER DUAL CHAMBER PACEMAKER INSERTION WITH RESOLUTION FOLLOWING BIVENTRICULAR PACING111LOCALLY PERSONALISED ATRIAL ELECTROPHYSIOLOGY MODELS FROM PENTARAY CATHETER MEASUREMENTS112EVALUATION OF SUBCUTANEOUS ICD VERSUS TRANSVENOUS ICD- A PROPENSITY MATCHED COST-EFFICACY ANALYSIS OF COMPLICATIONS & OUTCOMES113LOCALISING DRIVERS USING ORGANISATIONAL INDEX IN CONTACT MAPPING OF HUMAN PERSISTENT ATRIAL FIBRILLATION114RISK FACTORS FOR SUDDEN CARDIAC DEATH IN PAEDIATRIC HYPERTROPHIC CARDIOMYOPATHY: A SYSTEMATIC REVIEW AND META-ANALYSIS115EFFECT OF CATHETER STABILITY AND CONTACT FORCE ON VISITAG DENSITY DURING PULMONARY VEIN ISOLATION116HEPATIC CAPSULE ENHANCEMENT IS COMMONLY SEEN DURING MR-GUIDED ABLATION OF ATRIAL FLUTTER: A MECHANISTIC INSIGHT INTO PROCEDURAL PAIN117DOES HIGHER CONTACT FORCE IMPAIR LESION FORMATION AT THE CAVOTRICUSPID ISTHMUS? INSIGHTS FROM MR-GUIDED ABLATION OF ATRIAL FLUTTER118CLINICAL CHARACTERISATION OF A MALIGNANT SCN5A MUTATION IN CHILDHOOD119RADIOFREQUENCY ASSOCIATED VENTRICULAR FIBRILLATION120CONTRACTILE RESERVE EXPRESSED AS SYSTOLIC VELOCITY DOES NOT PREDICT RESPONSE TO CRT121DAY-CASE DEVICES - A RETROSPECTIVE STUDY USING PATIENT CODING DATA122PATIENTS UNDERGOING SVT ABLATION HAVE A HIGH INCIDENCE OF SECONDARY ARRHYTHMIA ON FOLLOW UP: IMPLICATIONS FOR PRE-PROCEDURE COUNSELLING123PROGNOSTIC ROLE OF HAEMOGLOBINN AND RED BLOOD CELL DITRIBUTION WIDTH IN PATIENTS WITH HEART FAILURE UNDERGOING CARDIAC RESYNCHRONIZATION THERAPY124REMOTE MONITORING AND FOLLOW UP DEVICES125A 20-YEAR, SINGLE-CENTRE EXPERIENCE OF IMPLANTABLE CARDIOVERTER DEFIBRILLATORS (ICD) IN CHILDREN: TIME TO CONSIDER THE SUBCUTANEOUS ICD?126EXPERIENCE OF MAGNETIC REASONANCE IMAGING (MEI) IN PATIENTS WITH MRI CONDITIONAL DEVICES127THE SINUS BRADYCARDIA SEEN IN ATHLETES IS NOT CAUSED BY ENHANCED VAGAL TONE BUT INSTEAD REFLECTS INTRINSIC CHANGES IN THE SINUS NODE REVEALED BY I (F) BLOCKADE128SUCCESSFUL DAY-CASE PACEMAKER IMPLANTATION - AN EIGHT YEAR SINGLE-CENTRE EXPERIENCE129LEFT VENTRICULAR INDEX MASS ASSOCIATED WITH ESC HYPERTROPHIC CARDIOMYOPATHY RISK SCORE IN PATIENTS WITH ICDs: A TERTIARY CENTRE HCM REGISTRY130A DGH EXPERIENCE OF DAY-CASE CARDIAC PACEMAKER IMPLANTATION131IS PRE-PROCEDURAL FASTING A NECESSITY FOR SAFE PACEMAKER IMPLANTATION?

EP Europace ◽  
2016 ◽  
Vol 18 (suppl 2) ◽  
pp. ii36-ii47
Author(s):  
T. Philippsen ◽  
M. Orini ◽  
C.A. Martin ◽  
E. Volkova ◽  
J.O.M. Ormerod ◽  
...  
Keyword(s):  
Heart Failure ◽  
Atrial Fibrillation ◽  
Ventricular Tachycardia ◽  
Hypertrophic Cardiomyopathy ◽  
Pacemaker Implantation ◽  
Left Ventricular ◽  
Day Case ◽  
Single Centre ◽  
Subcutaneous Icd

scholarly journals Vitamin D status and risk of type 2 diabetes in the Norwegian HUNT cohort study: does family history or genetic predisposition modify the association?

2021 ◽  
Vol 9 (1) ◽  
pp. e001948
Author(s):  
Marion Denos ◽  
Xiao-Mei Mai ◽  
Bjørn Olav Åsvold ◽  
Elin Pettersen Sørgjerd ◽  
Yue Chen ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Family History ◽  
Genetic Predisposition ◽  
Effect Modification ◽  
P Value ◽  
Family History Of Diabetes ◽  
Increased Risk ◽  
History Of

IntroductionWe sought to investigate the relationship between serum 25-hydroxyvitamin D (25(OH)D) level and the risk of type 2 diabetes mellitus (T2DM) in adults who participated in the Trøndelag Health Study (HUNT), and the possible effect modification by family history and genetic predisposition.Research design and methodsThis prospective study included 3574 diabetes-free adults at baseline who participated in the HUNT2 (1995–1997) and HUNT3 (2006–2008) surveys. Serum 25(OH)D levels were determined at baseline and classified as <50 and ≥50 nmol/L. Family history of diabetes was defined as self-reported diabetes among parents and siblings. A Polygenic Risk Score (PRS) for T2DM based on 166 single-nucleotide polymorphisms was generated. Incident T2DM was defined by self-report and/or non-fasting glucose levels greater than 11 mmol/L and serum glutamic acid decarboxylase antibody level of <0.08 antibody index at the follow-up. Multivariable logistic regression models were applied to calculate adjusted ORs with 95% CIs. Effect modification by family history or PRS was assessed by likelihood ratio test (LRT).ResultsOver 11 years of follow-up, 92 (2.6%) participants developed T2DM. A higher risk of incident T2DM was observed in participants with serum 25(OH)D level of<50 nmol/L compared with those of ≥50 nmol/L (OR 1.72, 95% CI 1.03 to 2.86). Level of 25(OH)D<50 nmol/L was associated with an increased risk of T2DM in adults without family history of diabetes (OR 3.87, 95% CI 1.62 to 9.24) but not in those with a family history (OR 0.72, 95% CI 0.32 to 1.62, p value for LRT=0.003). There was no effect modification by PRS (p value for LRT>0.23).ConclusionSerum 25(OH)D<50 nmol/L was associated with an increased risk of T2DM in Norwegian adults. The inverse association was modified by family history of diabetes but not by genetic predisposition to T2DM.

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