Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome

AbstractBackground:Marfan syndrome is an autosomal dominant disorder of the connective tissue, whose cardinal features affect eyes, musculoskeletal, and cardiovascular system. Despite prevalence and natural history of cardiovascular manifestation are well known in adults, little is known about children and young adult patients. The aim of this study was to describe a well-characterised cohort of consecutive children and young patients with marfan syndrome, looking at the impact of family history and presence of bicuspid aortic valve on disease severity.Methods:A total of 30 consecutive children and young patients with Marfan syndrome were evaluated. All patients underwent a comprehensive clinical–instrumental–genetic evaluation. Particular attention was posed to identify differences in prevalence of cardiovascular abnormalities between patients with and without family history of Marfan syndrome or bicuspid aortic valve.Results:Of these 30 patients, family history of Marfan syndrome and bicuspid aortic valve were present in 76 and 13%, respectively. Compared to patients with family history of Marfan syndrome, those without showed higher prevalence of aortic sinus dilation (87 versus 32%, p-value = 0.009), greater aortic sinus diameters (4.2 ± 2.1 versus 1.9 ± 1.1 z score, p-value = 0.002), and higher rate of aortic surgery during follow-up (37 versus 0%, p-value = 0.002). Compared to patients with tricuspid aortic valve, those with bicuspid aortic valve were younger (3.2 ± 4.3 versus 10.7 ± 6.8 years old, p-value = 0.043), showed greater aortic sinus diameters (4.2 ± 0.9 versus 2.2 ± 1.6 z score, p-value = 0.033), and underwent more frequently aortic root replacement (50 versus 4%, p-value = 0.004).Conclusions:In our cohort of patients with Marfan syndrome, the absence of family history and the presence of bicuspid aortic valve were associated to severe aortic phenotype and worse prognosis.

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P6580Prevalence and clinical significance of latent Brugada syndrome in juvenile lone atrial fibrillation

European Heart Journal ◽

10.1093/eurheartj/ehz746.1168 ◽

2019 ◽

Vol 40 (Supplement_1) ◽

Author(s):

E Fathy ◽

L Gaido ◽

S Quaranta ◽

M Anselmino ◽

C Giustetto ◽

...

Keyword(s):

Atrial Fibrillation ◽

Family History ◽

Clinical Characteristics ◽

Young Patients ◽

P Value ◽

Lone Atrial Fibrillation ◽

History Of ◽

Group 2 ◽

Group 1

Abstract Introduction Brugada syndrome (BrS) cause about 20% of sudden cardiac death (SCD) in young healthy adults. Nearly 20% of Brugada patients develop supraventricular arrhythmias, mostly atrial fibrillation (AF). But whether lone AF may be the first clinical manifestation in young patients with latent BrS remains unclear. Purpose To estimate the prevalence and clinical significance of latent Brugada ECG pattern in young population (age ≤45 years) with lone AF. Methods A total of 78 patients with lone atrial fibrillation (mean age 35±7) were selected from 111 young patients with juvenile atrial fibrillation (age ≤45 years) between January 2015 and November 2017. All patients were clinically evaluated. Moreover 12 lead-24H Holter ECG and pharmacological class 1C antiarrhythmic drug (AAD) test were done for high suspicious cases of Brugada ECG. The diagnosis of Brugada ECG pattern was established according to the second consensus report criteria 2005 and since 2013, according to HRS/EHRA/APHRS expert consensus statement. Results According to the study protocol, we considered two groups of patients, group 1: 13 patients (16.7%; mean age 37±8) were diagnosed with type 1 Brugada ECG pattern (3 during class 1C AADs therapy and 10 induced by class 1C AAD test), group 2: 65 patients (83%; mean age 35±7) diagnosed as lone AF without type 1 Brugada ECG. The clinical characteristics of the two groups are described in table 1. Regarding to group 1, two patients had positive electrophysiological study with subsequent ICD implantation and genetic test for SCN5A mutation was positive in 3 patients. Table 1. G1, G2 clinical characteristics Patients characteristics Group 1 (n=13) Group 2 (n=65) P value Mean age (years) 37±8 35±7 0.42 Gender (Male %) 7 (54%) 54 (83%) 0.02 Family history of BrS 2 (15%) 0 (0%) 0.03 Family history of SCD 1 (8%) 1 (1.5%) 0.20 Syncope 4 (31%) 5 (8%) 0.02 Sick Sinus Syndrome 1 (8%) 7 (11%) 0.70 Paroxysmal AF 12 (92%) 54 (83%) 0.40 Suspected basal ECG for BrS 13 (100%) 28 (43%) <0.01 Statistical test is considered significant when p value <0.05. Conclusions Up to our knowledge this study is the first one that estimate the prevalence of latent BrS in juvenile lone AF patients. Young patients with lone AF had a high prevalence of latent BrS. Syncope, family history of SCD and family history of BrS are significant indicators of the presence of latent BrS in young patients with lone atrial fibrillation.

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Association of Dyslipidaemia in Young Patients with Recent Ischaemic Stroke

Bangladesh Journal of Neuroscience ◽

10.3329/bjn.v31i2.57379 ◽

2015 ◽

Vol 31 (2) ◽

pp. 56-64

Author(s):

Mostafa Hosen ◽

Md Rafiqul Islam ◽

Abu Nasir Rizvi ◽

Moniruzamman Bhuyian

Keyword(s):

Risk Factors ◽

Ischemic Stroke ◽

Young Adult ◽

Family History ◽

Serum Lipids ◽

Smoking Habit ◽

Young Patients ◽

Vascular Risk ◽

History Of ◽

Stroke In Young

Background: The relation between serum lipids and ischemic stroke remains controversial in young patients. The aim was to determine the serum lipid profile and the vascular risk factors for ischaemic stroke in a series of patients under 45 with an ischemic stroke and to compare them with a series of controls of the same age. Material and method: This case-control study was conducted in the Department of Neurology and Department of Biochemistry of BSMMU, Dhaka, between the period of July 2007 and June 2009 for duration of two years. A total number of 50 patients presented with recent ischemic stroke and 50 control person were enrolled in this study. All patients of both sexes, aged between 15 to 45 years presented with ischemic stroke, from 0 day to 1 month that was confirmed by CT scan of head/MRI of brain. Vascular risk factors were recorded and blood sample was collected from the cases and the controls and analyzed at the Dept. of Biochemistry, BSMMU for estimation of serum fasting lipid profile. Result: Multivariate analyses showed that other than serum lipids- family history of dyslipidaemia, family history of stroke or TIA, history of HTN and smoking habit are found significant risks for stroke in young adult. Conclusion: The present study does not confirm the role of serum lipids as risk factors for ischemic stroke in young adult. Other than serum lipids- family history of dyslipidaemia, family history of stroke or TIA, history of HTN and smoking habit are found significant risks for stroke in young adult. Bangladesh Journal of Neuroscience 2015; Vol. 31 (2): 56-64

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The Ross-Konno Procedure as Reoperative Treatment in a Young Adult with Congenital Aortic Stenosis

The Heart Surgery Forum ◽

10.1532/hsf98.20111091 ◽

2012 ◽

Vol 15 (4) ◽

pp. 182

Author(s):

Fotios A. Mitropoulos ◽

Meletios A. Kanakis ◽

Sotiria C. Apostolopoulou ◽

Spyridon Rammos ◽

Constantine E. Anagnostopoulos

Keyword(s):

Young Adult ◽

Aortic Valve ◽

Aortic Stenosis ◽

Aortic Valve Replacement ◽

Severe Aortic Stenosis ◽

Young Patients ◽

Uneventful Recovery ◽

Ross Procedure ◽

Congenital Aortic Stenosis ◽

Biological Prostheses

<p>Mechanical and biological prostheses are valid options when aortic valve replacement is necessary. The Ross procedure is also an alternative solution, especially for young patients.</p><p>We describe the case of a young patient with congenital aortic stenosis and bicuspid aortic valve who presented with dyspnea on exertion. An open commissurotomy was performed, and within 8 months the patient developed recurrent symptoms of severe aortic stenosis. He underwent redo sternotomy and a Ross-Konno procedure with an uneventful recovery.</p>

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Temporal trends in utilization of transcatheter aortic valve implantation and patient characteristics – a nationwide cohort study

European Heart Journal ◽

10.1093/ehjci/ehaa946.2618 ◽

2020 ◽

Vol 41 (Supplement_2) ◽

Author(s):

J.E Strange ◽

C Sindet-Pedersen ◽

G Gislason ◽

C Torp-Pedersen ◽

E.L Fosboel ◽

...

Keyword(s):

Aortic Valve ◽

Transcatheter Aortic Valve Implantation ◽

Temporal Trends ◽

Patient Characteristics ◽

P Value ◽

Transcatheter Aortic Valve ◽

History Of ◽

Aortic Valve Implantation ◽

Valve Implantation ◽

First Time

Abstract Introduction In recent years, there has been a surge in the utilization of transcatheter aortic valve implantation (TAVI) for the treatment of severe symptomatic aortic stenosis. Randomized controlled trials have compared TAVI to surgical aortic valve replacement (SAVR) in patients at high-, intermediate-, and low perioperative risk. As TAVI continues to be utilized in patients with lower risk profiles, it is important to investigate the temporal trends in “real-world” patients undergoing TAVI. Purpose To investigate temporal trends in the utilization of TAVI and examine changes in patient characteristics of patients undergoing first-time TAVI. Methods Using complete Danish nationwide registries, we included all patients undergoing first-time TAVI between 2008 and 2017. To compare patient characteristics, the study population was stratified according to calendar year in the following groups: 2008–2009, 2010–2011, 2012–2013, 2014–2015, and 2016–2017. Results We identified 3,534 patients undergoing first-time TAVI. In 2008–2009, 180 patients underwent first-time TAVI compared with 1,417 patients in 2016–2017, resulting in a 687% increase in TAVI procedures performed. During the study period, the median age remained stable (2008–2009: Median age 82 year [25th–75th percentile: 78–85] vs. 2016–2017: Median age 81 years [25th–75th percentile: 76–85]; P-value: 0.06). The proportion of men undergoing first-time TAVI increased over the years (2008–2009: 49.4% vs 2016–2017: 54.9%; P-value for trend: <0.05), also the proportion with diabetes increased (2008–2009: 12.2% vs. 2016–2017: 19.3%; P-value for trend: <0.05). The proportion of patients with a history of stroke decreased over the years (2008–2009: 13.9% vs. 2016–2017: 12.1%; P-value for trend: <0.05). The same trend was seen in patients with a history of myocardial infarction (2008–2009: 24.4% vs. 2016–2017: 11.9%; P-value for trend: <0.05), ischaemic heart disease (2008–2009: 71.7% vs. 2016–2017: 29.4%; P-value for trend: <0.05), and heart failure (2008–2009: 45.6% vs. 2016–2017: 29.4%; P-value for trend: <0.05). Conclusions In this nationwide study, there was a marked increase in the utilization of TAVI in the years 2008–2017. Patients undergoing first-time TAVI had a decreasing comorbidity burden, while the age of the patients at first-time TAVI remained stable. Funding Acknowledgement Type of funding source: None

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

BMJ Open Diabetes Research & Care ◽

10.1136/bmjdrc-2020-001948 ◽

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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Thoracic aorta 3D hemodynamics in pediatric and young adult patients with bicuspid aortic valve

Journal of Magnetic Resonance Imaging ◽

10.1002/jmri.24847 ◽

2015 ◽

Vol 42 (4) ◽

pp. 954-963 ◽

Cited By ~ 25

Author(s):

Bradley D. Allen ◽

Pim van Ooij ◽

Alex J. Barker ◽

Maria Carr ◽

Maya Gabbour ◽

...

Keyword(s):

Young Adult ◽

Aortic Valve ◽

Thoracic Aorta ◽

Bicuspid Aortic Valve ◽

Adult Patients

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Sporadic Pick's Disease in a 28-Year-Old Woman

The British Journal of Psychiatry ◽

10.1192/bjp.162.2.259 ◽

1993 ◽

Vol 162 (2) ◽

pp. 259-262 ◽

Cited By ~ 2

Author(s):

H. Rana Mowadat ◽

E. E. Kerr ◽

D. Stclair

Keyword(s):

Family History ◽

Psychiatric Disorder ◽

Neurodegenerative Disorders ◽

Young Patients ◽

Initial Diagnosis ◽

Cognitive Testing ◽

Pick's Disease ◽

Pick’S Disease ◽

Functional Psychosis ◽

History Of

Pick's disease was diagnosed in a 28-year-old woman without a family history of dementia (or other psychiatric disorder), after an initial diagnosis of functional psychosis and management with ECT and neuroleptics. The case illustrates the need for detailed neurological and cognitive testing and consideration of neurodegenerative disorders even in young patients.

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Younger age of patients with myocardial infarction correlates with higher number of relatives with history of premature atherosclerosis

10.21203/rs.3.rs-20951/v1 ◽

2020 ◽

Author(s):

Michał Ambroziak ◽

Katarzyna Niewczas-Wieprzowska ◽

Agnieszka Maicka ◽

Andrzej Budaj

Keyword(s):

Myocardial Infarction ◽

Family History ◽

Young Patients ◽

Significant Risk ◽

Control Group ◽

Premature Coronary Artery Disease ◽

Premature Atherosclerosis ◽

Global Issues ◽

Younger Age ◽

History Of

Abstract Background. Premature coronary artery disease belongs to the most pressing global issues in a modern cardiology. Family history appears to be one of the most important and significant risk factors in young patients with myocardial infarction (MI). The aim of the study was to investigate the role of family history of premature cardiovascular disease (CVD) in patients <50 years with myocardial infarction (MI) compared to patients ≥ 50 years with MI and to young healthy people.Methods. The studied group (MI<50) consisted of 240 patients aged 26-49 years with MI. The control groups consisted of 240 patients (MI≥50) with MI aged 50-92 years and 240 healthy people aged 30-49 years.Results. There were statistically significant differences between the MI<50 and MI≥50 and young healthy groups regarding family history of premature MI/ischaemic stroke and percent of patients with of ≥2 relatives affected including parents, children, siblings, siblings of parents and grandparents (10.8%, 2.9%, 3.7%, respectively; p<0.0001). There was a statistically significant negative correlation between the age of the first episode of MI and the number of relatives with a history of premature MI/stroke (r=0.249, p<0.05) within all MI patients. Statistically significant differences between MI<50 and MI≥50 groups as well as young healthy control group were revealed regarding prevalence of smoking, body mass index (BMI), LDL, HDL, triglycerides (TG) and glucose levels.Conclusions. Younger age of patients with myocardial infarction correlates with a higher number of relatives with a history of premature MI/ischemic stroke. Thus, the family history of premature atherosclerosis involving not only the first-, but also the second-degree relatives, seems to be valuable and could be considered in an individual CVD risk evaluation in young people.

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Major clinical risk factors for seizures in febrile children aged 6 to 60 months.

The Professional Medical Journal ◽

10.29309/tpmj/2020.27.05.3397 ◽

2020 ◽

Vol 27 (05) ◽

pp. 891-894

Author(s):

Shahid Ishaq ◽

Ejaz Mazari ◽

Fazal ur Rehman

Keyword(s):

Risk Factors ◽

Family History ◽

Febrile Seizures ◽

Study Groups ◽

Clinical Risk Factors ◽

P Value ◽

Chi Square ◽

Clinical Risk ◽

Significant Difference ◽

History Of

Objectives: Febrile seizures (FS) are the most common type of seizures and typically transpire in children with ages from 6 to 60 months. This study was planned to find out major clinical risk factors for seizures in febrile children who were aged 6 to 60 months. A total of 100 febrile children aged 6 to 60. Study Design: Analytical Study. Setting: Department of Neurology, Children’s Hospital and the Institute of Child Health, Multan. Period: From 1st April 2018 to 31st December 2018. Material & Methods: Group A had 40 children with febrile seizures while group B had 60 febrile children but without seizures. Demographic features along with family history of (H/O) epilepsy as well as family history of febrile seizure, types of seizure and infection diseases were noted and analyzed using SPSS version 20. Odds ratio was calculated for various risk factors. Chi square test was applied and P value < 0.05 was considered as significant. Results: Out of a total of 100 children, there were 54 (54.0%) male and 46 (46.0%) female. There was no statistical difference in terms of gender between the two groups (p value = 0.566). Overall, mean age of the children was 26.02 months with standard deviation of 13.4 months. There were 28 (70.0%) children who reported with simple seizures while complex seizures were found in 12 (30.0%) cases. Statistically significant difference (p value = 0.001) was seen in terms of types of infections between the two study groups. When risk of seizures for various risk factors was calculated, family H/O FS, family H/O epilepsy, and upper RTI were as 14, 7 and 3 times respectively and turned out to be the major risk factors for seizures in febrile children. Conclusions: Family H/O FS, family H/O epilepsy and upper RTIs are the major risk factors related with seizures in febrile children. Measures to prevent these risk factors can decrease the burden of FS in our population.

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