Thirty-year follow-up of carnitine supplementation in two siblings with hypertrophic cardiomyopathy caused by primary systemic carnitine deficiency

2012 ◽  
Vol 159 (1) ◽  
pp. e14-e15 ◽  
Author(s):  
Shintaro Kishimoto ◽  
Kenji Suda ◽  
Hironaga Yoshimoto ◽  
Yozo Teramachi ◽  
Hiroshi Nishino ◽  
...  
Author(s):  
M.D. Levitan ◽  
J.T. Murphy ◽  
W.G. Sherwood ◽  
J. Deck ◽  
G.M.J. Sawa

Abstract:We report the case of a patient who at age 39 first developed an episode of muscle weakness and transient ketoacidosis with biopsy proven fatty infiltration of the liver. Over the next several years, myopathy ensued; biopsy revealed extensive deposition of lipid globules in type 1 muscle fibres. Further investigations established the diagnosis of systemic carnitine deficiency (SCD) with skeletal muscle, hepatic, and cardiac involvement. The patient has benefited from L-carnitine supplementation. Our case represents an unusually late onset of SCD and highlights the necessity, when appropriate, of a high index of suspicion of this rare but treatable disorder.


Author(s):  
Berna Seker Yilmaz ◽  
Deniz Kor ◽  
Neslihan Onenli Mungan ◽  
Sevcan Erdem ◽  
Serdar Ceylaner

AbstractSystemic primary carnitine deficiency is an autosomal recessive disorder caused by the deficiency of carnitine transporter. Main features are cardiomyopathy, myopathy and hypoglycemic encephalopathy. We report a Turkish case with a novel


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 ◽  
...  

2021 ◽  
Vol 28 (Supplement_1) ◽  
Author(s):  
J Basu ◽  
S Jayakumar ◽  
C Miles ◽  
G Parry-Williams ◽  
H Maclachlan ◽  
...  

Abstract Funding Acknowledgements Type of funding sources: Other. Main funding source(s): Cardiac Risk in the Young Background Moderate intensity exercise training in older patients with hypertrophic cardiomyopathy (HCM) can improve functional capacity, without significant harm. However, younger patients are attracted to high intensity training (HIT) regimes. The SAFE-HCM study demonstrated that an individually tailored, HIT programme in young patients with HCM was feasible, and provided both health and psychological benefits, without an increase in the burden of arrhythmia. Purpose To assess whether observed benefits of a HIT programme in young patients with HCM are sustained at 6 months. Methods Eighty patients with HCM (45.7y+/-8.6) underwent baseline clinical and psychological assessment. Individuals were randomised to a 12-week HIT programme (n = 40) or usual care (n = 40). Baseline evaluation was repeated at 12 weeks (T12). Feasibility, safety, health and psychological benefits were assessed. At 12-weeks individuals were encouraged to continue with the frequency and intensity of physical activity (PA) achieved at the end of the cardiac rehabilitation programme. Participants in the exercise arm were invited to follow-up at 6 months (T6m). Results The majority (83%) of participants completed the 12-week study. At T12 there was no significant difference between groups in the composite arrhythmia safety outcome (p = 0.99). The indices of exercise capacity were significantly improved in the exercise compared to the control group; peak VO2 (+3.7ml/kg/min [CI 1.1,6.3], p = 0.006), VO2/kg at anaerobic threshold (VO2/kgAT) (+2.44ml/kg/min [CI 0.6,4.2], p = 0.009), time to AT (+115s [CI 54.3,175.9], p < 0.001) and exercise time (max ET) (+108s [CI 33.7,182.2], p = 0.005). The exercise group also demonstrated greater reduction in systolic BP (-7.3mmHg [CI -11.7,-2.8], p = 0.002), BMI (-0.8kg/m2 [CI-1.1,-0.4], p < 0.001), anxiety (-2.6 [CI-3.6,-1.6], p= <0.001) and depression (-1.1 [CI -2.0,-0.2], p = 0.015) scores. At T6m patient reported exercise adherence was comparable to baseline PA in 33/34 of the exercise group attending for follow up. Most exercise gains dissipated with the exception of time to AT (p = 0.002), max ET (p = 0.003), VO2/kgAT (p = 0.04) and anxiety score (p < 0.001) (Figure 1). There were no sustained episodes of atrial or ventricular arrhythmias. The incidence of NSVT did not differ between time points (p = 0.09). Conclusion A 12-week HIT programme in young patients with HCM offers considerable gains in fitness and psychological outcomes, with no increase in arrhythmic burden. At T6m exercise levels as well as most physiological adaptations and health benefits returned to baseline, as seen in other studies when formal participation in an exercise programme comes to an end. This highlights the importance of the implementation of strategies to encourage ongoing engagement in PA. Potential solutions include identification of barriers to exercise, as well as adoption of novel tele-rehabilation approaches. Abstract Figure 1 Sustained benefits at T6m


2013 ◽  
Vol 34 (suppl 1) ◽  
pp. P1201-P1201
Author(s):  
P. A. Vriesendorp ◽  
A. F. L. Schinkel ◽  
M. A. Van Slegtenhorst ◽  
M. W. Wessels ◽  
F. J. Ten Cate ◽  
...  

2008 ◽  
Vol 30 (3) ◽  
pp. 343-346 ◽  
Author(s):  
Tomoyuki Miyamoto ◽  
Hitoshi Horigome ◽  
Satoru Kawano ◽  
Ryo Sumazaki

1990 ◽  
Vol 13 (3) ◽  
pp. 192-194 ◽  
Author(s):  
J. Bautista ◽  
E. Rafel ◽  
A. Martinez ◽  
I. Sainz ◽  
J. Herrera ◽  
...  

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