UNIT OF INHERITED CV DISEASES HEART CENTER FOR THE YOUNG AND ATHLETES A DPT OF CARDIOLOGY UNIVERSITY OF ATHENS

Size: px

Start display at page:

Download "UNIT OF INHERITED CV DISEASES HEART CENTER FOR THE YOUNG AND ATHLETES A DPT OF CARDIOLOGY UNIVERSITY OF ATHENS"

Bartholomew Parsons
5 years ago
Views:

1 UNIT OF INHERITED CV DISEASES HEART CENTER FOR THE YOUNG AND ATHLETES A DPT OF CARDIOLOGY UNIVERSITY OF ATHENS

2 ELECTRICAL STRUCTURAL Bradycardia Repolarisation anomalies Voltage criteria for chamber enlargement Arrhythmias Increased chamber wall thickness and cavity size FUNCTIONAL Enhanced diastolic filling Augmentation of stroke volume

3 Maron, N Engl J Med, 2003

4 HCM vs ATHLETES Differen'al*Diagnosis*Star'ng*Points* * * **!!ECHO:!LVH!in!black!athletes!(13!!16!mm)! ARRHYTHMIAS ECG : Inverted T-waves ARRHYTHMIAS

5 ATHLETE WITH LVH

6 HCM vs ATHLETES Differen'al*Diagnosis*Star'ng*Points* *ECHO:*LVH*in*black*athletes*(13* *16*mm)* ECG : Inverted T-waves ECG : Inverted T-waves ARRHYTHMIAS * *

SUBCLINICAL FORM The image cannot be displayed.

Restart your computer, and then open the file

7 SUBCLINICAL FORM The image cannot be displayed. Your computer may not have enough memory to open the image, or the image may have been corrupted. Restart your computer, and then open the file again. If the red x still appears, you may have to delete the image and then insert it again.

Neal K. Lakdawala et al., Am J Cardiol 2011 Q waves and repolarization abnormalities are the most discriminating ECG features of sarcomere mutation carriers with and without LVH.

8 Neal K. Lakdawala et al., Am J Cardiol 2011 Q waves and repolarization abnormalities are the most discriminating ECG features of sarcomere mutation carriers with and without LVH. However, owing to the limited sensitivity of ECG and echocardiographic screening, genetic testing is required to definitively identify at-risk family members. Distinguishing ECG abnormalities in G/LVH subjects. (A C) Q waves (black arrows) and repolarization changes (T-wave inversions [asterisks] and/or ST-segment depressions [arrowheads]) were significantly more common in G/LVH subjects than G normal control relatives. IVS interventricular septum thickness by echocardiography.

9 ATHLETES ECG Cardiovascular remodelling in the conditioned athlete is frequently associated with physiologic ECG changes. Abnormalities, however, may be detected which represent expression of an underlying heart disease which puts the athlete at risk of arrhythmic cardiac arrest during sport. EUROPEAN RECOMMENDATIONS Eur Heart J 2010

10 V1-V3 LVH & repolarization abnormalities V1-V2 QTc Distinct abnormalities (57 athletes 12.4%) 460 elite athletes

11 LONG DISTANCE RUNNING INVERTED T WAVES V1-V4, SOKOLOW,P-R:220

12 ELECTRICAL STRUCTURAL Bradycardia Repolarisation anomalies Voltage criteria for chamber enlargement Arrhythmias Increased chamber wall thickness and cavity size FUNCTIONAL Enhanced diastolic filling Augmentation of stroke volume

14 ATLETES HEART OR PATHOLOGICAL SUBSTRATE LVH ; LVEDD DILATED RV DILATED Abnormal ECG Arrhythmias

15 Large BSA Endurance Sports Male sex Black Ethnicity Adult athletes LVH 2% 13% Anabolic drugs

40 35 30 25 % 20 13% Black White 15 10 2% 5

16 % 20 13% Black White % Maximal LVWT

18 Uniform/homogeneous LV wall thickness Large/High normal LV Cavity (> 55) LA diameter < 50 Absence of systolic anterior motion of the anterior mitral valve leaflet Normal diastolic function

Echocardiographic Strain Imaging to Assess Early and Late Consequences of Sarcomere Mutations in Hypertrophic Cardiomyopathy Carolyn Y. Ho et al., Circ Cardiovasc Genet.

19 Echocardiographic Strain Imaging to Assess Early and Late Consequences of Sarcomere Mutations in Hypertrophic Cardiomyopathy Carolyn Y. Ho et al., Circ Cardiovasc Genet Diastolic dysfunction is an early consequence of sarcomere mutations, whereas systolic dysfunction results from mutations combined with subsequent pathological remodeling. Identifying mechanistic pathways triggered by these mutations may begin to reshape the clinical paradigm for treatment, based on early diagnosis and disease prevention. Representative 2D longitudinal strain (left) and strain rate (right) tracings from echocardiographic strain analysis in control, preclinical, and subjects with overt HCM. Measurements are taken from the interventricular septum. Tracings from the basal, mid, and apical segments are depicted in yellow, blue, and green, respectively. Arrows indicate peak values.

20 Increased left ventricular torsion in hypertrophic cardiomyopathy mutation carriers with normal wall thickness Iris K Rüssel et al., J Cardiovasc Magn Reson 2011 Carriers with normal wall thickness display increased LV torsion and TECS-ratio with respect to controls, which might be due to subendocardial myocardial dysfunction. Error bar plots of Peak LV Torsion (A) and TECS-ratio (B) (torsion to endocardial circumferential shortening) in the control and carrier group. The difference between both groups is significant.

21 HCM Athlete s Heart - Isolated Sokolow-Lyon LVH + + Pathological Q waves - + Marked ST segment depression + Left bundle branch block - + Deep T wave inversions in any lead in Caucasian athletes - + Deep T wave inversions in inferior or lateral -

Recommendations for interpretation of 12- lead electrocardiogram in the athlete Domenico Corrado, Antonio Pelliccia, Hein Heidbuchel, Sanjay Sharma, Mark Link, Cristina Basso, Alessandro Biffi,

22 Recommendations for interpretation of 12- lead electrocardiogram in the athlete Domenico Corrado, Antonio Pelliccia, Hein Heidbuchel, Sanjay Sharma, Mark Link, Cristina Basso, Alessandro Biffi, Gianfranco Buja, Pietro Delise, Ihor Gussac, Aris Anastasakis, Mats Borjesson, Hans Halvor Bjørnstad, François Carrè, Asterios Deligiannis, Dorian Dugmore, Robert Fagard, Jan Hoogsteen, Klaus P. Mellwig, Nicole Panhuyzen-Goedkoop, Erik Solberg Luc Vanhees, Jonathan Drezner, N.A. Mark Estes III Sabino Iliceto, Barry J. Maron Roberto Peidro Peter J. Schwartz Ricardo Stein Gaetano Thiene, Paolo Zeppilli and William J. McKenna The*document*provides*cardiologists*and*sports*medical*physicians*with*a*modern*approach*to* correct*interpreta'on*of*12llead*ecg*in*the*athlete*and*emerging*understanding*of*incomplete* penetrance*of*inherited*cardiovascular*disease.*when*the*ecg*of*an*athlete*is*examined,*the*main* objec've*is*to*dis'nguish*between*physiological*paserns*that*should*cause*no*alarm*and*those* that*require*ac'on*and/or*addi'onal*tes'ng*to*exclude*(or*confirm)*the*suspicion*of*an*underlying* cardiovascular*condi'on*carrying*the*risk*of*sudden*death*during*sports.*the*aim*of*the*present* posi'on*paper*is*to*provide*a*framework*for*this*dis'nc'on.*for*every*ecg*abnormality,*the* document*focuses*on*the*ensuing*clinical*worklup*required*for*differen'al*diagnosis*and*clinical* assessment.*when*appropriate*the*referral*op'ons*for*risk*stra'fica'on*and*cardiovascular* management*of*the*athlete*are*briefly*addressed.** ********************************************************************************************************************Eur!Heart!J!!2010!

23 Inconclusive echo images (poor windows) Unexplained ECG (deep T waves) Visualises the antero-lateral wall Diagnostic in apical HCM Reveals myocardial fibrosis

24 CMR With Late Gadolinium Enhancement in Genotype Positive Phenotype Negative Hypertrophic Cardiomyopathy Ethan J. Rowin et al., JACC, 2012 Ιn G+P- HCM patients, cardiac magnetic resonance (CMR) identified substantial late gadolinium enhancement (LGE) indicative of myocardial fibrosis (structural abnormality) Cine and contrast-enhanced cardiac magnetic resonance (CMR) in a 44-year-old asymptomatic genotype-positive/phenotype-negative HCM woman with -tropomyosin mutation (TPM1 Asp175Asn), who underwent cardiovascular evaluation after the diagnosis of HCM in her 21 year-old son (Figure 2). (A) Cardiac magnetic resonance (CMR) end-diastolic short-axis and (B) 2- chamber views demonstrate normal left ventricle (LV) wall thicknesses (maximal wall dimension, 12 mm). (C to F) Contrast-enhanced CMR imaging views after intravenous injection of gadolinium showing extensive areas of late gadolinium enhancement (LGE), including involvement of the anterior (thin arrows) and posterior ventricular septum (thick arrows) on (C) apical and (D) mid-lv short axis images, anterior (thin arrows) and posterior (inferior) LV free wall (thick arrows) on (E) 2-chamber long-axis images and (F) posterior septum (arrows) on 4-chamber long-axis image; global ejection fraction and segmental LV wall motion

26 HCM OR ATHLETE S HEART?

27 Δηµοσιεύσεις

28 Cardiopulmonary Exercise Testing Metabolic Parameters Metabolic Parameters HCM (n=27) Strength Athletes (n=19) Endurance Athletes (n=20) p-value peakvo2% 77.7± ± ±11.5* <0.001 AT% 38.1± ± ±10.9* <0.001 pvo2(ml/kg/min) 33.4± ± ±4.6* <0.001 AT (l/min) 1.2± ± ±0.4* <0.001 O 2 P (ml/beat) 13.9± ± ±2.7* <0.001 ΔVO 2 /ΔWR (ml/ min/w) 9.6± ± ±0.9 NS VE/VCO 2 slope 27.4± ± ±1.8* <0.001 Anastasakis A, Kotsiopoulou C, Rigopoulos A et al., Heart 2005; 91:

29 CET Metabolic Parameter Strength Athletes peakvo2% 73.9±6.7 AT% 34.1±5.4 pvo2(ml/kg/min) 31.5±2.7 AT (l/min) 1.1±0.2 O 2 P (ml/beat) 14.9±1.7 ΔVO 2 /ΔWR (ml/ min/w) 8.9±1.0 VE/VCO 2 slope 25.6±1.8 Findings that reassure athlete s heart (Sharma S et al., JACC 2000; 36(3):864) 1. Peak oxygen consumption (pvo 2 ) > 45ml/ kg/min or > 10-20% above the predicted maximum value 2. Anaerobic threshold (ΑΤ) > 55% of the predicted peakvo 2 3. Oxygen pulse (Ο 2 P) at peak exericse > 20 ml/beat Anastasakis A, Kotsiopoulou C, Rigopoulos A et al., Heart 2005; 91:

30 + TYPE OF SPORT STRENTH ATHLETES CET is an established method for differential diagnosis between patients with HCM and endurance athletes. CET has severe limitations when assessing strength athletes with athletic heart syndrome.

32 COST APPROACHABLE Diagnosis is available (1-2 months) False negatives GENETIC INTERPRENTATION

33 Differential Diagnosis on Hypertrophic Cardiomyopathy v s Athletic Heart Syndrome* * Athletes with abnormal ECG A.* Stage!A* Clinical!examinaEon* History* Family*history* Physical*examina'on* ECG* ECHO!!Doppler!!TDI! Blood!and!urine!tests* B.* Stage!B* Holter!rhythm* Cardiopulmonary!exercise!tesEng* Exercise!ECHO* Clinical!evaluaEon!of!the!family!(Stage!A!or!B?)* Detraining?* C.* Stage!C* Detraining?* Cardiac!MRI!!LGE* GeneEcs!

34 CASE A ATHLETE SYNDROME OR SUBCLINICAL FORM

35 SUBCLINICAL CARDIOMYOPATHY OR ATHLETIC HEART SYNDROME ATHLETE FOOT BALL Age 16 y old asymptomatic o/e = unremarkable Medical history (-) Family history (-)

37 MRI

38 Contrast echo

39 C/P EXERCISE TEST ATHLETE

40 decoditioning

41 NO FAMILY HISTORY OF SUDDEN DEATH OR HCM SO CLINICAL EVALUATION OF THE FAMILY

42 Cor Angio : normal

44 IHD (+) SD (-) CHD 78y CHD 48y Abn ECG Abn ECG

45 Athlete with abnormal ECG THE PUZZLE and the weight of evidence ASYMPTOMATIC YOUNG NORMAL ECHO ABNORMAL ECG (+) NORMAL HOLTER NORMAL C/P EXERCISE TEST NO FAMILY HISTORY OF HCM / SCD CLINICAL FAMILY SCREENING (+) DECODITIONING (?) SUSPECTED HCM

47 HCM IHD (+) SD (-) CH D 78 y CH D 48 y Ab n EC G Ab n

48 CASE B BLACK ATHLETE 25 y old Asymptomatic Clinical examination unremarkable Abnormal ECG Medical history = ICD for a while??????????

50 Physiology Pathology ST segment elevation Voltage LVH Inverted T waves in V1-V4 Deep T wave inversions in contiguous inferior leads Deep T wave inversions V5- V6 ST segment depression Pathological Q waves

58 C/P EXERCISE TEST

59 FURTHER EVALUATION HOLTER rhythm 48 h =54 Ve s C/P exercise test = No arrhythmias Normal BP response

60 BLACK ATHLETE WITH LVH THE PUZZLE and the weight of evidence Asymptomatic Clinical exam :unremarkable ECG inverted Τ waves LVWmax :15mm Diastolic function borderline for athlete pvo2: 31,2 ml/kgr/min (75% predicted) Few ventricular ectopics (holter 24 h) Family history NO SCD HCM?

61 E MAIL a never ending story

62 PEDIGREE 60Y?? Aborted SD ICD

63 BLACK ATHLETE WITH LVH THE PUZZLE and the weight of evidence ECG inverted Τ waves LVWmax :15mm Diastolic function borderline for athlete pvo2: 31,2 ml/kgr/min (75% predicted) Family history of aborted sudden cardiac death (brother). HCM Few ventricular ectopics (holter 24 h) RACE IS AN IMPORTANT FACTOR BUT REMAINS A PART OF THE PUZZLE

64 Asymptomatic Athlete with T-wave inversion Management pathways Scenario!A* DefiniEve!diagnosis!of!cardiac!disease!aUer!detailed! cardiac!evaluaeon* Scenario!B* V!Normal!cardiac!evaluaEon* V!No!family!history!of!inherited!cardiovascular!disease! or/and!sudden!cardiac!death* Scenario!C* V!Mild!cardiac!abnormaliEes!(inconclusive!diagnosis)* V!No!family!history!of!inherited!cardiovascular!disease* Scenario!D* V!Mild!cardiac!abnormaliEes!(inconclusive!diagnosis)* V!Family!history!of!inherited!cardiovascular!disease* Cessa'on*of*compe''ve*sports* Gene'c*tes'ng*for*family*management* Unrestricted*par'cipa'on*to*compe''ve*sports* Offer*gene'c*tes'ng?* Yearly*cardiac*evalua'on* Cardiac*evalua'on*of*first*degree*rela'ves* Unrestricted*par'cipa'on*to*compe''ve*sports* Offer*gene'c*tes'ng?* Yearly*cardiac*evalua'on* Cardiac*evalua'on*(ECG,*Echo)**of*first*degree* rela'ves*(>10yrs)* Restricted*par'cipa'on*to*mild*or*moderate* compe''ve*sports* Offer*gene'c*tes'ng* Yearly*cardiac*evalua'on* Cardiac*evalua'on*(ECG,*Echo)**of*first*degree* rela'ves*(>10yrs)*

65 Athletic Heart Syndrome v s Hypertrophic Cardiomyopathy: Major Minor criteria Demographics* MAJOR! MINOR! **Family*History*of*Hypertrophic*Cardiomyopathy* (FHCM)* *Female*gender* *Symptoms* *Family*History*of*Sudden*Cardiac*Death* (FHSCD)* *Systolic*murmur* ECG* MAJOR! MINOR! Structural! CharacterisEcs* *Abnormal*Q*waves*in*at*least*2*leads*from*II,*III,* AvF*(in*absence*of*lec*anterior*hemiLblock)*or*V1L V4*or*I,*AvL,*V5,*V6* *GNT* *Nega've*T*waves**II,*III,*AVf,*V4*L*V6*or*I,*AvL,* V4LV6* MAJOR! *ASH* *Complete*SAM* *LVOT*gradient*>*50mmHg* *LVEDD*<*45mm* *LVH*>*13mm*in*the*anterior*septum*or*posterior* wall* *LVH*>*15mm*in*the*posterior*septum*or*free* wall* *Nega've*T*waves*V1* *V3* *Deep*S*wave*V2*(>25mm)* *Complete*BBB*or*interventricular* conduc'on*defect*in*lv*leads* MINOR! LVH*of*12mm*in*the*anterior*septum*or* posterior*wall* Incomplete*SAM* ****LVOT*gradient*<*50mmHg* LA*>*45mm* LVW*S/P*>*1,4* RVH* Cardiac*MRI*gadolinium:*LGE*(+)*

66 Athletic Heart Syndrome v s Hypertrophic Cardiomyopathy: Major Minor criteria FuncEonal!CharacterisEcs* MAJOR MINOR Diastolic!FuncEon!(<20yrs)* *E<A* *Eα*<*9*cm/sec* Diastolic!FuncEon!(<20yrs)! *Eα*<*13*cm/sec* *Exercise*Echo:*LVOT*gradient* *3D*Echo:*Torsion* *2D*speckle*trecking:*diastolic*radial*strain* <*7cm/sec** Lab* MAJOR MINOR *Cardiopulmonary*Exercise*Tes'ng:* VO2max*>*50ml/kg/min,*or*>*120%* predicted*vo2max* (only*for*endurance*athletes)* * *Increased*BNP* Others* MAJOR MINOR *3*months*Detraining:*No*response* *Gene'cs:*Posi've*sarcomere*muta'on* Diagnosis or Strong Suspicion: 2 major 1 major 2 minor 4 minor

67 MESSAGE A ATHLETIC REMODELLING CAUCASIAN MEN BLACK RACE INVERTED T WAVES PART OF THE PROBLEM IMAGING IS ESSENTIAL CURRENT APPROACH POLYPARAMETRIC

MESSAGE B Adequate information for the athlete comes from the CLINICAL EVALUATION OF THE FAMILY CET has severe limitations when assessing strength

68 MESSAGE B Adequate information for the athlete comes from the CLINICAL EVALUATION OF THE FAMILY CET has severe limitations when assessing strength athletes with athletic heart syndrome. TYPE OF SPORT RACE is a part of the puzzle Distiquishing HCM from Athletic Heart is not just a story is an adventure

How NOT to miss Hypertrophic Cardiomyopathy? Adaya Weissler-Snir, MD University Health Network, University of Toronto

How NOT to miss Hypertrophic Cardiomyopathy? Adaya Weissler-Snir, MD University Health Network, University of Toronto Introduction Hypertrophic cardiomyopathy is the most common genetic cardiomyopathy,