HCM GUIDELINES ESC 2014 HYPERTROPHIC CARDIOMYOPATHY ASYMPTOMATIC PATIENT
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1 HCM GUIDELINES ESC 2014 HYPERTROPHIC CARDIOMYOPATHY ASYMPTOMATIC PATIENT Division of Inherited Cardiac Diseases Heart Center for the Young and Athletes A Dpt of Cardiology University of Athens
2 ASYMPTOMATIC PTS WITH TYPICAL HCM INHERITED CV DISEASES SD FAMILIES Clinical Cardiology MOLECULAR CARDIOLOGY Genetics FAMILY SCREENING TYPICAL DISEASE SUBCLINICAL DISEASE GENE CARRIER
3 HYPERTROPHIC CARDIOMYOPATHY PREVENT THE COMPLICATION
4 Asymptomatic HCMpts characteristics and complication Sudden cardiac death CVA LVOTgradient Aneurysm Mildly impaired LV function Asymptomatic Endocarditis End stage HCM - systolic heart failure
5 ESC GUIDELIN ES IN HCM 2014 ARBITRATORS MRI LGE APICAL ANUERYSM EF <50% DOUBLE MUTATION ABPR EPS?
6 HCM pts in sinus rhythm and dilated left atrium HCM GUIDELINES 2014
7 HOCM ASYMPTOMATIC MYECTOMY OR SEPTAL ABLATION NOT RECOMMENDED.
8 TREATMENT in asymptomatic B BLOCKERS? VERAPAMIL? HIGH RISK - ICD LA > 45mm - ANTICOAGULATION? HOCM MYECTOMY OR SEPTAL ABLATION NOT RECOMMENDED
9 Network for the management of inherited CV diseases and SCD prevention in the Young INHERITED CV DISEASES SD FAMILIES Clinical Cardiology MOLECULAR CARDIOLOGY Genetics FAMILY SCREENING TYPICAL DISEASE SUBCLINICAL DISEASE GENE CARRIER
10 ESC HCM GUIDELINES 2014
11 ESC HCM GUIDELINES 2014
12 ESC HCM 2014 Pedigree Symptoms Physical exam ECG Laboratory Echo/MRI Other Autsomal dominant Autosomal recessive X-linked-Dystrophin, Danon. Maternal Deafness (AFD, Epicardin) Muscle pains/weakness (Dystrophin) Paraesthesia Muscle weakness Postural hypotension Rash (lentigenes, angiokeratomata) Ocular Premature conduction disease Pseudo-infarct pattern Creatinine kinase (dystrophic, Danon, Desmin) Serum creatinine Proteinuria Ferritin Lactate Pattern of hypertrophy Valve disease Pericardial effusion Pattern of gadolinium hyperenhancement Exercise test: premature acidosis Endomyocardial biopsy
13 DIAGNOSTIC WORK UP IN CARDIOMYOPATHIES SIMPLE LAB TESTS RED FLAGS
14 DANON DISEASE I:1 I:2 I:3 I:4 II:1 II:2 II:3 II:4 II:5 III:1 III:2 LIVER ENZYMES
15 HCM- FABRY DISEASE angiokeratoma PREECXITATION LAB TEST PROTEINOURIA A GALACTOSIDASE 3 8 y 8 3 Α y ρρ 3 υθ 7 μί y ες 67 y AF- ΑΕΕ- 60 Θάνα y τος PA 83y F- M R- AY AY Σ Ν AY 8 3 y INHERITANCE GENETICS CONCENTRIC MILD LVH LYMPHOEDEMA
16 ASYMPTOMATIC HCM PTS WITH SUBCLINICAL FORM INHERITED CV DISEASES SD FAMILIES Clinical Cardiology MOLECULAR CARDIOLOGY Genetics FAMILY SCREENING TYPICAL DISEASE SUBCLINICAL DISEASE GENE CARRIER
17 SUBCLINICAL FORM OF HCM DUE TO EVOLUTION
18 Mutation: Arg286Cys SUBCLINICAL FORM OF HCM DUE TO PENETRATION Q waves
19 athletic screening pre surgery evaluation, family screening ATHLETE FOOTBALL Age 16 y old asymptomatic o/e = unremarkable Medical history (-) Family history (-)
20 Contrast echo
21 MRI: no fibrosis LVEDD:50 LVWmax:9-10
22 Cor Angio : normal
23 IHD (+) SD (-) CHD 78y CHD 48y Abn ECG Abn ECG
24 Athlete with abnormal ECG THE PUZZLE and the weight of evidence ASYMPTOMATIC YOUNG ECHO LVEDD=50 mm,tdi:ea=10 ABNORMAL ECG (+) NORMAL HOLTER rhythm NORMAL C/P EXERCISE TEST NO FAMILY HISTORY OF HCM / SCD CLINICAL FAMILY SCREENING (+) DECODITIONING (?) SUSPECTED HCM
25 MAJOR RISK FACTORS LVH.30 OR Z SCORE >6 UNEXPLAINED SYNCOPE NSVT FHSD
26 HCM GENETICS IHD (+) SD (- ) CH D 78 y CH D 48 y Ab n EC G Ab n E
27 ASYMPTOMATIC HCM NORMAL GENE CARRIERS INHERITED CV DISEASES SD FAMILIES Clinical Cardiology MOLECULAR CARDIOLOGY Genetics FAMILY SCREENING TYPICAL DISEASE SUBCLINICAL DISEASE GENE CARRIER
28 Normal Gene carriers Close f/u Normal ECHO LOW RISK Normal ECG Athletic activity????? u USA - EU
29 TAKE HOME MESSAGE HCM ASYMPTOMATIC PTS DIAGNOSIS : MULTIFACTORIAL GENETIC TESTING IS RECOMMENDED HCM ESC 2014 RISK STRATIFICATION ESC RISK MODEL 2014 Dilated LA - risk of AF Apical Aneurysm risk of VA s Mildly impaired EF risk of VA s MANAGEMENT OF SUBCLINICAL FORMS like the typical NORMAL GENE CARRIERS SEEM SAFE F/U every year
30 Καθ. Δ Τουσουλης
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