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HCM GUIDELINES – ESC 2014HYPERTROPHIC CARDIOMYOPATHY
ASYMPTOMATIC PATIENT
Division of Inherited Cardiac DiseasesHeart Center for the Young and Athletes
A Dpt of Cardiology – University of Athens
ASYMPTOMATIC PTS WITH TYPICAL HCM
INHERITED CV DISEASESSD FAMILIES
Clinical Cardiology
GeneticsMOLECULARCARDIOLOGY
FAMILY SCREENING
TYPICALDISEASE
SUBCLINICALDISEASE
GENE CARRIER
HYPERTROPHIC CARDIOMYOPATHY
PREVENT THE COMPLICATION
Asymptomatic HCMpts characteristics and complication
►Sudden cardiac death
►CVA
►LVOTgradient
►Aneurysm
►Mildly impaired LV function
►Endocarditis
►End stage HCM - systolic heart failure
Asymptomatic
ESC
GUIDELIN
ES IN
HCM 2014MRI – LGE
APICAL ANUERYSM
EF <50%
DOUBLE MUTATION
ABPR
EPS ?
ARBITRATORS
HCM pts in sinus rhythm and dilated left atrium
HCM GUIDELINES
2014
HOCM ASYMPTOMATIC
MYECTOMY OR SEPTAL ABLATION
NOT RECOMMENDED .
TREATMENT in asymptomatic
►B BLOCKERS ?
►VERAPAMIL ?
►HIGH RISK - ICD
► LA > 45mm - ANTICOAGULATION ?
► HOCM – MYECTOMY OR SEPTAL ABLATION NOT RECOMMENDED
Network for the management of inherited CV diseases and SCD prevention in the Young
INHERITED CV DISEASESSD FAMILIES
Clinical Cardiology
GeneticsMOLECULARCARDIOLOGY
FAMILY SCREENING
TYPICALDISEASE
SUBCLINICALDISEASE
GENE CARRIER
ESCHCM
GUIDELINES
2014
ESCHCM
GUIDELINES
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
ESC
HCM
2014
DIAGNOSTIC WORK UP IN CARDIOMYOPATHIES
SIMPLE LAB TESTS
RED FLAGS
DANON DISEASE
II:3 II:4
III:1 III:2
I:1 I:2
II:2 II:1
I:3 I:4
II:5
LIVER
ENZYMES
HCM- FABRY DISEASE
Σ
Ν
–
8
3
y
8
3
y
AF-
ΑΕΕ-
Θάνα
τος
83y
Α
ρρ
υθ
μί
ες
67
y
3
7
y
3
8
y
60
y
PA
F-
M
R-
AY
AY AY
angiokeratoma
CONCENTRIC MILD LVH
PREECXITATION
LYMPHOEDEMA
INHERITANCE GENETICS
LAB TEST PROTEINOURIA
A GALACTOSIDASE
ASYMPTOMATIC HCM PTSWITH SUBCLINICAL FORM
INHERITED CV DISEASESSD FAMILIES
Clinical Cardiology
GeneticsMOLECULARCARDIOLOGY
FAMILY SCREENING
TYPICALDISEASE
SUBCLINICALDISEASE
GENE CARRIER
SUBCLINICAL FORM OF HCM DUE TO EVOLUTION
Mutation:
Arg286Cys
Q waves
SUBCLINICAL FORM OF HCM DUE TO PENETRATION
athletic screeningpre surgery evaluation , family screening
• ATHLETE FOOTBALL• Age 16 y old
• asymptomatic
• o/e = unremarkable
• Medical history (-)
• Family history (-)
Contrast echo
MRI: no fibrosis
LVEDD:50
LVWmax:9-10
Cor Angio : normal
Abn ECG
Abn ECGCHD –48y
CHD 78y
IHD (+)
SD (-)
Athlete with abnormal ECGTHE 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 (?)
SUSPECTEDHCM
MAJOR RISK FACTORS
• LVH .30 OR Z SCORE >6
• UNEXPLAINED SYNCOPE
• NSVT
• FHSD
HCM
Abn EC
Abn ECG
CHD –48y
CHD
78y
IHD (+)
SD (-)
GENETICS
ASYMPTOMATIC HCM NORMAL GENE CARRIERS
INHERITED CV DISEASESSD FAMILIES
Clinical Cardiology
GeneticsMOLECULARCARDIOLOGY
FAMILY SCREENING
TYPICALDISEASE
SUBCLINICALDISEASE
GENE CARRIER
Normal Gene carriers
► Normal ECHO
► Normal ECG
► Athletic activity ????? u
LOW RISK
USA - EU
Close f/u
TAKE HOME MESSAGEHCM ASYMPTOMATIC PTS
► DIAGNOSIS : MULTIFACTORIAL
► GENETIC TESTING IS RECOMMENDED
► 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
HCM
ESC
2014
F/U every year
Καθ. Δ Τουσουλης