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