ROLE OF IMAGINGEvaluation of cardiomyopathies (hypertrophic-dilated)

2017

Division of Inherited Cardiac DiseasesHeart Center for the Young and Athletes

A’ Dpt. of Cardiology – University of Athens

• Young man that plays football

• Age: 17 years old

• Asymptomatic

• o/e = Normal

• Personal history (-)

• Family history (-)

HCM

ESCHCM

GUIDELINES

2014

MRI IN HCM

• GUIDELINES 2014

CMR – how to use information

Fibrosis in Hypertrophic Cardiomyopathy– does it have prognostic implications?

In 2/3 of HCM pts there is myocardial fibrosis

LA >45mm

ESC

GUIDELINES

IN HCM 2014

HYPERTROPHIC CARDIOMYOPATHY

INTERVENTION IN SYMPTOMATIC CASES

HOCM

DDDR

ABLATION

MYECTOMY

HCM

SYMPTOMSLVOT gr<50 mmHg

EXERCISE

ECHO

HCM

2014

PROVOKED LVOT gradient

70% HCM pts

ECHO-

DOPPLER

The echocardiographer challenge

First branch Second branch

LVOTgradientbefore and after the procedure

F/U

MRBEFORE AND AFTER SEPTAL ABLATION

3 D TOEMV STRUCTURAL ABNORMALITIES

TOE

ESCHCM

GUIDELINES

2014

GUIDING THE MYECTOMY

The Diagnosis of inherited cardiac disease concerns

the Patient and the Family

HYPERTROPHIC CARDIOMYOPATHY

• Cardiology

• PediatricsGenetics

MOLECULAR

CARDIOLOGY

Family Screening

Typical

form

Subclinical

form

Gene

carrier

Follow up

every year

Relatives that

have not been

genotyped

>20 years of age

Follow up

every 3 years

SUBCLINICAL FORM OF HCM DUE TO EVOLUTION

Mutation:

Arg286Cys

Q waves

CONCEALED FORM OF HCM DUE TO SUBCLINICAL EXPRESSION

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)

LVH

LVOT gr

LA

ESC

GUIDELINES

IN HCM

2014

Holds for typical hypertrophic cardiomyopathy > 16 years of age and not

for special types of HCM - phenocopies

MRI – Fibrosis

Apical aneurysm

EF < 50%

Double mutation

Abnormal blood

pressure response

Electrophysiological

Test (EPS)

Modifiers

HCM APICAL ANEURYSMHCM- AHA 2011

MRI IN HCM

• GUIDELINES 2014

CMR IN HCM 2 STANDAR

DEVIATION TECHNIC

LGE>15-20%SIGNIFICANT

B MARON 2014

DCM

EVALUATION OF GLOBAL

BIVENTRICULAR FUNCTION

IS ESSENTIAL FOR ADEQUATE PTS EVALUATION

EF , LV VOLUME , LV MASS

DD OF LGE AT CARDIAC MRI BY LOCATION

ACUTE VS CHRONIC INJURIES

In patients with depressed ejection fraction, lack of a

substantial (five segments or more) viability response to

dobutamine stress echocardiography is invariably associated

with a lack of response to CRT

• In other words, it is unlikely that home comfort

will benefit from a brand-new electric system if

there are no walls and no ceiling left.

DCM AND SUDDEN DEATH

• Few parameters have been identified as good predictors of SCD in DCM pts

• EF

• Syncope

Keogh et al AJC 1990

Knight et al JACC 1999

Task Force on SCD/ESC 2002

Task Force on SCD- Arrhythmia/ESC 2006

fibrosis

MRI in DCMFIBROSIS AND SUDDEN DEATH

JAMA

2013

DCM Clinical Spectrum

Preclinical or Early phase

(Relative of patients with DCM or Hypokinetic Non Dilated CM)

Clinical phase

Dilated CM

(LV Dilation + Hypokinesia)

(DCMD-H)

Hypokinetic Non Dilated CM

(Hypokinesia/no Dilation)

(HNDCM or DCMND-H)

Arrhythmic CM

(Arrhythmias or conduction defect)

^

(DCMND-NH-A/CD,with

or without mut+AHA+ )

IsolatedVentricular Dilation

(Dilation/no

Hypokinesia)*^

(DCMD-NH, with or

without mut+AHA+ )

No cardiac expression

(Mutation carrierand/or AHA positive)

(no LV abn, no arrhythmia)

^(DCMND-NH-Mut+AHA+)

Progressive expression of the phenotype

*Shown by two independent imaging modalities, ^mutation carrier or not; anti-heart autoantibody (AHA) positive or negative

HYPOKINETIC NON DILATED CARDIOMYOPATHYHNDC

Hypokinetic non-dilated cardiomyopathy

► Left ventricular or biventricular systolic dysfunction

without dilatation (defined as LVEF < 45%), not explained

by abnormal loading conditions or coronary artery disease.

Note:

► Strictly decreased LVEF is mandatory in index patient with

HNDC since no combination with dilatation is mandatory for the

diagnosis.

POST MORTEM DATA

NORMAL STRUCTURALLY HEART

NORMAL CORONARY ARTERIES

SEGMENTAL OR REGIONAL FIBROSIS WITHOUT

SPECIFIC HISTOLOGICAL FINDINGS

UNEXPLAINED OR VAGUE AETIOLOGY

SUDDEN DEATH

ECG:

3 years ago

PR= 200msec

Ι

ΙΙ

ΙΙΙ

aVR

aVL

aVF

V1

V2

V3

V4

V5

V6

Ι

ΙΙ

ΙΙΙ

Male, 28 years of age

HNDC

PLN

ANGIO NORMAL

+

28y - SCD

AY

76y

Reported normal

Ca

6 brothers

alive60y

CaCa Ca

40d

= Person with indication of cardiomyopathy

= Normal person

+ = Person that was genetically tested and a mutation was identified

= SCD – Rest ECG abnormalities

85y70y

No

cardiac

reason

94y

Arrhythmia

(?)

Dyslipidemia

ΑΥ – 80y>90y 90y

+

-

- = Person that was genetically tested and a mutation was not identified

FAMILY CLINICOGENETIC APPROACH

Disease causative

genetic mutation

p.Arg25Cys

of gene PLN

(phospholabane)

Mild DCMarrhythmogenic

ACM

Concealed phase

Overt phase

Advanced disease

ARVC ALVC

AFFECTS

LV

FIRST

ALVC

PTS CLINICAL PROFILEACM / DCM OR MYOCARDITIS?

• INVERTED T WAVES IN INFERIOR/LATERAL LEADS : MINOR• S-A-ECG (+) MINOR• SD IN THE FAMILY – FATHER : MINOR• HOLTER : 600VE’ S/24 h ARRHYTHMIAS: MINOR

• Mild left ventricular dilation and/or systolic impairment• Early arrhythmogenesis

• PREDOMINANT LV INVOLVEMENT - subepicardial fibrosis

• ACM /ALVC

Sen-Chowdry et al, JACC 2008

FAMILIAL ELEMENTSCD

MYOCARDITIS

ARRHYTHMOGENESIS

= Unaffected person

= Individual with structural abnormalities – myocardial fibrosis

73y60y

ΑΕΕ

44y

SD 14y

SD 43y

SD – CAD?

35y ago 40y

+ = Mutation positive individual

+

CLINICO – GENETIC APPROACH

++

2012 2016

2012: 50 VEs/24 h 2016 : 6.000 VEs/24h

3,4

1,6 1,61,7

1,9

2,3

4,8

3,6

5,9

3,2

4,5

0,10,2

4,7

12,1

10,0

1,2

2,7

1,2

1,7

3,1

0,8

0,6

6,1

5,0

5,3

4,2

0,7

0,9

0,2

0,0 0,0

0,4

1,8

0,8

1,0

1,6

0,4

0,1

1,7

0,8

1,7

0,9

8,7

6,0

0,1 0,0 0,0

0

2

4

6

8

10

12

14

Me

rlo

-14

Gu

lati-1

3

Gu

lati-1

3

Me

rlo

-11

Gri

mm

-03

Me

rlo

-13

He

rma

n-1

2

Pa

so

tti-

08

Va

n R

ijsin

ge

n-1

2

Va

n R

ijsin

ge

n-1

4

Va

n d

er

Zw

aa

g-1

2

Wa

hb

i-1

2

Bh

akta

-11

Co

nn

uck-0

8

Co

nn

uck-0

8

Die

go

li-1

1

HFD-HTx annual rate

SD-ICD annual rate

SD-ICD/HFD-HTx ratio

Large general DCM series,

(non-genotyped)

Sarcomeric LMNA PLN

MD1

Duchenne

Becker

Titin

% per year

Isolated non ischemic LV LGE with a stria pattern

may be associated with life-threatening arrhythmias

and sudden death in the athlete.

Because of its subepicardial / midmyocardial location, LV

scar is often not detected by echocardiography.

Circ Arrhythm Electrophysiol. 2016

T1 LGE LGE

MYOCARDITISINHERITED

CARDIOMYOPATHY

EXERSICE

INDUCED

TRAUMA

GENETICS

CIRCULATION 2016

TAKE HOME MESSAGEHCM - DCM

IMAGING ESSENTIAL

► Diagnosis ( part of the spectrum)

► Mechanisms of symptoms

► Risk stratification

► Decide how treat symptoms