Tècniques d'imatge en miocardiopaties familiars.

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Noves tècniques d'imatge en patologies menys freqüents: pericarditis, miocarditis, endocarditis

Albert Teis, MDGabinet d’Imatge Cardíaca

Servei de Cardiologia

• Cardiomyopathies are defined by structural and functional abnormalities of the ventricular myocardium that are unexplained by flow limiting coronary artery disease or abnormal loading conditions

• Familiars à refers to the occurrence, in more than one family member, of either the same disorder or a phenotype that is (or could be) caused by the same genetic mutation and not to acquired cardiac or systemic diseases

Tècniques d’imatge en MCH

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Noves tècniques d'imatge en patologies menys freqüents: pericarditis, miocarditis, endocarditis

MCHIncidència

• Miocardiopatia més freqüent• Incidència 1:500 (detectada per eco)• Primera causa de mort sobtada en

joves

• 2014 ESC: HCM is defined by the presence of increased LV wall thickness that is not solely explained by abnormal loading conditions

Diagnòstic

• Adults:LVW thickness ≥15 mm in one or more LV myocardial segments (echo, RM, TC) that is not explained solely by loading conditions. (1)

First-degree relatives: ≥13 mm (1)

• Children:LVW thickness >2SD than predicted mean (1)

Septal to posterior wall ratio >1.3 (2)

Circulation 2006;113:1807-1816(1) Eur Heart J. 2014;35(39):2733-79

(2) Circulation 1973;47:225–33

MCHIncidència

• Miocardiopatia més freqüent• Incidència 1:500 (detectada per eco)• Primera causa de mort sobtada en

joves

• 2014 ESC: HCM is defined by the presence of increased LV wall thickness that is not solely explained by abnormal loading conditions

Diagnòstic

• Adults:LVW thickness ≥15 mm in one or more LV myocardial segments (echo, RM, TC) that is not explained solely by loading conditions. (1)

First-degree relatives: ≥13 mm (1)

• Children:LVW thickness >2SD than predicted mean (1)

Septal to posterior wall ratio >1.3 (2)

Circulation 2006;113:1807-1816(1) Eur Heart J. 2014;35(39):2733-79

(2) Circulation 1973;47:225–33

Circulation 1997 Jul 1;96(1):214-9.

MCH – Eco i diagnòstic

• LVH >13mm en familiars

• Sensibilitat 61% • VVP 72%

Maron M et al J Am Coll Cardiol 2009;54:220–8Moon JC at al. Heart 2004;90:645-49

50% dels casos tenen hipertròfia localitzada

Massa VE pot ser normal

Eco infra-diagnostica en 10-15%

Rickers C at al. Circulation 2005;112:855-861

La Eco no diagnostica el 6% dels casos

Familiars de HCM (56)

Controls(279) P

Criptes 70% 19% <0.001

N criptes 3 1 <0.01

Profunditat 74% 59% <0.01

JACC 2006;48(12):2518-23

N=56Familiars portadors de mutacióSense hipertròfia (LVWH <13mm)

n criptes Sensibilitat Especificitat

1 70% 88%

≥2 51% 94%

≥3 40% 99%

≥5 9% 100%

Eur Heart J – Cardiovasc Imaging 2012;13:292-297

Journal of Cardiovascular Magnetic Resonance 2015, 17:64

N=72Portadors de mutació sense LVH vs controls

LGE: 0% 10% 60% 20%

n=69

n=95

n=23 n=23

Native T1 mappingAUC 0.97

Native T1 mappingAUC 0.90

HCM

Fabry

Amiloidosi

Diagnòstic Pronòstic

Necròpsia

Fa 50a - Cath Lab

1970’s - Eco

1990’s - RM - LGE

2000’s – Test genètic

2010’s – T1 mapping

MCH - Events CV

• FE• Classe funcional• ACxFA• Tamany auricular• Patró restrictiu• Fibrosià LGE a RM

•Tissue doppler imaging and plasma BNP levels to assess the prognosis in patients with HCM. J Am Soc Echocardiogr . 2011;24:1020–5•Tissue Doppler imaging and prognosis in asymptomatic or mildly symptomatic patients with HCM. Eur Heart J Cardiovasc Imaging. 2012;33:735•2014 ESC Guidelines on diagnosis and management of HCM. Eur Heart J. 2014;35:2733–2779.•Myocardial scar visualized by CMR imaging predicts major adverse events in patients with HCM. J Am Coll Cardiol. 2010;56:875–887. •Prognostic significance of myocardial fibrosis in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2010;56:867–74.

A

C

B

D

♂, 42-55a, LVH 19-21mm; AI 42-44mmNo LVOTO, sincope / TV / Mort sobtada

Adabag A t al. JACC 2008; 51(14): 1369-74

N=177Arítmies en Holter 24h95% pacients assimptomàtics

O’Hanlon et al. JACC 2010;56(11):867–74 Bruder et al. JACC 2010;56(11):875–87

All cause mortality

Cardiac mortality

SCD

Bruder et al. JACC 2010;56(11):875–87

Ismail TF, et al. Heart 2014;100:1851–1858

Cardiovascular Mortality

MCH - SCD

• Edat (anys)• Max LV thickness (mm) Eco• LA size (mm) M-Mode or 2D echo in parasternal long axis • Max LVOT gradient (mmHg)• Family History of SCD• Non-sustained VT• Unexplained syncope• Hypotension in Treadmill exercise test

2014 ESC Guidelines on diagnosis and management of HCM. Eur Heart J. 2014;35:2733–2779.http://www.doc2do.com/hcm/webHCM.html

O’Mahony C et al. European Heart Journal 2014:35:2010-2020

O’Mahony C et al. European Heart Journal 2014:35:2010-2020

Vriesendorp et al. Circ Arrhythm Electrophysiol 2015;8:829

AUC

2003 ACC / ESC 0.55

2011 ACC 0.6

2014 ESC 0.69

Ismail TF, et al. Heart 2014;100:1851–1858

Importància de la FE en la valoració del risc de mort sobtada

Briasoulis et al. Heart 2015;101:1406-11N = 3067 pacients

Briasoulis et al. Heart 2015;101:1406-11

All cause mortality

SCD – Aborted SCD

Estudi de RM Cardiovascular amb Realç Tardà

HCM - Events CV

• FE• Classe funcional• ACxFA• Tamany auricular• Patró restrictiu• Fibrosià LGE a RM

•Tissue doppler imaging and plasma BNP levels to assess the prognosis in patients with HCM. J Am Soc Echocardiogr . 2011;24:1020–5•Tissue Doppler imaging and prognosis in asymptomatic or mildly symptomatic patients with HCM. Eur Heart J Cardiovasc Imaging. 2012;33:735•2014 ESC Guidelines on diagnosis and management of HCM. Eur Heart J. 2014;35:2733–2779.•Myocardial scar visualized by CMR imaging predicts major adverse events in patients with HCM. J Am Coll Cardiol. 2010;56:875–887. •Prognostic significance of myocardial fibrosis in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2010;56:867–74.

LGE – pronòstic HCMLimitacions

• Centres de referència (selecció de malalts)• Molt pocs events• Usem LGE: És una variable correcta??...

– Potser tenim altres millors marcadors de fibrosi. – Molta viariabilitat en el mètode d’anàlisi LGE: manual, FWHM, SD…. – Dificultat en trobar àrees de miocardi sense fibrosi per comparar

• Cal buscar altres mètodes? T1 mapping / GLS

• 48 HCM patients• Follow-up 42 ± 12 months• The primary endpoint composite

of SCD + VF or SVT + HF

Saito et al. European Heart Journal – Cardiovascular Imaging 2012;13:617–623

Hartlage G et al. Int J Cardiovasc Imaging 2015;31:557-565

N= 79 malalts HCMSeguiment: 22mesos (9-30 mesos)

Hartlage G et al. Int J Cardiovasc Imaging 2015;31:557-565

EndPoint: heart failure hospitalization, sustained ventricular arrhythmia, and all-cause death

Dass et al. Circ Cardiovasc Imaging. 2012;5:726-733

Circulation. 2012;126:1206-1216

Flett AS et al.Circulation. 2010;122:138-144

Tècniques d’imatge en DCM

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Noves tècniques d'imatge en patologies menys freqüents: pericarditis, miocarditis, endocarditis

Gulati A et al. JAMA. 2013;309(9):896-908

N=472Seguiment 8 anysLGE a MRI

HR 2.43 [95% CI, 1.50-3.92]; P<0.001

HR 5.24 [95%CI, 3.15-8.72]; P<0.001

Gulati A et al. JAMA. 2013;309(9):896-908

26% de reclassificació si haguessim usat el LGE com a factor pronòstic

Kuruvilla S et al. Circ Cardiovasc Imaging. 2014;7:250-258

9 estudis1488 malalts i seguiment 30 mesos

Kuruvilla S et al. Circ Cardiovasc Imaging. 2014;7:250-258

All-causemortality

HF

SCD

Indicacions de DAI en MCP dilatada

Predictors de MS en NIDCM

OR

EEF positiu 2.49

FEVI 2.87

TVNS 2.92

Alternança ona T 4.66

Realç tardà en RM 5.32

Fragmentació QRS 6.73

Priori SG. ESC Guidelines. Eur Heart J.2015 Nov 1;36(41):2793-867Goldberger et al. JACC 2014;63:1879-1889Kuruvilla S et al. Circ Cardiovasc Imaging 2014;7:250-258

210 pacients DCMSeguiment 5.3 anys

Mort Cardíaca + trasplantament + SCD

Buss S et al. European Heart Journal – Cardiovascular Imaging 2015;16:307–315

Tècniques d’imatge en DAVD

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Noves tècniques d'imatge en patologies menys freqüents: pericarditis, miocarditis, endocarditis

Major Criteria

Minor Criteria

Marcus FI et al. Circulation 2010;121:1533-1541

Vermes E et al. JACC Imaging 2011;4:282-7

ARVC

Estratificació de risc i indicacions de DAI

• Factors de risc de MS:• Síncope inexplicat• TVNS• Història familiar de MS• Afectació extensa de VD o

afectació de VI (per RM)• Inducibilitat de TV en EEF

*

*

2015 ESC Guidelines management patients with VT and prevention of SCD. Eur Heart J 2015;36:2793-2867Lemola et al. Heart 2005;91:1167–1172

Conclusions• Per millorar el pronòstic cal millorar el diagnòstic.• El correcte diagnòstic de les mateixes farà canviar el

pronòstic conegut fins ara.• Existeix una desproporció entre les dades de

pronòstic clàssiques i tot el que podem valorar actualmentà Falta temps.

• Cal ser crític amb les guies: HCM i DCM• Prou evidència per a valorar la presència de captació

tardana de contrast com a factor pronòstic en HCM i dilatada.

• T1 mapping / ECV / Strain longitudinal global

Gràcies

Què és una miocardiopatia?• 1980, the World Health Organization (WHO): "heart muscle diseases of unknown cause”

• 1995 expanded the classification to include all diseases affecting heart muscle and to take into consideration etiology as well as the dominant pathophysiology. In this 1995 classification, the cardiomyopathies were defined as "diseases of the myocardium associated with cardiac dysfunction." They were classified according to anatomy and physiology into the following types, each of which has multiple different causes:

– Dilated cardiomyopathy (DCM)– Hypertrophic cardiomyopathy (HCM)– Restrictive cardiomyopathy (RCM)– Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D)– Unclassified cardiomyopathies

Etiologies include genetic, inflammatory, metabolic, toxic, and other diseases.The 1995 WHO/ISFC classification system included ischemic, valvular, and hypertensive disease among the causes of cardiomyopathy.

Què és una miocardiopatia?

• 2006 AHA: "Cardiomyopathies are a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually (but not invariably) exhibit inappropriate ventricular hypertrophy or dilation and are due to a variety of causes that frequently are genetic. Cardiomyopathies either are confined to the heart or are a part of generalized systemic disorders, often leading to cardiovascular death or progressive heart failure-related disability"

• Primary cardiomyopathies (predominantly involving the heart)• Secondary cardiomyopathies (accompanied by other organ system involvement)

Mordi I at al. Eur Heart J Cardiovasc Imaging. 2015 Sep 10