Left ventricular Non Compaction Cardiomyopathy in ACHD

Dr CHARALAMPOS KAVVOURAS MD, Msc

ACHD Consultant Liverpool Heart and Chest Hospital, UK.

Multimodality Imaging in ACHD and PH with implementation of ISACHD protocol RBHT September 2019

Disclosures

• No conflict of interest regarding this talk

Definition

• Noncompaction cardiomyopathy (NCCM) is a cardiomyopathy with excessive trabeculations of the LV.

• Initially referred to as “spongy” heart

• Spongiform cardiomyopathy • Myocardial sinusoids • Embryonic myocardium • Ventricular hypertrabeculation • Anomalous ventricular myocardial pattern • Ventricular dysplasia • Honey-combed ventricle • Isolated ventricular abnormal trabeculation

Nomenclature for LVNC

Classification of Cardiomyopathies

MaronB J et al. Circulation 2006;113:1807

Classification of Cardiomyopathies

Elliott P et al. EurHeart J 2008;29:270

Historical background

•Spongy appearance of myocardium 1926 by Grant •Persistent isolated myocardial sinusoids 1967 by Bender •Echocardiography 1984 by Engberding •Detailed description 1986 by Jenni •Term non-compaction 1990 by Chin

First time recognized/reported

Jenni R. Cardiovasc Intervent Radiol 1986;9:127

Persisting Sinusoids •Primitive vessels (occurring earlier than coronary arteries) •Remnants in the normal heart: venae cordis minimae •When persisting: associated with pulmonary atresia, congenital pulmonary stenosis, congenital aortic stenosis •When persisting: endothelium-lined and wide communications between ventricles and coronary arteries

Krishnan U et al. Circulation 2008;117:e315

Arrows: arteriosinusoidal fistulae filling with contrast agent on injection, delineating the endocardial border

Morphology of Non-compaction

Normal

Non-compaction

Left: half of the heart of a 21-year-old man. There are both numerous trabeculations and deep recesses. fibroelastosis of the LV. Right: transmural, histologic section There are both an epicardial (compacted) layer (arrows) and an endocardial (noncompacted) layer. The necrosis within the trabeculations (asterisks) .

Diagnosis of Non-compaction

Diagnostic Criteria for Non-compaction

• Absence of coexisting cardiac abnormalities by definition

• Typical two-layered structure of the myocardium with a thin, compacted outer (epicardial) layer and a much thicker, non-compacted inner (endocardial) layer consisting of trabecular meshwork with deep endocardial spaces

• Maximal end systolic ratio of non-compacted to compacted layer >2

• Segmental location with non-compacted myocardium predominantly (80%) found in the apical and mid-ventricular areas of the inferior and lateral wall

• Color Doppler: deeply perfused intertrabecular recesses; intertrabecular spaces do communicate with the ventricular lumen, but not the coronary circulation

Jenni et al. EurHeart J 2011;32:1446-1456

Non-compaction Normal

Contrast for Diagnosis of Non-compaction

• Contrast does not facilitate the diagnosis of non-compaction

• Contrast improves the identification of the compacted myocardium

• Contrast improves the measurement of LV end diastolic and end systolic volume

• Contrast improves the measurement of LV ejection fraction

Diagnostic criteria (MRI)

HCM & Non-compaction

Occurrence of Non-compaction

• Isolated

• Congenital heart disease:

» Ebstein anomaly » Pulmonary atresia » Aortic stenosis » Ventricular septal defect

• Genetic syndromes: • Noonan syndrome(cardiac anomalies: PS, ASD, VSD, HOCM) • Barth syndrome(cardiac anomalies: ventricular arrhythmias, DCM)

• Neuromuscular disorders

• Duchenne • Becker

LVNC in ACHD

• A total of 110 (1.38%) patients with an echocardiographic diagnosis of VH were identified out of 7995 .

• The most common underlying CHD diagnosis

• Aortic coarctation (n=25, 23%),

• Bicuspid aortic valve (n=23, 20.9%),

• Tetralogy of Fallot (n=20, 18.2%)

• Ebstein anomaly (n=18, 16.3%).

• The prevalence of VH was highest in patients with

• Ebstein anomaly (11.2% )

• aortic coarctation (3.8%)

• Tetralogy of Fallot (2.7%).

• Bicuspid aortic valve (2.4%),

• RBHT DATA BASE MAY 2018

LVNC in ACHD

The LV apex (n=79, 71.8%), Lateral Wall (n=53, 48.2%) Inferior Wall (n=17, 15.5%) 37 patients had more than 1 segment of the LV were involved (36%). RV involvement was observed in 27 (24.5%) patients, more frequently in ToF: 48.0% Kavvouras Et.al under review by JACC

Baseline demographic and clinical characteristics of patients with congenital heart disease and ventricular hypertrabeculation

Parameters

Patients (n) 110

Males 61%

Age, years

Diagnosis

TOF

BAV

Aortic coarctation

Ebstein anomaly

Clinical events

Death

Hospitalization for heart failure

Arrhythmias

SVT

New onset Afib

NSVT

VT

ICD implantation

Pulmonary embolism

33.5 ± 17.9

20(18.2%)

23(20.9%)

25(23%)

18(16.3%)

14 (12%)

50 (45%)

83 (75%)

55

5

20

8

22(20%)

6 (5%)

Kavvouras Et.al under review by JACC 07/2019

Clinical Course of Non-compaction

GreutmannM et al. Am J Cardiol2012;109:276

Kavvouras Et.al under review by JACC

Kavvouras Et.al under review by JACC

Survival in CHD patients with VH according to LVEF and LV strain

Kavvouras Et.al under review by JACC

Clinical outcome of LVNC

Therapy of Patients with Non-compaction

• Similar to patients with dilated cardiomyopathy

• ICD: OMT, NYHA II-III, LV-EF <=35%

• Appropriate shocks in ≈1/3 of patients • Medical therapy for heart failure

– Anticoagulation when LV-EF <=40%

• CRT: OMT, QRS >=130ms, LV-EF <=35%

Genetics & Non-compaction

• Beta-myosin heavy chain

• Alpha cardiac actin

• Cardiac myosin binding proteinC

• Cardiac troponinT

• Cardiac troponinI

• Alpha tropomyosin

• Lamin A/C

Klaassen S et al. Circulation 2008;117:2893

Summary

• Phenotype: • -Thickened myocardial wall • -Thin compacted myocardial layer • -Thick non-compacted myocardial layer • -Recesses perfused from ventricular lumen • -Apical, mid-lateral, mid-inferior segments • -Isolated or combined(congenital heart defects, genetic syndromes) • Genotype: • -Different mutations(sarcomere proteins, others) • -Familial occurrence(autosomal dominant, X-linked) • Clinic: • -Wide clinical spectrum • -Heart failure, ventricular arrhythmias, thrombo-embolic events • Treatment: • -Similar to dilated cardiomyopathy • -Exception: anticoagulation

Prevalence, frequent overestimation/underestimation. Definitive echocardiographic and CMR criteria for diagnosis. Prevalence of RV involvement and diagnostic criteria. Whether prognosis can be improved by early diagnosis-treatment. .

Unresolved issues

Thank you