lvnc diagnosis and implications for a pediatric cardiologist

1. Dr ADHI ARYA
FELLOW PEDIATRIC CARDIOLOGY
LEFT VENTRICULAR NON COMPACTION

2.  WHAT LVNC IS
 HISTORY
 PREVELANCE
 ETIOLOGY
 DIAGNOSIS
 DIFFERENTIAL DAIGNOSIS
 MANAGEMENT
 SUMMARY

3. WHAT IS LVNC
 Debate-Whether distinct cardiomyopathy or a
morphologic trait shared by different types of
cardiomyopathies or a normal morphological
trait
 AHA- genetic cardiomyopathy
 ESC/WHO classifies LVNC as an unclassified
cardiomyopathy

4. CARDIOMYOPATHY
 1980 WHO defined cardiomyopathies as
"heart muscle diseases of unknown cause" to
distinguish cardiomyopathy from cardiac
dysfunction due to known cardiovascular
entities such as hypertension, ischemic heart
disease, or valvular disease

5.  1995 WHO/ISFC expanded the classification -to take into
consideration etiology as well as the dominant
pathophysiology.
 Cardiomyopathies were defined as "diseases of the
myocardium associated with cardiac dysfunction."
classified according to anatomy and physiology into the
following types,
●Dilated cardiomyopathy (DCM)
●Hypertrophic cardiomyopathy (HCM)
●Restrictive cardiomyopathy (RCM)
●Arrhythmogenic right
ventricular cardiomyopathy/dysplasia (ARVC/D)
●Unclassified cardiomyopathies

6.  The AHA(2006) and ESC (2008) classification
systems differ from the
earlier WHO/ISFC classification in
 emphasizing the distinction between familial
and nonfamilial/non-genetic causes of
cardiomyopathy
 excluding heart disease secondary to coronary
artery disease, valvular, or congenital heart
disorders.
 The ESC classification differs from the AHA
classification in also excluding ion
channelopathies.

7.  The MOGE(S) classification for a phenotype-
genotype-based nomenclature of
cardiomyopathy was endorsed by the World
Heart Federation -2013
 was inspired by the TNM staging of malignant
tumors and does not include ion
channelopathies.
 The clinical applicability of this system has not
yet been defined
 Five attributes:

8.  ● MORPHOFUNCTIONAL (M) notation indicates a descriptive
phenotypic diagnosis (eg, MD = dilated cardiomyopathy).
 ●THE ORGAN INVOLVEMENT (O) notation indicates if
heart and/or extracardiac involvement is present (eg, OH+K = heart
and kidney involvement).
 ●The GENETIC OR FAMILIAL INHERITANCE (G) notation
indicates the nature of genetic transmission (eg, GAD = autosomal
dominant).
 ●The ETIOLOGICAL ANNOTATION (E) provides description of the
specific cause (eg, the specific gene and mutation as in EG-
MYH7[p.Arg403Glu]).
 ●The addition of a FUNCTIONAL STATUS (S) term is considered
optional (eg, SC-II = stage C disease in New York Heart Association
functional class II).

9. Changes in classification

11. HISTORY
 Spongy appearance of the myocardium
first described by Grant in 1926
 Engberding and Bender made the first
clinical recognition with two-dimensional
(2D) echocardiography in 1984

12. PREVALANCE
 true prevalence –unclear
 9% of all pediatric cardiomyopathies
 3 rd most common cardiomyopathy (
DCM/HCM)
 reported in 0.014–0.05% of adults( prevalence
in patients undergoing echocardiography)
 Among CHF patients 3-4%.
 Probably an underestimate due to increased
awareness these days and better
echocardiograhic and MRI diagnosis

13. ETIOLOGY
LVNC can originate
during embryonic development
or
acquired later in life.

14. NONEMBRYOGENIC
HYPOTHESIS.
hypothesis that the pathogenetic mechanisms
leading to noncompaction or increased
trabeculation may occur in adult life, leading to
acquired LVNC.
 particular phenotypic characteristics ofLVNC
are identified in cases including pregnancy,
sickle cell anemia, and athletes.

15. EMBRYOGENIC
HYPOTHESIS.
 LVNC is thought to be caused by an arrest in
the normal process of myocardial compaction.

16. Developmental considerations-
development of the myocardial architecture
which passes through four distinct steps
(i) early heart tube
(ii) emergence of trabeculations
(iii) trabecular remodeling
(iv) development of the multilayered spiral
system
Emergence of trabeculations and trabecular
remodeling are the key steps to understand
LVNC

17. Trabecular remodeling-
 remodelling starts after completion of
ventricular septation at 8 weeks of gestation
in human.
 Increase in ventricular volumes results in
compression of the trabeculations with an
increase in the thickness of the compacted
myocardium.
 compaction process coincides with the
invasion of epicardial coronary arteries and
vascularization of the myocardium

18. Process progresses from-
 epicardium to the endocardium
 base to the apex
 septum to the free wall in the LV
 more in LV than right ventricle
time of arrest of normal embryonic myocardial maturation
determines the severity and extension of LVNC
18

19. MOLECULAR MECHANISM

20. GENETICS

21.  Sporadic and familial form.
 AD more common than X-linked
inheritance
 Familial recurrence between 18 and 50%
 Mutations in the G4.5 gene on Xq28
resulting Barth syndrome with DCM and
LVNC in a pediatric population.

22. DIAGNOSIS
 ECHO( Chin/Jenni/stollberger)
 CONTRAST ECHO
 DE-MRI
 ADVANTAGES AND LIMITATIONS OF EACH
 PITFALLS THAT CAN LEAD TO
MISDIAGNOSIS OF LVNC

23. Non-compaction
(California criteria)
23

24. 24

25. Zurich criteria25

26. Vienna criteria
26

30.  In these cases, contrast-enhanced
echocardiography can better show
trabeculations because contrast medium
diffuses into the intertrabecular recesses that
communicate with the ventricular cavity

31. LIMITATIONS OF ECHO
 operator dependent
 the apex, most frequently affected, can be difficult
to visualize during echocardiography
 a double-layered myocardium or trabeculations
may not be clearly visualized at echocardiography
 Misdiagnosis as another type of cardiomyopathy,
such as hypertrophic cardiomyopathy
 short-axis images may not be perpendicular to the
LV long axis and can produce the morphologic
appearance of prominent trabeculations that
mimic LVNC

32. Preferred views / end-systole vs
end diastole
 Papillary muscles are easier to exclude in
short axis
which could look as trabeculations in 4c view
End systole because differentiation between
compacted and non compacted layers is
difficult in end diastole

33.  HCM shares morphological features with LVNC, but
prognosis and treatment strategies differ between
LVNC and HCM
 Homogeneously reduced LV function in LVNC, as
opposed to preserved apical and more reduced basal
function in HCM which may represent specific
differences in embryogenesis and pathogenesis in the
two cardiomyopathies.
 LVNC patients had increased number of
trabeculations, thinner MWT, and lower EF compared
to HCM patients and assessment of these parameters
may help to characterize LVNC in patients with
overlapping phenotypes.

34. CARDIAC MRI

35. ECHO DIAGNOSIS

37. DE MRI
In LVNC,
 areas of trabecular and subendocardial delayed contrast
enhancement can be appreciated and are related to the
presence of subendocardial and trabecular fibrosis and
fibroelastosis

38. ADVANTAGES OF MRI
 3D approach-allows imaging of the entire volume of the
heart with lower investigator dependency
 Better delineation of trabeculations and affords more
accurate and reliable evaluation of the extent of
noncompacted myocardium than does 2D
echocardiography
 cardiac MRI has potential in the detection of segmental
noncompaction in any area of the LV wall.

39.  The right ventricle is better visualized with cardiac MRI
than with echocardiography, and concomitant right
ventricular noncompaction may be better identified.
 Delayed enhancement imaging can depict myocardial
fibrotic foci that represent the substrate for potentially
lethal arrhythmias
 Delayed enhancement also can be useful in the
differential diagnosis from apical thrombus and
endomyocardial fibrosis

40. LIMITATIONS OF MRI
 Higher cost,
 long acquisition times, and limited availability
 patient with pace makers

41. Approach to trabeculations
detected on 2D ECHO

42. D/D
 DCM
 HCM
 MYOCARDITIS

43. Clinical features
3 main manifestations
 Congestive heart failure
 Arrythmias
 Thromboembolism
Findings vary among patients, ranging from
asymptomatic left ventricular dysfunction to
severe, disabling congestive heart failure.

44.  Both systolic and diastolic ventricular
dysfunction have been described.
 Restrictive hemodynamics by cardiac
catheterization,
 Initial presentation as a restrictive
cardiomyopathy,

45. Heart Failure
Diastolic Systolic
 Pathophysiology
 Abnormal relaxation
 Decreased
compliance due to
volume of
trabeculations
 Subendocardial
hypoperfusion
  chronic
microvascular
ischemia
 No significant
epicardial coronary
disease

46. Differences in pediatric
population
Ventricular arrythmias
Sudden death
Thromboemblic events
are rare as compared to adult population

47. Patient characteristics in different
studies

48. MANAGEMENT
 No specific treatment available
 Family members of proband should be screened using
ECHO
 Genetic testing may useful in identifying familial forms
 Anticoagulation-(INR 2-3)
1. Decreased systolic function with EF below 40%
2. History of thromboembolism
3. Atrial fibrillation
49

49. ICD/biventricular pacing-
 no robust data available for guideline
 indication for device therapy as per
current guideline.

50. Summary

51. THANK YOU