Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia - Task Force Criteria for Diagnosis

McKenna et al. British Heart J. 1994;71:215-8. (Original criteria)
Marcus, FI. et al. Circulation 2010;121:1533-41. (Revised criteria - listed below (Article is available for free)

Diagnostic levels: (Definite, Borderline and Possible)
Definite diagnosis - 2 majors or 1 major & 2 minor criteria or 4 minor criteria from diff. categories.
Borderline diagnosis - 1 major & 1 minor, or 3 minor criteria from different categories
Possible diagnosis - 1 major or 2 minor criteria from different categories.

The diagnostic criteria fall under 6 different categories:
I) Dysfunction or Structural alterations
II) Tissue characterization
III) Repolarization abnormalities
IV) Depolarization abnormalities
V) Arrhythmias
VI) Family history

I) Dysfunction or Structural alterations

Major - 
By 2D echo:
(i) Regional RV akinesia, dyskinesia or aneurysm & one of the following three
     (a) PLAx (end diastole) RVOT ≥ 32 mm (≥19 mm/m2)
     (b) PSAx (end diastole) RVOT ≥ 36 mm (≥ 21 mm/m2)
     (c) ≤ FAC 33%
By MRI:
(i) Regional RV akinesia or dyskinesia or dyssynchronious RV contraction & one of the following two.
    (a) RVEDV ≥ 110 ml/m2 for male,  ≥ 100 ml/m2 for female
    (b) ≤ RVEF 40%
By RV angiography:
(i) Regional RV akinesia, dyskinesia or aneurysm.
Minor -
By 2D echo:
(i) Regional RV akinesia or dyskinesia & one of the following three
     (a) PLAx (end diastole) RVOT 29 - 32 mm (16 - 19 mm/m2)
     (b) PSAx (edn diastole) RVOT 32 - 36 mm (18 - 21 mm/m2)
     (c) ≤ FAC 33 - 40%
By MRI:
(i) Regional RV akinesia or dyskinesia or dyssynchronious RV contraction & one of the following two.
    (a) RVEDV 100 - 110 ml/m2 for male,  90 - 100 ml/m2 for female
    (b) RVEF 40 - 45%

II) Tissue characterization (Fibrofatty replacement of myocardium)

Major -
(i) Biopsy - Residual myocytes < 60% by morphometric analysis (or < 50% if estimated) with fibrous replacement of RV free wall myocardium (with or without fatty replacement)
<50 estimated="" fatty="" if="" myocardium.="" of="" or="" p="" replacement="" with="" without="">
<50 estimated="" fatty="" if="" myocardium.="" of="" or="" p="" replacement="" with="" without="">Minor - 
(i) Biospy - Residual myocytes 60-75% by morphometric analysis or 50-65% if estimated) with fibrous replacement of RV free wall myocardium (with or without fatty replacement).

<50 estimated="" fatty="" if="" myocardium.="" of="" or="" p="" replacement="" with="" without=""> III) Repolarization abnormalities:

<50 estimated="" fatty="" if="" myocardium.="" of="" or="" p="" replacement="" with="" without=""> Major - (i) T wave inversion in V1-V3 or beyond (in >14 yrs of age, in the absence of RBBB and QRS ≥120 ms).
Minor -
(i) T wave inversion in V1-V2 (in >14 yrs of age, absence of RBBB) or in V4, V5 or V6.
(ii) T wave inversion in V1 - V4 with RBBB.

<50 estimated="" fatty="" if="" myocardium.="" of="" or="" p="" replacement="" with="" without=""> IV) Depolarization abnormalities:

<50 estimated="" fatty="" if="" myocardium.="" of="" or="" p="" replacement="" with="" without=""> Major -
(i) Epsilon wave in V1 - V3 (Reproducible, low-amplitude signals between QRS and T wave)
Minor -
(i) Late potential in Signal-averaged ECG (in ≥ 1 of 3 parameters in the absence of a QRS ≥ 110 ms in standard ECG)
(ii) Filtered QRS duration (fQRS) ≥ 114 ms.
(iii) Duration of terminal QRS (< 40 µV) ≥ 38 ms.
(iv) Root-Mean-Square voltage of terminal 40 ms ≤ 20 µV
(v) Terminal activation duration of QRS ≥ 55 ms measured from nadir of the S wave to the end of the QRS, including R' in V1, V2 or V3 in the absence of RBBB.

<50 estimated="" fatty="" if="" myocardium.="" of="" or="" p="" replacement="" with="" without=""> V) Arrhythmias:

<50 estimated="" fatty="" if="" myocardium.="" of="" or="" p="" replacement="" with="" without=""> Major - (i) V-Tach with LBBB morphology with superior axis (negative in II, III and aVF & positive in aVL)
Minor -
(i) V-Tach with RVOT morphology i.e. LBBB morphology with inferior axis (positive in II, III and aVF & negative in aVL) or unknown axis.
(ii) > 500 PVCs in 24 hrs. (Holter)

<50 estimated="" fatty="" if="" myocardium.="" of="" or="" p="" replacement="" with="" without=""> VI) Family history:

<50 estimated="" fatty="" if="" myocardium.="" of="" or="" p="" replacement="" with="" without=""> Major - (i) First-degree relative with ARVC/D confirmed by current criteria
(ii) First-degree relative with ARVC/D confirmed by surgery or autopsy
(iii) Pathogenic mutation (associated or probably associated with ARVC/D) found in the patient under evaluation (Technically, this is not "family history")
Minor -
(i) First-degree relative with history of ARVC/D that cannot be confirmed with current criteria
(ii) First-degree relative with sudden death < 35 years of age in whom ARVC/D was suspected as cause
(iii) Second-degree relative with confirmed ARVC/D with current criteria or by pathology

✪Treatment of ARVC/D - International Consensus Statement. Circulation 2015;132:441-53. (Article available for free).

HCM - Post-extrasystolic potentiation

Post-extrasystolic potentiation of LV-Ao gradient

From Manual of Cardiovascular Medicine Ed. Brian P. Griffin. Fourth ed. p.166

Cardiomyopathy & Myocarditis: Initial Work-up (Dr. M.M.)

Link to download PDF.

HCM vs. Athelete's Heart

From an editorial by B. Maron. Heart 2005;91:1380-82
(Click on the image to enlarge it)

Dilated cardiomyopathy - Etiology

Below 1 year of age:

1. Myocarditis

2. EFE - Emery Dreyfuss Muscular Dystrophy

3. Barth syndrome

4. Carnitine deficiency

5. Selenium deficiency

6. ALCAPA

7. Kawasaki disease

8. Critical AS

9. SVT

10. Vein of Galen malformation (AVMs)

11. Calcium deficiency

12. Hypoglycemia

13. LV non-compaction

14. Mitochondrial CMP

15. Nemaline CMP

16. Minicore-Multicore Myopathy

17. Myotubular myopathy.

Between 1 - 10 years age:

1. Familial DCM

2. Barth syndrome

3. Myocarditis

4. ARVD

5. EFE

6. Carnitine def.

7. Selenium def.

8. ALCAPA

9. Kawasaki

10. SVT

11. Toxic (Adriamycin)

12. B-ketothiolase def.

13. Ipecac toxicity

14. SLE, PAN, HUS

15. Mitochondrial CMP

16. Nemaline myopathy

17. Minicore-Multicore myopathy

18. Myotubular myopathy

Above 10 years of age:

1. Familial DCM

2. X-linked DCM

3. Myocarditis

4. SVT

5. CHD (Ebstein's, etc.)

6. Postop. CHD

7. Mitochondrial CMP

8. Chagas Disease

9. ARVD

10. Eosinophilic CMP (EFE)

11. Adriamycin toxicity

12. Pheochromocytoma

13. DMD/Beckers MD

14. Emery-Dreyfuss Muscular Dystrophy (EDMD)

15. Hemochromatosis

16. Limb girdle muscular dystrophy

17. Myotonic dystrophy

18. Peripartum CMP

19. Alcoholic CMP

Another classification of causes - in general: Mitochondrial abnormalities (Frederich's ataxia, Kearn-Sayre syndrome), Fatty acid metabolism defects (Carnitine def, LCAD def, Glutaric aciduria type II), Myocyte protein abnormalities (DMD - Dystrophin, Sphingolipidoses, Fabry's disease, GM1 Gangliosidosis), Glycogen storage disease (Type IIa - Pompe's, Debranching enzyme def, III, IXb), Toxins (Alcohol, Cobalt, Anthracyclines, Anthrcyclines with adjuvants such as cyclophasphamide, etc.), Viral infections, Bacterial infections (Rheumatic fever, Diphtheria), Parastitic infestations (Trypanosomiasis, Chaga's disease), Nutritional (Calcium, Copper, Iron, Selenium, Thiamine) and arrhythmias (SVT).

Dilated Cardiomyopathy - workup

Get a print-out

Family History

CXR, EKG, Echo (Including relatives - as needed)

Urine for UA, Aminoacids and Organic acids (including 3-methyl glutaconic acid)

Blood:

CBC, Diff

Electrolytes (incl. Gluc, Ca, Mg)

LFT

Copper, Selenium

Lactate, Pyruvate (simultaneous)

Cholestrol

TFT

Plasma aminoacids

CPK, Troponin

Carnitine & Acyl carnitine profile

ESR

Pro-BNP or BNP

Viral PCR (Adeno, Cox sackie A-B, Influenza A-B, Echo, EBV, Herpes, Rhino, Parvo)

When appropriate...:

Blood for Cytogenetics

Skeletal muscle biopsy - Histology, EM, Mitochondrial respiratory chain analysis, Acyl CoA DH analysis

Endomyocardial biopsy - Histology, EM, PCR for viral genome, Mitochondrial respiratory chain analysis

Blood for cell lines

EKG: Holter recording from a 8 month old baby with cardiomyopathy

Panel 1 - Baseline for comparison.
Panel 2 - What is the reason for change in QRS morphology?
Panel 3 - Based on this panel, do you want to change your opinion for Panel 2?
Panel 4 - How would you differentiate among the following options? (i) Sinus arrhythmia - sinus bradycardia with escape junctional rhythm, (ii) Accelerated junctional rhythm, (iii) Accelerated idioventricular rhythm and (iv) A 5-beat run of ventricular tachycardia.
What is the clinical significance of this finding in an apparently, asymptomatic infant with cardiomyopathy? What if the mother complaints that the baby has been "fussy" recently?

LV Non-compaction

Pignatelli RH, et al.
Circulation 2003;108:2672-8

LVNC - Diagnostic criteria (Adapted from Heart 2001;86:666-71).
All 3 criteria must be present.
1) Multiple deep echocardiographic trabeculations
2)Trabeculations should communicate with ventricular cavity, shown by color Doppler and recesses demonstrated in apical & middle portions of the ventricle
3) Non-compacted to compacted portions ratio >1.4

Angiography images are from Cardiology in the Young 2007;17:56-63

Also, see other posting on this subject.