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LV Noncompaction

LV Noncompaction. Echocardiography Conference Connie Tsao Jan 21, 2009. Terms. Left ventricular noncompaction in association with congenital abnormalities Isolated left ventricular noncompaction Left ventricular hypertrabeculation Persistent myocardial sinusoids Spongy myocardium.

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LV Noncompaction

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  1. LV Noncompaction Echocardiography Conference Connie Tsao Jan 21, 2009

  2. Terms • Left ventricular noncompaction in association with congenital abnormalities • Isolated left ventricular noncompaction • Left ventricular hypertrabeculation • Persistent myocardial sinusoids • Spongy myocardium

  3. Outline • Definitions • Embryology • Pathophysiology • Associations with other disease • Isolated LV noncompaction • Epidemiology • Genetics • Pathology • Clinical Features • Diagnosis • Echocardiography • Cardiovascular magnetic resonance • Prognosis • Management

  4. Definition • Congenital heart disease • Myocardial wall distortion • Prominent trabeculae • Deep intertrabecular recesses • Continuity between LV cavity and recesses • Primary cardiomyopathy in 2006 World Heath Organization classification Ritter M et al, Mayo Clin Proc 1997

  5. Early Embryology, <5 weeks Anterolateral mesoderm N-Cadherin Epithelium ↓N-Cadherin Endocardium Myocardium Cardiac Tube 3 weeks Neuregulin growth factors Trabeculations

  6. Embryology, 5-8 weeks Endocardium Vascular endothelial growth factor Angiopoietin-1 Sub-epicardial space Microvessels coronary circulation • Compaction • Base  apex • Epi-  endocardium • Intratrabecular recesses  myocardial capillaries

  7. Srivastava D, Nature 2000; and RP, Nature Rev Genetics 2002

  8. Pathogenesis of Noncompaction • Arrest of endomyocardial morphogenesis • Potential pathological processes preventing regression of sinusoids (Weiford et al, Circ 2004): • Pressure overload • Ischemia • Not proven

  9. History • First described in association with other congenital abnormalities • Obstruction of LVOT/RVOT • Pulmonary atresia with intact ventricular septum • Complex cyanotic congenital heart disease • Anomalous coronary arteries • Intertrabecular recesses communicate with ventricular cavity and coronary circulation Lauer RM et al, NEJM 1964 Dusek J et al, Arch Pathol 1975

  10. Ebstein Anomaly and Noncompaction Bagur RH, et al. Circ 2008

  11. … in association with other disease • Neuromuscular disorders • Metabolic disease • Genetic syndromes • Barth syndrome • X-linked, dilated CMP, neutropenia, skeletal myopathy, mitochondrial abnormalities, lactic acidosis • G4.5 gene in Xq28: encodes tafazzins proteins: acyltransferase functions in mitochondria, expressed in heart/muscle cells • Charcot-Marie-Tooth • Nail-patella

  12. Similar phenotypes • Dilated cardiomyopathy • HCM • Restrictive cardiomyopathy • Left-dominant arrhythmogeniccardiomyopathy • 42 patients with unexplained IL TWI, arrhythmia of LV origin, and/or LDAC or familial myocardial fibrosis • 5 patients fulfilled echocardiographic criteria for LVNC Sen-Chowdhry S et al., JACC 2008

  13. 1st Report of Isolated Noncompaction

  14. Epidemiology of Isolated LV Noncompaction • Children  Adults, elderly • 0.05% (Ritter M et al, Mayo Clin Proc 1997) • 37,555 echocardiograms  17 cases • Prominent, excessive trabeculations • 0.014% (Oechslin EN et al, JACC 2000) • 242,857 echocardiograms  34 cases • Noncompacted/compacted ≥ 2:1 • Men >> women

  15. Genetics • Sporadic or familial • Familial in 18-50% (Oechslin et al, JACC 2000, Chin et al, Circ 1990, Xing et al, Mol Genet Metab 2006) • Autosomal dominant with incomplete penetrance > X-linked or autosomal recessive • G4.5 gene of Xq28 region (Bleyl SB et al, Am J Med Genet 1997): taffazin • α-dystrobrevin gene (Ichida F et al, Circ 2001) • Links cytoskeleton of myocytes to extracellular matrix • LIM domain binding protein 3/ZASP • Sarcomere genes: β myosin heavy chain (MYH7), α cardiac actin (ACTC), cardiac troponin T (TNNT2) (Klaassen S et al., Circ 2008)

  16. Pathology Kaneda et al, Circ 2005 Ritter et al, Mayo Clin Proc 1997 Jenni R et al, Heart 2001

  17. Cross section Azan stain, fibrosis Van Giesonelastin stain Kaneda et al, Circ 2005 Ritter et al, Mayo Clin Proc 1997

  18. Clinical Features • Heart failure • Dyspnea • Chest pain • Arrhythmia • Atrial fibrillation • Ventricular tachycardia • Thromboembolism • CVA/TIA • Pulmonary embolism

  19. Heart Failure Diastolic Systolic • Restrictive hemodynamics on catheterization • Initial presentation as restrictive cardiomyopathy • Pathophysiology • Abnormal relaxation • Decreased compliance due to volume of trabeculations • No significant epicardial coronary disease • Subendocardialhypoperfusion •  chronic microvascular ischemia Ichida F et al, JACC 1999; Sen-Chowdhry et al, CurrOpin Card 2008

  20. Microvascular dysfunction Thallium CMR- increased T2 signal Hamamichi Y et al, Int J CardiovasImag 2001 Ichida F et al, JACC 1999

  21. PET Jenni R et al, JACC 2002 Jenni R et al, Heart 2001

  22. Electrophysiology • Atrialfibrillation • Ventricular tachycardia ECG: • Left or right axis deviation • PR prolongation • Left ventricular hypertrophy • LBBB, RBBB, IVCD • Repolarization abnormalities • In pediatric population: • Sinus bradycardia • WPW Duru F et al, J CardiovascElectrophysiol 2000

  23. LVH, T-wave abnormalities McCrohon, J. A. et al. Circulation 2002;106:e22-e23

  24. Thromboembolism • Stroke • TIA • Pulmonary embolus • Mesenteric infarction • Reported 21-38% • Etiology • Stasis of blood in deep recesses/trabeculations • Atrial fibrillation Chin TK et al, Circ 1990 Ritter M et al., Mayo Clin Proc 1997 Oechslin E et al, JACC 2000

  25. Clinical Manifestations • Largest comprehensive study in adults to date • Review of all echocardiograms 1/84-12/98 • 34 adults with noncompaction Oechslin et al, JACC 2000

  26. Oechslin et al, JACC 2000

  27. Weiford et al, Circ 2004

  28. Imaging for diagnosis

  29. Chow C et al, Circ 2007

  30. Diagnosis- Echocardiography I 0.92+0.07 0.59+0.05 0.20±0.04 • X/Y ≤ 0.5 • Apex at end-diastole • Subcostal • Apical 4Ch Chin TK et al, Circ 1990

  31. Diagnosis- Echocardiography II • Compacted and noncompacted layers of ventricular wall • Thickened endocardial layer • Prominent trabeculations • Deep recesses • Ratio noncompacted to compacted >2:1 • End-systole • Trabecular meshwork in apex or midventricular segments of inferior and lateral wall Jenni R et al, Heart 2001

  32. All p <0.001 vs. noncompaction group • Autopsy validation in 7 of 34 noncompaction patients • Autopsy validation in all dilated cardiomyopathy patients Jenni R et al, Heart 2001

  33. Jenni R et al, Heart 2001

  34. Jenni R et al, Heart 2001

  35. Weiford et al, Circ 2004 Ichida F et al, JACC 1999

  36. Diagnosis- Echocardiography III • >3 trabeculations protruding from LV wall • Apical to papillary muscles • On single image plane • Intertrabecular spaces in continuity with ventricular cavity • Visualized on color doppler Stollberger C et al, Am J Cardiol 2002

  37. Validation of Jenni criteria • Blinded retrospective review of records comparing patients with: • LVNC (n=19) • Dilated cardiomyopathy (n=31) • Hypertensive heart disease (n=22) • Chronic severe valvulardisease (n=86) • Mitral regurgitation (n=22) • Aortic regurgitation (n=20) • Aortic stenosis (bi- and tri-leaflet valves, n=44) Frischknecht B et al, J Am Soc Echocardiogr 2005

  38. Frischknecht B et al, J Am Soc Echocardiogr 2005

  39. Frischknecht B et al, J Am Soc Echocardiogr 2005

  40. Accuracy of Combined Echocardiographic criteria • 199 patients referred to heart failure clinic • Compared with 60 normal controls • Evaluated all 3 echo criteria • 47 patients (24%) fulfilled any echo criteria • Chin et al, 19% • Jenni et al, 15% • Stollberger et al, 13% • Combined: 7% fulfilled all 3 criteria • 5 controls (8%) fulfilled echo criteria • 4 controls African-American • Current criteria too sensitive? Kohli S et al, EHJ 2008

  41. An underdiagnosed disease? • 27 pediatric patients with noncompaction(Ichida F et al, JACC 1999) • Diagnosis missed in 89% patients • Alternative diagnoses: dilated cardiomyopathy, apical hypertrophic cardiomyopathy, restrictive cardiomyopathy, myocarditis • 17 adults identified with noncompaction of 37,555 echos screened (Ritter M et al., Mayo Clin Proc 1997) • Onset of symptoms to diagnosis: 3.5±5.7 years

  42. Routine 2D TTE With Definity Chow et al, Circ 2007

  43. JACC 2005 • 7 patients with clinical noncompaction by echo or CMR (5M, 14-46 years) • At least 1 of following: similar appearance in 1st degree relatives, assoc neuromuscular d/o, thromboembolic disease, regional WMA • Comparison to: Healthy volunteers (n=45), athletes (n=25), HCM (n=39), dilated CMP (n=14), Hypertensive heart dz (n=17), AS (n=30)

  44. Methods • 17 segment model • Excluded true apex as thinner wall • Noncompacted segment • 2 myocardial layers with different tissue compaction • Segment of most pronounced trabeculations • Ratio of noncompacted to compacted myocardium in diastole measured

  45. Healthy volunteers: 91% subjects w/ NC in apex, 78% mid, 21% base. • Most common anterior • Similar distribution in other groups • Noncompaction patients significantly greater # segments involved (10±3) than all other groups

  46. CMR criteria • NC/C ratio >2.3 in diastole • Sensitivity 86% • Specificity 99% • PPV 75% • NPV 99%

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