hypertrophic cardiomyopathy update 2011€¦ · what is hypertrophic cardiomyopathy? presence of...
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Orlando, Florida – October 7-9, 2011
Hypertrophic Cardiomyopathy Update 2011
Rami Kahwash, MDAssistant Professor in Internal medicine
Division of Cardiovascular MedicineSection of Heart Failure/Transplant
The Ohio State University
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What is Hypertrophic Cardiomyopathy?
Presence of left ventricular hypertrophy unexplained by the loading condition
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Epidemiology of HCM
Common monogenetic cardiac disease Inherited as autosomal dominant with variable penetrance and expressionPrevalence is 0.2 % 1Incidence of sudden cardiac death (SCD) 1-2 % in children and adolescence and 0.5 to 1 % in adult 2, 3
1. Maron BJ et al, J Am Coll Cardiol. 20032. Elliot PM et al, J Am Coll Cardiol . 20003. Elliot PM et al, Lancet. 2004
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Clinical Presentation of HCM
Asymptomatic
Diastolic heart failure ( Mild refractory symptoms brunt out stage)
Arrhythmia syncope
SDC
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Genetics of HCM - 2011 Update
60 % of cases, HCM is caused by mutations in genes coding for cardiac sarcomere proteins
> 600 different sarcomeric gene mutations are reported , majority are missense
< 5 % of cases, mutations in genes encoding Z-disc proteins and proteins involved in Ca regulation
Autosomal dominant, but with incomplete penetrance and variable clinical expression
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7Desai MY et al, Circ Cardiovac Imaging. 2011
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Genes Mutations & Risk Stratification
Role of genes and risk stratifications is controversialEarly data suggested association:
a) MHC mutations and ↑ mortality
b) MYBPC mutations and later manifestation in life with milder form of the disease
c) Troponin T mutations and less hypertrophy but more disarray, fibrosis and SCD
d) ↑ CV events when positive genetic screening compared to negative test
e) Multiple mutations and more severe phenotype and ↑ SDC
a) Watkins H et al, N EngJ Med. 1992. b) Niimura H et al, N Eng J Med. 1998. C) Watkins H et al, N Eng J Med. 1995. d) Olivotto I et al, Mayo Clin proc. 2008. e) Ingles J et al, J Med Genet. 2005
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Role of Genetic Testing in 2011Family studies showed heterogeneous expressions of the same mutation among individuals within the same family.
No Role in DiagnosisNo Role in ICD decision
A= B/C
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Role of Genetic Testing in 2011Family Screening
Desai MY et al, Circ Cardiovac Imaging. 2011
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IMAGING and HCM- 2011
1-Assessment of MorphologyLV GeometryEvaluation of mitral valve and subvalvular apparatusEvaluation of myocardial perfusionEvaluation of myocardial fibrosis
2-Functional AssessmentEvaluation of LV cavity obstructionEvaluation of systolic and diastolic LV function
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ADVANTAGEAssessment of LV thicknessMitral valveLVOT gradientGlobal and regional function
LIMITATIONOperator dependantLimited acoustic windowsSuboptimal assessment of subvalvualr apparatusLimited septal and temporal resolution
ECHO
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ADVANTAGEGold standard to assess cardiac structure/LV massPapillary muscle morphologyMyocardial fibrosisRegional myocardial mechanics
LIMITATIONlimited availabilityDevice related contraindicationsPrognostic value of fibrous assessment is not well established
MRI
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27 year old man with HCM
Desai MY et al, Circ Cardiovac Imaging. 2011
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35 year old man with HCM
Desai MY et al, Circ Cardiovac Imaging. 2011
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Fibrosis and HCM Facts
Gadolinium-enhanced CMR provides an accurate method for detection of myocardial fibrosis 1
In HCM, fibrosis is patchy, midmyocardial and most commonly found in the regions of hypertrophy 2
The pattern and amount of fibrosis correlates closely with histolopathology 2
1)Simonetti OP et al, Radiology. 20012)Kwon DH et al, J Am Coll Cardiol. 2009
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O'Hanlon, R. et al. J Am Coll Cardiol 2010;56:867-874
Autopsy Correlation of Fibrosis With In Vivo LGE-CMR
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Fibrosis and SCD in HCM - 2011
Extent of fibrosis in patients aged < 40 years is associated with clinical markers of SCD, whereas in older patients, it is associated with progressive ventricular dysfunction 1Studies demonstrated association between degree of fibrosis and ventricular arrhythmia 2, 3
Emerging data demonstrates incremental prognostic values of myocardial fibrosis in predicting hard outcomes 4, 5
1) Moon JC et al, JACC. 2003 2) Kwon DH et al, JACC. 2009 3) Rubinshtein R, Circ Heart Fail. 2009 4) O’Hanlon R et al, JACC. 20105) Bruder O et al, JACC. 2010
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Fibrosis in HCM Conclusion - 2011
The long term clinical significance of fibrosis is uncertain
Long term prospective studies are still needed
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Sudden Cardiac Death in Hypertrophic Cardiomyopathy
Ommen S R , Gersh B J Eur Heart J 2009;eurheartj.ehp307
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Who Needs an ICD?
Risk factors Recommendations
0 Reassurance1 Individualize (MRI?)
2 + ICDPrior SCD ICD
Sustained VT ICD
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HCM
decrease obstructive Sx(dyspnea, CP, fatigue) Prevention of SCD
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SymptomaticObstructive HCM
Beta-blockade Verapamil or Diltiazem Disopyramide
Drug-refractorysymptoms
Surgical Septal Myectomy
Special Circumstances (i.e., comorbidity)
Septal Ablation
ACC/ESC Consensus Recommendation
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Thank You