Download non compacted myocardium diagnostic criteria and management

NON COMPACTED MYOCARDIUM
DIAGNOSTIC CRITERIA AND MANAGEMENT
Denis Pellerin MD, PhD, FESC
Consultant Cardiologist
Director of Echocardiography
Clinical Lead for Cardiac Imaging
The Heart Hospital
University College London Hospitals NHS FOUNDATION Trust
•History
1984. Engberding and Bender. Persistence of
isolated myocardial sinusoids
1990. Chin et al. Isolated non-compaction of the
left ventricular myocardium
•Genetically determined disturbance of the
myocardial compaction process during fetal
endomyocardial morphogenesis
•No other cardiac anomalies
Clinical Features in adults
Engberding R et al. 2010
Clinical Features in children
Engberding R et al. 2010
Cardiac embryology and pathogenesis
•The myocardium develops from two different layers, a trabecular layer
(endocardium) and a compact layer (subepicardial). Before the coronary
vessels develop, the embryonal myocardium consists of a “spongy”
meshwork of trabecular myocardial fibers and intertrabecular recesses that
communicate with the cavum of the ventricle to receive their blood supply.
In the 5th to the 8th week of embryonal development of the human
myocardium, the ventricular myocardium gradually becomes compacted.
This process of compaction proceeds from the epicardium to the
endocardium, and from the base of the heart to its apex.
•Pathogenetic mechanism that underlies NCCM :
Abnormal arrest of embryonal process of endomyocardial morphogenesis.
Myocardial dissection, myocardial tearing due to dilatation, metabolic
defects, and compensatory hypervascularization
Courtesy Prof. N Brown SGHMS
Maron BJ et al. Circulation 2006
Genetics
•Familial clustering has been described in up to 44%
of cases with heterogeneous molecular genetic basis
•Affected chromosomes: autosomal dominant and Xlinked inheritance
Various mutations in the G 4.5 gene for tafazzin (on Xq28)
alpha-dystrobrevin (DTNA)
LIM-domain binding proteins: LDB3, cypher/ZASP, lamin
A/C
Sarcomere proteins
– beta-myosin (MYH7)
– alpha-cardiac actin (ACTC)
– Cardiac troponin T (TNNT2)
Pathophysiology
•Coronary angiography reveals no abnormalities in patients with
NCCM
•PET shows a diminished reserve of coronary blood flow in the
compact and non-compact myocardial segments of the left ventricle.
Similar findings are obtained with single SPECT
•Impaired microcirculation can lead to impaired left ventricular
contraction and can account for the histologically demonstrable
subendocardial fibrosis. Marked trabeculation can impair the diastolic
function of the left ventricle with abnormal relaxation and restricted
filling.
•These systolic and diastolic disturbances of left ventricular function, if
severe enough, can lead to the clinical manifestations of heart failure
that are seen in patients with NCCM.
Jenni R et al. Heart 2001
Echocardiographic criteria for the diagnosis of
isolated non-compaction cardiomyopathy
● There are at least four prominent trabecula and deep
intertrabecular recesses.
● Blood flow between the cavum of the left ventricle and the
recesses is demonstrable with CFM or through the use of
ultrasonographic contrast medium
● The non-compact mural segments have a typical bilaminar
structure, and the non-compact subendocardial layer is at least
twice as thick as the compact subepicardial layer in systole. Noncompaction is seen mainly at the cardiac apex and in the inferior,
posterior, and lateral walls
● No other cardiac abnormalities are present.
•Non-Compacted layer/Compacted layer> 2
Jenni R et al. Heart 2001.
DTI
TT
SRI
Strain
• Family Screening: son, age 4, asymptomatic
• 24-hour ECG recording
• Regular FU including ECG and TTE
Apical HCM
LV non compaction
Clinical severity
•Variable
•Heart failure
Thrombo embolic events, mainly when AF
Arrhythmias
•Symptomatic patients have poor prognosis
Treatment
•Heart failure.
Medical therapy, CRT, ICD (family tree),
transplantation
•Prevention of thrombo embolic events.
Long-term anticoagulation when AF and impaired
function or when thrombi
•Arrhythmias, WPW
Prognosis and management
•Determined by
Extent and degree of progression of heart failure
Severity of arrhythmia
Occurrence of thrombo embolic events
•An aggressive treatment strategy is recommended for high-risk
patients, including ICD implantation and early listing for heart
transplantation where appropriate
•Factors of poor prognosis:
Enlarged end-diastolic left ventricular diameter when first measured
NYHA class III or IV
Permanent atrial fibrillation
Bundle branch block on ECG
•Symptomatic and high-risk patients should have cardiological followup examinations at least twice per year (Murphy RT et al. EHJ 2005)
Adult LVNC
58%
Oechslin E et al. JACC 2000;36:493-500
Prognosis and management
•Asymptomatic patients with NCCM and patients who
have neither a cardiac arrhythmia nor any left ventricular
dysfunction do not require any treatment
•Patients should be informed about the presence of the
disease and about the symptoms that might arise in
future, reassured about the generally favourable
prognosis, and told of the importance of annual
cardiological follow-up.
•Family screening
CONCLUSION
● Non-compaction cardiomyopathy is classified as primary genetic
cardiomyopathy and is still rarely considered in the differential
diagnosis of chronic heart failure.
● Its clinical manifestations vary in severity and include heart failure,
thromboembolic events, and arrhythmias.
● The diagnosis is usually made by echocardiography or cardiac
MRI. Often mis-/underdiagnosed.
● Depending on the severity of the disease, it is treated with the
usual treatments of heart failure, anticoagulation, and antiarrhythmic treatment, including the implantation of an ICD in highrisk patients.
● Symptomatic patients have an adverse prognosis and should
undergo cardiological follow-up at least once every six months.