"le malattie cardiache infiltrative, diagnosi differenziale"
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La Malattia di Fabry: conoscere per riconoscere17 giugno 2015, Udine
Le malattie cardiache infiltrative, diagnosi differenziale
Daniela MianiU.O. Scompenso cardiaco e Trapianti
S.O.C. Cardiologia - Dipartimento Cardiotoracico Ospedale Santa Maria della Misericordia di Udine
Definition• Infiltrative cardiomyopathies are characterized by the
deposition of abnormal substances that cause the ventricular walls to become progressively rigid, thereby impeding ventricular filling
• Some infiltrative cardiac diseases increase ventricular wall thickness (Table 1), while others cause chamber enlargement with secondary wall thinning (Table 2).
• In infiltrative disorder acculation of abnormal substances can be whitin myocytes with hypertrophy or in the myocardialinterstitium without myocyte hypertrophy
Physiopathology and Imaging• Infiltrative cardiomyopathy are characterized by
progressive diastolic dysfuncion that anticipate the finalsystolic dysfunction
• Doppler echocardiography assess the diastolic physiology• and atrial remodelling are the hall marks of restrictive
disease• CMR imaging and LGE provide incremental information:• Gadolinium causes magnetic hyperenhancement when
extracellular space is expanded• CMR is used to characterize the type of infiltrative disease
by the location and distribution of LGE.
Seward et al 2010 JACC;55:1769–79
Conditions Presenting With Increasaed LV Mass and Thic k Ventricular Walls
Seward et al 2010 JACC;55:1769–79
Conditions Presenting With Increasaed LV Mass and Thic k Ventricular Walls
Seward et al 2010 JACC;55:1769–79
Conditions With Dilated LV and Infarct Pattern
Seward et al 2010 JACC;55:1769–79
Conditions With Dilated LV and Infarct Pattern
Hypertrophic cardiomyopathy Hypertensive heart diseas e
Age at Presentation 17–18 yrs Adults
History and ClinicalMaybe asymptomatic, dyspnea,angina, syncope, sudden death History of hypertension
EchocardiographyAsymmetrical hypertrophy,small LV cavity, LVOT obstruction, normal EF
Symmetrical increase in LV wall thickness, mild LV dilation, normal EF
ECG ProfileIncreased QRS complex voltage, pseudo–delta wave, giant T-wave inversion
Increased QRS complex, nonspecific ST-T-wave changes
CMR LGEPatchy, midwall, junctions of the ventricular septum and RV
No pattern, predominantly subendocardial
BiopsyMyocyte hypertrophy, myofibrillar disarray, and interstitial fibrosis
Enlarged myocytes with enlarged or replicated nuclei
Increasaed LV Mass and Thick Ventricular WallsDifferential
Ischemic cardiomyopathy Idiopathic dilated cardiomyopathy
Age at Presentation Adult Adult
History and Clinical
Coronary artery disease, congestive heart failure
Congestive heart failure, no known cardiovascular disease
Echocardiography
Dilated LV, regional hypokinesiscorresponding to perfusion territory, decreased systolic function
Dilated LV with global systolic dysfunction
ECG Profile
Multiform premature ventricular complexes, nonsustained ventricular tachycardia
Atrial fibrillation
CMR LGE
Subendocardial, different degrees of transmural extension, corresponds to perfusion territory No LGE, or if present, midwall and patchy
Biopsy
Conditions With Dilated LV and Infarct PatternDifferential
Amyloidosis• Systemic amyloidosis is a heterogeneus disorder
characterized by extracellular deposition of 8-10 nm fibrilsoriginate from the misfolding of an altered proteinprecursor in various tissues. The amorphous material iscalled amyloid.
• AL Amyloidosis can occure as primary disorder or secondary to hematologic malingnacy as multiple myeloma, Transthyretin (TTR) amyloidosis, systemicsenile amyloidosis, Systemic secondary amiloidosis
• Amyloid deposition can affect myocardium, valves, coronary vessels.
Differential diagnosis (DD)
• DD Is based on ECG , echocardiogram(Doppler) and cardiac RMN and histologicfindings from fat pad aspirate, salivary glands, gingiva and rectal biopsy, endomyocardialbiopsy
• DDIncludes: hypertrophic cardiomyopathy, hypertensive heart disease, infiltrativecardiomyopathy , storage diseases: DanonDisease and Fabry Disease.
Low voltage precordial leads on ECG
Low voltage precordial leads on ECG
Amyloidosis RMN
Amyloidosis RMN
Amyloidosis
Amyloidosis
EMB: colorazione Rosso Congo
BEM: birifrangenza al Rosso Congo
Danon Disease Background
• Danon Disease is a rare X linked dominantskeletal and cardiac muscle disease with mulisystemic clinical manifestations.
• young men present a clincal triade characterizedby skeletal and cardiac myopathy, cardiacconduction abnormalities, arrhythmias, and intelectual impairment
Background
• The disease is caused by mutations in LAMP-2 gene (Xq24), encoding for a lysosomal-associated membrane protein The product is involved in the fusion of lysosomes with other membranes and also acts as a receptor for proteins to be imported into lysosomes
• LAMP-2 deficiency leads to pathological glycogen storage in several tissues, such as retinal, hepatic and pulmonary tissue
CM, female 42y
• Symptomatic since 34yrs for palpitations
• Physical examination: normal.
• EKG: normal
• Echo: normal; RMN: normal
• Holter monitoring: BEV >30/h, > 50/h, couplets, NSVT max 6 beats.
• Genetic screening in 2005: LAMP2 +
CM, female 42y ECG
Sarcoidosis• Sarcoidosis is a multisystemic disease characterizerd by
the formation of granulomas in many tissues.
• Pulmonary involvement with hilar lymphadenopathy is the most frequent presentation
• Secondary skin involvement (erytema nodosus)• Cardiac involvement my be the presenting feature of
sarcoidosis• Cardiac sarcoidosis in autopsy series is present between
20% and 30% of cases
Clinical presentation• Dyspnea• Abnormal electrocardiogram• Asymptomatic abnormalities on echocardiography or at
MRI • Dyspnea� DD with dilated cardiomyopathy• Acute sarcoid myocarditis� DD idiopathic giant cell
myocarditis• ECG abnormalities: isolate complete heart block in young
person� DD with Lyme disease• ECG abnormalities: frequent ventricular arrhythmias �DD
with right ventricular cardiomyopathy.
Echocardiography, Cardiac MRI• Echo presents regional wall motion abnormalities• Areas of wall thinning in the septum (basal anterior
septum)• Cardiac MRI and PET are more sensitive and specific for
diagnosis• Cardiac MRI demostrates both scar and edema • Acute myocardial inflammation presents focal areas of
tickening and increased signal intensity on T2 weightedimages and early Gadolinium Enhancement in the basaland lateral segments.
FDG PET demonstrating diffuse, patchy, and intense FDG uptake throughout the left and right ventricular walls
Echocardiogram: mitral flow pattern
Conclusions
• Infiltrative cardiomyopthies (IF) are relatively raredisorders :
• morphologic characteristics are variable• IF Tend to be misdiagnosed• Clinical suspect, ECG, Echocardiography(Doppler) and Cardiac RMN in congiunction withclinical manifestations are foundamental inestablishing an accurate diagnosis and in theplanning of the appropriate treatment