Diseases of the Endocardium, Myocardium, and Pericardium Flashcards
(98 cards)
1
Q
What is Marfan Syndrome?
A
An autosomal dominant connective tissue disorder due to mutations in the fibrillin-1 gene.
Marfan Syndrome affects various organ systems and is characterized by specific physical features and health issues.
2
Q
What is the basis for diagnosing Marfan Syndrome?
A
Identification of major and minor diagnostic criteria in the skeletal, ocular, cardiovascular, and central nervous organ systems.
Diagnosis often involves clinical evaluations and family history.
3
Q
What is the primary cardiovascular manifestation of Marfan Syndrome?
A
Progressive dilation of the aortic root, leading to aortic dissection or rupture.
This condition poses significant risks and requires monitoring.
4
Q
What imaging technique is used to visualize the aortic root in Marfan Syndrome?
A
Echocardiography.
Echocardiography allows for non-invasive assessment of heart structures.
5
Q
Where are measurements typically taken during echocardiography for Marfan Syndrome?
A
On the aortic valve annulus, maximal diameter at the sinuses of Valsalva, sinotubular junction, and the more distal aorta.
These measurements help assess the degree of aortic dilation.
6
Q
What defines aortic dilation in Marfan Syndrome?
A
Aortic root diameter above the upper limit of the 95% confidence interval of the distribution in a large reference population.
This statistical approach helps in identifying abnormal enlargement.
7
Q
How can aortic dilation present in Marfan Syndrome?
A
It can be asymmetric, making it important to have measurements in the transverse plane of the aorta.
Asymmetry can complicate diagnosis and monitoring.
8
Q
What are some secondary echocardiographic findings in Marfan Syndrome?
A
Tricuspid and mitral valve prolapse, dilation of the main pulmonary artery.
These findings indicate further cardiovascular complications associated with the syndrome.
9
Q
What is primary restrictive cardiomyopathy?
A
A rare form of cardiomyopathy characterized by normal or decreased ventricular volumes with bi-atrial enlargement and impaired ventricular filling.
10
Q
What are the key features of restrictive cardiomyopathy?
A
Normal or decreased ventricular volumes, bi-atrial enlargement, normal left ventricular wall thickness, impaired ventricular filling with restrictive physiology, and normal (or near normal) systolic function.
11
Q
What is the inheritance pattern of familial restrictive cardiomyopathy?
A
Autosomal recessive.
12
Q
What are some etiologies of restrictive cardiomyopathy?
A
- Metabolic disease
- Carcinoid syndrome
- Hemosiderosis
- Amyloidosis
- Secondary to radiation therapy
13
Q
What does echocardiography typically show in restrictive cardiomyopathy?
A
Both ventricular cavities are typically small with decreased end diastolic dimensions and marked bi-atrial enlargement.
14
Q
What is pathognomonic in restrictive cardiomyopathy?
A
Marked bi-atrial enlargement.
15
Q
True or False: Patients with restrictive cardiomyopathy often require heart transplantation once symptomatic.
A
True.
16
Q
What does Doppler echocardiography demonstrate in restrictive cardiomyopathy?
A
Evidence of restrictive physiology, including tricuspid and mitral valve inflow, pulmonary veins, and tissue Doppler.
17
Q
Fill in the blank: Restrictive cardiomyopathy is characterized by abnormal diastolic filling or compliance with normal or decreased _______ of the ventricular chamber.
A
diastolic volume
18
Q
What is the typical systolic function in restrictive cardiomyopathy?
A
Near normal or normal.
19
Q
What characterizes idiopathic infantile arterial calcification?
A
Extensive calcium deposition in the internal elastic lamina and intimal proliferation of the heart and medium large sized arteries causing narrowing of vessel lumens.
20
Q
What type of genetic inheritance does idiopathic infantile arterial calcification exhibit?
A
Autosomal recessive.
21
Q
What is the prognosis for idiopathic infantile arterial calcification?
A
Poor prognosis.
22
Q
What are the treatment options for idiopathic infantile arterial calcification?
A
Limited treatment options.
23
Q
Which genetic mutation is involved in idiopathic infantile arterial calcification?
A
Inactivation of ectonucleotide pyrophosphatase/phosphodiesterase.
24
Q
What are some presenting symptoms of idiopathic infantile arterial calcification?
A
- Lethargy
- Poor feeding
- Vomiting
- Respiratory distress
- Shock
25
What prenatal ultrasound findings are associated with idiopathic infantile arterial calcification?
* Fetal hydrops
* Cardiomegaly
26
What postnatal echocardiogram findings are notable in idiopathic infantile arterial calcification?
* Hyperechogenicity
* Arterial wall thickening
* AV valve regurgitation
* Ventricular dysfunction
27
What is Kawasaki disease?
An immune mediated vasculitis of the medium and large arteries
## Footnote
Kawasaki disease primarily affects children and can lead to serious cardiovascular complications.
28
What are the cardiac manifestations of Kawasaki disease?
* Coronary artery ectasia and aneurysms
* Pericarditis
* Myocarditis
* Pericardial effusion
* Valvulitis (most commonly of the mitral valve)
## Footnote
These manifestations can lead to significant heart complications.
29
Which segments of the coronary arteries are most commonly involved in Kawasaki disease?
Proximal segments and branching points of the coronary arteries
## Footnote
This involvement can lead to serious cardiovascular issues.
30
What types of coronary aneurysms can occur in Kawasaki disease?
* Fusiform
* Saccular
* Cylindrical
* Segmented
## Footnote
The type of aneurysm can affect the treatment and prognosis.
31
What risks are associated with coronary artery aneurysms in Kawasaki disease?
* Stenosis
* Thrombosis
* Myocardial ischemia
* Myocardial infarction
## Footnote
These risks highlight the importance of monitoring patients with coronary artery involvement.
32
What role do echocardiograms play in Kawasaki disease?
Assessment of patients with potential coronary artery involvement
## Footnote
Echocardiograms are typically obtained at diagnosis, two weeks later, and at 6-8 weeks.
33
When should echocardiograms be obtained in Kawasaki disease patients?
At diagnosis, two weeks later, and 6-8 weeks
## Footnote
More frequent echocardiograms may be needed if coronary artery ectasia or aneurysms are identified.
34
What are the most common sites of coronary involvement in Kawasaki disease?
* Right coronary artery (~78%)
* Left anterior descending coronary artery (~88%)
* Circumflex (~26%)
* Left main coronary artery (~12%)
## Footnote
Awareness of these sites is crucial for effective monitoring and intervention.
35
What is the Z score criterion for coronary artery abnormalities in Kawasaki Disease?
LAD or RCA Z score ≥ to 2.5
## Footnote
LAD refers to Left Anterior Descending artery and RCA refers to Right Coronary Artery.
36
What is the maximum coronary artery diameter for children under 5 years to be considered abnormal in Kawasaki Disease?
>3 mm
## Footnote
Diameter measurements are critical for diagnosing coronary artery involvement in Kawasaki Disease.
37
What is the maximum coronary artery diameter for children 5 years or older to be considered abnormal in Kawasaki Disease?
>4 mm
## Footnote
This criterion helps to determine the severity of coronary artery involvement.
38
What is the criterion for lumen diameter in relation to adjacent segments in Kawasaki Disease?
Lumen diameter ≥1.5 times adjacent segment
## Footnote
This measurement helps assess the extent of coronary artery dilation.
39
What indicates that the coronary lumen is abnormal in Kawasaki Disease?
Coronary lumen is clearly irregular
## Footnote
Irregularities in the lumen can indicate underlying pathology associated with Kawasaki Disease.
40
What is the most common cause of acquired heart disease in children and young adults?
Rheumatic fever
## Footnote
Rheumatic fever is a significant concern globally in these age groups.
41
What typically precedes the development of rheumatic fever?
Untreated Group A Strep (GAS) pharyngitis
## Footnote
This condition usually occurs days to weeks after the initial infection.
42
What types of cardiac involvement can occur due to rheumatic fever?
Pericarditis, myocarditis, endocarditis
## Footnote
Cardiac involvement is common in rheumatic fever.
43
Which valves are most commonly affected by rheumatic fever?
Mitral and aortic valves
## Footnote
The mitral valve is the dominant valve affected.
44
What are the potential effects of rheumatic fever?
Acute and/or chronic
## Footnote
The effects can vary based on the severity and duration of the condition.
45
What is the sequence of valve involvement in rheumatic fever?
Mitral valve, aortic valve, tricuspid valve, pulmonic valve
## Footnote
The mitral valve is primarily affected, followed by others.
46
What condition can occur as a result of valvulitis in rheumatic fever?
Mitral regurgitation
## Footnote
This occurs secondary to annular dilation and chordal elongation.
47
What is the most common cause of mitral stenosis in chronic rheumatic heart disease?
Combination of leaflet thickening, fusion of the commissures, cusps, and chordal shortening
## Footnote
These structural changes lead to mitral stenosis.
48
What other cardiac conditions often co-occur with aortic regurgitation?
Aortic stenosis
## Footnote
Aortic regurgitation and aortic stenosis frequently happen together.
49
What is Infective Endocarditis?
A microbial infection of the endothelial surface of the heart
50
Which heart valves are most commonly involved in Infective Endocarditis?
Mitral and aortic valves
51
What is the predominant underlying substrate for infective endocarditis in children over the age of 2 years?
Congenital heart disease
52
List the most common underlying predisposing conditions for infective endocarditis.
* Ventricular septal defect
* Patent ductus arteriosus
* Aortic valve abnormalities
* Tetralogy of Fallot
53
What are the three components of the pathogenesis of Infective Endocarditis?
* Endothelial damage
* Platelet adhesion
* Microbial adherence to vegetation or intact valvular tissue
54
Which organisms have specific surface receptors for fibronectin that promote adhesion of bacteria to thrombus formation?
* Staphylococcus aureus
* Streptococcus viridans
* Streptococcus pneumoniae
* HACEK organisms
* Group A, C, and G streptococci
* Candida albicans
55
What criteria is used to help diagnose Infective Endocarditis?
The Duke criteria
56
The Duke criteria uses a combination of which types of findings to diagnose Infective Endocarditis?
* Clinical
* Microbiological
* Pathologic
* Echocardiographic
57
Fill in the blank: Infective Endocarditis usually involves the heart _______.
[valves]
58
What is an oscillating mobile intracardiac mass or vegetation attached to valve leaflets or endocardium?
A finding associated with endocarditis or other cardiac conditions
## Footnote
This mass can indicate the presence of infectious vegetation.
59
What does an annular abscess indicate in echocardiographic findings?
A possible complication of infective endocarditis or valve surgery
## Footnote
It can lead to significant valvular dysfunction.
60
What is prosthetic valve dehiscence?
The separation of a prosthetic valve from its annulus
## Footnote
This condition may lead to severe regurgitation and requires urgent intervention.
61
What does new valvar regurgitation indicate in echocardiographic findings?
A potential new onset of valve dysfunction
## Footnote
It can suggest acute valve failure or complications such as endocarditis.
62
What is dilated cardiomyopathy (DCM)?
A myocardial disorder characterized by left ventricular chamber enlargement and systolic dysfunction, often leading to congestive heart failure.
## Footnote
DCM involves progressive dilation with impaired systolic function of the left ventricle, sometimes affecting both ventricles, with normal ventricular wall thickness.
63
What are the main consequences of dilated cardiomyopathy?
Progressive heart failure, decline in LV contractile function, ventricular and supraventricular arrhythmias, conduction system abnormalities, thromboembolism, acute and/or chronic heart failure.
## Footnote
LV stands for left ventricle.
64
What are some primary causes of dilated cardiomyopathy?
Infectious agents, toxins, autoimmune disorders, and genetic factors.
## Footnote
Includes viruses (e.g., coxsackievirus, adenovirus), chronic alcohol consumption, chemotherapeutic agents, and systemic disorders.
65
What infectious agents are commonly associated with dilated cardiomyopathy?
Coxsackievirus, adenovirus, parvovirus, HIV, and others.
## Footnote
These can lead to myocarditis, which is a major cause of DCM.
66
What is the most common form of pediatric cardiomyopathy?
Dilated cardiomyopathy (DCM).
## Footnote
DCM frequently manifests in children and can lead to serious complications.
67
What is the primary etiology for myocarditis in the pediatric population?
Viral or post viral infection.
## Footnote
Myocarditis is the single largest cause of DCM in individuals under 18 years of age.
68
What percentage of dilated cardiomyopathy cases are reported as familial?
About 20% to 35%.
## Footnote
Familial cases often have incomplete and age-dependent penetrance.
69
What are some toxic causes of dilated cardiomyopathy?
Chronic excessive alcohol consumption, chemotherapeutic agents (anthracyclines), and heavy metals (cobalt, lead, mercury, arsenic).
## Footnote
These substances can lead to myocardial damage.
70
What are the key echocardiographic assessments for dilated cardiomyopathy?
Left ventricular dimensions, wall thickness, volumes, mass, wall stress, circumferential fiber shortening, shortening fraction, ejection fraction, sphericity.
## Footnote
These assessments help determine the presence and severity of ventricular dilation and dysfunction.
71
Fill in the blank: DCM often leads to _______.
[congestive heart failure]
72
True or False: The left ventricular wall thickness is typically abnormal in dilated cardiomyopathy.
False.
## Footnote
DCM is characterized by normal ventricular wall thickness despite dilation.
73
What is primary hypertrophic cardiomyopathy?
A genetic cardiac disease caused by mutations in genes encoding proteins of the sarcomere.
74
What is the most common genetic cardiomyopathy?
Primary hypertrophic cardiomyopathy.
75
What risk do patients with primary hypertrophic cardiomyopathy face?
Development of severe left ventricular hypertrophy.
76
Which parts of the heart are preferentially involved in hypertrophic cardiomyopathy?
Interventricular septum, lateral wall, posterior septum, and LV apex.
77
What is typically characterized by asymmetric septal hypertrophy?
Hypertrophic cardiomyopathy.
78
What measurements are used for accurate quantification of interventricular septal and left ventricular posterior wall thickness?
M mode measurements at end diastole.
79
What abnormality can occur in the structure of the mitral valve in hypertrophic cardiomyopathy?
It can be abnormally thickened or elongated.
80
What complication can arise from the narrowing of the left ventricular outflow tract?
Dynamic obstruction across the left ventricular outflow tract.
81
List some complications of hypertrophic cardiomyopathy.
* Sudden death
* Ischemia
* Diastolic dysfunction
82
What should echocardiographic assessment focus on in hypertrophic cardiomyopathy?
* Assessment of left ventricular outflow tract obstruction
* Assessment of the degree and distribution of LV hypertrophy
* Assessment of systolic and diastolic LV function
* Assessment of left atrial size
* Systolic anterior motion (SAM) with dynamic left ventricular outflow tract obstruction
83
What echocardiographic criteria aid in the diagnosis of hypertrophic cardiomyopathy?
* Unexplained maximal wall thickness >15 mm in any myocardial segment
* Septal/posterior wall thickness ratio >1.3 in normotensive patients
* Septal/posterior wall thickness ratio >1.5 in hypertensive patients
* Systolic anterior motion (SAM) of the mitral valve
* Fixed or dynamic left ventricular outflow tract obstruction
84
What is left ventricular non compaction (LVNC)?
A type of cardiomyopathy characterized by prominent trabeculations in the left ventricle, deep recesses between trabeculations, and a thin compacted myocardial layer.
85
What is the frequency of left ventricular non compaction (LVNC) in children?
It is the third most frequent cardiomyopathy in children (~9%).
86
What percentage of adults with isolated LVNC have a familial disease?
Familial disease occurs in 18-50% of adults with isolated LVNC.
87
What is a notable feature of familial left ventricular non compaction (LVNC)?
There is intrafamilial phenotypic variability.
88
Define left ventricular non compaction (LVNC)
A cardiomyopathy with prominent trabeculations and a thin compacted myocardial layer.
89
True or False: LVNC is the most common cardiomyopathy in children.
False
90
Fill in the blank: Familial disease occurs in _____ of adults with isolated LVNC.
[18-50%]
91
What is the embryologic etiology of certain cardiac conditions?
Intrauterine arrest of compaction of the fetal myocardium and subsequent persistence of deep trabecular recesses in the myocardial wall.
## Footnote
This refers to developmental abnormalities in the heart that can arise during fetal development.
92
What are some acquired etiologies of cardiac conditions?
Seen in athletes, pregnancy, and patients with sickle cell anemia.
## Footnote
These conditions can lead to physiological changes in the heart muscle.
93
What are some molecular causes associated with genetic etiologies of cardiac conditions?
FKBP12 cytoplasmatic protein deficiency with upregulation of the BMP10 gene; upregulation of Notch1-activated protein.
## Footnote
These molecular changes can affect heart development and function.
94
Name some genes involved in genetic cardiac conditions.
* β-myosin heavy chain
* α-cardiac actin
* cardiac troponin T
* tafazzin
* α-Dystrobevin
* Lamin A/C
* ZASP/LDB3
* Dystrophyn
* HCN4
* MYH7
## Footnote
Mutations in these genes can lead to various cardiomyopathies and other heart diseases.
95
What is a characteristic echocardiographic finding in left ventricular noncompaction?
Segmental thickening of the left ventricular myocardial wall, with prominent trabeculations and deep recesses
## Footnote
This finding is crucial for the diagnosis of left ventricular noncompaction cardiomyopathy.
96
What does the Jenni Index measure?
Noncompacted to compacted ratio > 2 at end-systole
(i) Bilayered myocardium with multiple, prominent trabeculations in end-systole
(ii) NC/C ratio of >2 : 1
(iii) Communication with the intertrabecular space demonstrated with color Doppler
(iv) Absence of coexisting cardiac abnormalities
Ed diastole
## Footnote
This index is the most validated with pathologic specimens.
97
What is the Chin Index used for?
Compact layer to distance between epicardial surface to the peak of the trabeculations <0.5
Description
(i) Prominent trabeculations with deep recesses
(ii) Decrease in ratio from MV level to papillary muscle level of the distance from the epicardium to the trough of the trabeculations to the epicardium to the peak of the trabeculations
(iii) Increasing LV wall thickness from base to apex
(iv) Compact layer to distance between epicardial surface to the peak of the trabeculations ≤0.5
End-diastole
## Footnote
This index helps assess the degree of noncompaction in the myocardium.
98
What are the Sollberger Criteria?
Trabeculations, apically to the papillary muscles, with same echogenicity of the myocardium and perfusion of the intertrabecular spaces from the left ventricular cavity
(i) Two-layer myocardium in which the noncompacted layer is thicker than the compacted myocardium
(ii) > 3 prominent trabeculations protruding from the LV wall apical to the papillary muscles
(iii) Perfused intertrabecular spaces by color Doppler
## Footnote
These criteria help in the diagnosis of left ventricular noncompaction by evaluating echogenicity and perfusion.
