Inflammation Injury and Selected Disease Processes Causing Aortic Root and Aortic Valvular Inflammation Flashcards
What is Marfan syndrome (MFS)?
An autosomal dominant disease characterized by cardiovascular, ocular, and skeletal problems.
What is the estimated prevalence of Marfan syndrome?
1 in 3000–5000 individuals.
In what percentage of Marfan syndrome cases do affected individuals have unaffected parents?
Approximately one-third.
What is the most common cardiovascular complication in patients with Marfan syndrome?
Progressive aortic root enlargement.
What are potential outcomes of ascending aortic aneurysms in Marfan syndrome?
Acute type A aortic dissection, aortic rupture, or aortic regurgitation.
What is the management approach for aortic disease in Marfan syndrome patients?
Regular imaging, β-adrenergic receptor antagonist therapy, and prophylactic aortic repair when dilation is ≥5.0 cm.
What was the average life expectancy of patients with Marfan syndrome before surgical repair options became available?
45 years.
What has improved the average life expectancy of patients with Marfan syndrome to 70 years?
Improvements in medical and surgical management of aortic disease.
Where does aortic root dilatation typically begin in Marfan syndrome?
At the sinuses of Valsalva.
What should be evaluated annually in patients with Marfan syndrome?
The proximal aorta.
What imaging techniques are useful for assessing aortic root size?
Transthoracic echocardiography, magnetic resonance imaging, and transesophageal echocardiography.
When is prophylactic aortic root replacement recommended?
When the diameter reaches 5.0 cm.
What is the cumulative risk increase of aortic rupture or dissection when an aneurysm exceeds 6 cm?
A fourfold increase.
What is a composite valve graft replacement?
A surgical procedure involving mobilizing buttons of aortic tissue around coronary arteries for anastomosis to an aortic graft.
What are the most common causes of late death after composite valve graft repair?
Dental work, invasive procedures, dissection or rupture of the residual distal aorta.
What are ‘valve-sparing’ aortic root replacement procedures?
Surgical procedures that preserve the patient’s native aortic valve.
What is the Yacoub procedure known as?
The ‘remodeling’ technique.
What is the David procedure considered?
The ‘reimplantation’ technique.
What are some skeletal manifestations of Marfan syndrome?
Tall stature, long fingers and toes, joint laxity, pectus carinatum, and scoliosis.
What ocular manifestation is common in Marfan syndrome?
Ectopia lentis.
What percentage of patients with Marfan syndrome have mitral valve prolapse?
70–90%.
What is the primary method for diagnosing Marfan syndrome?
The Ghent criteria.
What are the two cardinal features of Marfan syndrome according to the revised Ghent criteria?
Aortic root aneurysm/dissection and ectopia lentis.
What gene is primarily associated with Marfan syndrome?
Fibrillin gene (FBN1) on chromosome 15.
What type of mutations are most commonly found in FBN1 related to Marfan syndrome?
Missense mutations.
What is relapsing polychondritis?
A rare disorder characterized by inflammation and destruction of cartilaginous structures.
What is the most common symptom at the presentation of relapsing polychondritis?
Bilateral auricular chondritis.
What type of arthritis is associated with relapsing polychondritis?
Arthritis, along with other symptoms like fever and neurosensory hearing loss.
What treatment is typically required for relapsing polychondritis?
Corticosteroids.
What is seronegative spondyloarthritis?
A group of diseases including ankylosing spondylitis and reactive arthritis, characterized by the absence of rheumatoid factor.
What are the chronic arthritides associated with idiopathic inflammatory bowel diseases?
Ulcerative colitis and Crohn’s disease
These conditions are recognized as distinct from rheumatoid arthritis.
What do patients with idiopathic inflammatory bowel diseases not have?
Rheumatoid factor or antinuclear antibodies (ANAs)
This distinguishes them from other types of arthritis.
Which joints are primarily affected in ankylosing spondylitis?
Axial skeleton, especially sacroiliac joints
Joint fusion typically begins in the sacroiliac joints.
What are the characteristic radiographic findings in ankylosing spondylitis?
Sacroiliitis, squaring of vertebrae, and ossification of spinal ligaments (syndesmophytes)
These findings give the spine a ‘bamboo’ appearance.
What percentage of patients with reactive arthritis experience spinal changes such as sacroiliitis?
20%
Similar spinal changes can also occur in psoriatic arthritis.
What is a common ocular manifestation in patients with spondyloarthritis?
Acute anterior uveitis
This occurs in approximately 25% of patients.
What is a specific cardiac lesion associated with spondyloarthritides?
Aortic regurgitation
Other lesions include atrioventricular or bundle branch conduction defects.
What is the association between HLA-B27 positivity and spondylitic heart disease?
Found in approximately 5% of ankylosing spondylitis cases
This complication usually occurs after many years of having arthritis.
What are the common cardiac manifestations in systemic lupus erythematosus (SLE)?
Pericarditis, Libman-Sacks endocarditis, and premature atherosclerosis
Other complications include arrhythmias and myocardial inflammation.
What demographic is most susceptible to systemic lupus erythematosus (SLE)?
Young women in the childbearing years, especially Africans, Hispanics, and Asians
SLE can occur in people of any age or race.
Which autoantibodies are characteristically found in SLE patients?
Double-stranded DNA (dsDNA), Smith (Sm), ribonucleoproteins, and histones
These autoantibodies account for positive ANA tests in more than 98% of patients.
What is the most common cardiac complication in SLE patients?
Pericarditis
Occurs in 19–48% of patients.
What is a significant factor contributing to premature atherosclerosis in SLE patients?
Immunologic damage and systemic inflammation
Long-term corticosteroid therapy also plays a role.
What is the prognosis of systemic lupus erythematosus (SLE) with modern treatment?
More than 90% survival at 10 years
This is a significant improvement compared to survival rates in the 1950s.
What type of inflammatory lesions are found in the heart of SLE patients?
Acute and healed inflammatory lesions with immune complex deposits
The major cause of lupus carditis is believed to be immune complex-mediated injury.
What therapy is recommended for mild symptomatic lupus pericarditis?
Indomethacin or other NSAIDs
Corticosteroids may be required for more severe cases.
What is the typical presentation of pericarditis in SLE patients?
Substernal, position-related, pleuritic chest pain
It may be associated with a pericardial rub and diffuse ST-segment elevation on ECG.
What is the recommended dose of indomethacin for treating symptoms?
75–150 mg/day, divided into three doses
What alternative treatment may be used for patients requiring corticosteroids?
Low-to-moderate doses of corticosteroids (10–40 mg prednisone equivalent per day)
What is the prompt treatment for large effusions or pericardial tamponade?
High-dose intravenous corticosteroids (60–80 mg prednisone equivalent per day in two divided doses)
What percentage of reported series show clinically evident myocardial involvement?
8–25%
What are some recognized pathologic forms of myocardial involvement?
Diffuse small-vessel obliteration and myocyte destruction
What causes myocardial involvement in SLE patients?
Immune complex deposition, myocardial cell degeneration, lymphocyte infiltration, and antiphospholipid antibodies
List the earliest clinical manifestations of myocarditis.
- Resting tachycardia
- Atypical chest discomfort
- Third heart sound
- Nonspecific ST-T wave changes on ECG
What can echocardiography reveal in cases of myocarditis?
- Multichamber enlargement
- Global myocardial dyskinesis
- Reduced ejection fraction
What is the immediate treatment for active myocarditis?
Prednisone (60–100 mg/day in two divided doses)
What is a significant cause of morbidity and mortality in SLE patients?
Premature atherosclerosis
What percentage of SLE patients may experience myocardial infarction?
4% to 45%
What factors contribute to premature atherosclerosis in SLE patients?
- Lupus itself
- Antiphospholipid antibodies
- Endothelial dysfunction
- Traditional cardiovascular risk factors
What can coronary artery occlusion in SLE patients result from?
Active vasculitis
What is Libman-Sacks endocarditis?
A sterile verrucous endocarditis affecting the mitral valve leaflets
What percentage of lupus patients have Libman-Sacks endocarditis?
Approximately 43%
What are the typical histological findings in Libman-Sacks endocarditis?
Lymphocytes, plasma cells, fibrous tissue, fibrin, platelet thrombi, and occasionally hematoxylin bodies
What is a common complication associated with antiphospholipid antibodies?
Spontaneous venous or arterial thromboses
What is the treatment to reduce thrombotic complications from antiphospholipid antibodies?
Chronic anticoagulation with warfarin
What is the effect of lupus anticoagulant on clotting indices?
Prolongs clotting indices, especially partial thromboplastin time
What is the significance of a positive test for antiphospholipid antibodies?
Raises clinical suspicion for thrombotic events
What is the recommended dose of low-dose aspirin for patients with antiphospholipid antibodies?
80 mg/day
What may be a potential treatment for lowering antiphospholipid antibody levels?
Antimalarials, such as hydroxychloroquine (200 mg/day)
What is a primary antiphospholipid antibody syndrome?
A condition characterized by clinical thrombotic events and positive tests for anticardiolipin antibodies or lupus anticoagulants without other SLE features
What are some cardiac manifestations of antiphospholipid antibodies?
- Verrucous endocarditis (Libman-Sacks)
- Valvular thickening and contracture
- Coronary vessel thromboses
- Mural thrombi
