Presented by:

Daniella Perez Gutierrez

Presented to :

Gabriel Bermudez

Semiology

Group T04

Medicine Program

Faculty of Basic Health Sciences

Barranquilla

2024-1

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 TEXT ANALYSIS: Elderly patient with insufficiency
cardiac, aortic stenosis and LVEF
preserved... Is it just that?

● Case summary:
A 90-year-old male patient with a history of high blood pressure, type 2 diabetes mellitus,
dyslipidemia, permanent atrial fibrillation, and degenerative aortic valve disease with
moderate degree stenosis.
He presents to the emergency department due to worsening functional class in the last two
weeks, orthopnea, weight gain, and edema in the lower extremities.
He is diagnosed with heart failure with preserved ejection fraction (HFpEF), wild-type
transthyretin cardiac amyloidosis (TTRwt), severe degenerative aortic stenosis, permanent
atrial fibrillation, and chronic kidney disease.
Intravenous depletive treatment is performed and diuretic treatment is optimized.
He progressed favorably and was discharged from the hospital.
● Comments:
Cardiac amyloidosis is an infiltrative disease caused by the deposition of extracellular
proteins.
TTRwt is one of the most common forms of cardiac amyloidosis.
HFpEF is the most common presentation of cardiac amyloidosis due to TTRwt.
● Diagnosing cardiac amyloidosis can be challenging.
Treatment of cardiac amyloidosis includes supportive treatment and specific treatment to try
to stop or delay amyloid deposition.
The prognosis for untreated cardiac amyloidosis is poor.
In this case, the patient has several risk factors for cardiac amyloidosis:
● Advanced age
● Male sex
● Arterial hypertension
● Diabetes mellitus type 2

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 ● Dyslipidemia
● Permanent atrial fibrillation
● Degenerative aortic valve disease

Clinical and laboratory findings suggestive of cardiac amyloidosis include:

● Heart failure
● Pseudoinfarct pattern on electrocardiogram
● Low voltages on the electrocardiogram
● Left ventricular hypertrophy
● atrial dilation
● Pericardial effusion
● Cardiac uptake in 99mTc-DPD scintigraphy
● The diagnosis of cardiac amyloidosis was confirmed by:
● 99mTc-DPD scintigraphy
● Absence of monoclonal component
● The patient's treatment included:
● Supportive treatment for HFpEF
● Intravenous depletive treatment for cardiac amyloidosis
● The patient's prognosis is uncertain, but early treatment of cardiac amyloidosis can
improve survival and quality of life.
Recommendations for the Patient
● Close patient follow-up is important to detect and treat complications of HFpEF and
cardiac amyloidosis.
● Transcatheter aortic valve replacement should be considered if the patient presents
with symptoms of severe aortic stenosis.
● A family study should be performed to detect the presence of hereditary cardiac
amyloidosis in the patient's relatives.
● Answer to the question:

The diagnosis of cardiac amyloidosis was confirmed by:

● 99mTc-DPD scintigraphy
● Absence of monoclonal component

The patient's treatment included:

● Supportive therapy for HFpEF

● Intravenous depletion therapy for cardiac amyloidosis

The patient's prognosis is uncertain, but early treatment of cardiac amyloidosis can
improve survival and quality of life.

Recommendations:

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 ● The patient should be closely monitored for complications of HFpEF and cardiac
amyloidosis.
● Transcatheter aortic valve replacement should be considered if the patient has
symptoms of severe aortic stenosis.
● A family study should be performed to detect the presence of hereditary cardiac
amyloidosis in the patient's family members.

Question: In relation to this clinical case, what would be the reason why the walls
of the ventricle thicken, which generate systolic dysfunction?
In this case, the thickening of the ventricle walls (hypertrophy) and the systolic dysfunction in
the patient with cardiac amyloidosis are caused by the buildup of abnormal proteins called
amyloid fibrils. Here's the breakdown:

● Amyloid fibrils are abnormal protein aggregates that get deposited between heart
muscle cells.
● This deposition stiffens the heart muscle, making it harder for the ventricles to
contract and pump blood effectively.
● As the ventricles struggle to contract, they thicken (hypertrophy) in an attempt to
compensate for the decreased pumping efficiency.
● However, this thickening is ultimately counterproductive because the amyloid
deposits further hinder the muscle's ability to contract forcefully, leading to systolic
dysfunction.

Essentially, the thickening is a sign of the heart trying to adapt to the disease, but the
amyloid buildup prevents it from functioning properly.

Here's an additional point to consider:

● In some cases of cardiac amyloidosis, the thickening may not be uniform throughout
the ventricle. This can lead to a specific appearance on imaging tests called "septal
flash" where the muscular septum (wall) separating the ventricles appears thickened
compared to the outer wall.