Байкальский медицинский журнал (Sep 2023)
HEREDITARY TRANSTERETIN AMYLOIDOSIS. CLINICAL CASE
Abstract
Introduction. To date, 36 types of amyloidosis are known, the most common types associated with heart damage are: light chain amyloidosis (AL), transthyretin amyloidosis and AA amyloidosis. Transthyretin amyloidosis (ATTR) is a fatal progressive disease caused by extracellular deposition of an abnormal monomer of the transthyretin protein. There are two forms: hereditary and senile systemic.Clinical case. A clinical case of patient A., aged 65, with hereditary familial transthyretin amyloidosis without neuropathy is presented. From the anamnesis, he periodically noted an increase in blood pressure to maximum values of 145/90 mm Hg, he did not regularly take antihypertensive drugs. Deterioration since 2021, when he first noted the appearance of complaints of shortness of breath during everyday physical activity, swelling of the lower extremities, weight gain by 7 kg in 2 weeks. Repeatedly underwent treatment in a hospital at the place of residence in connection with decompensated heart failure. Examination by echocardiography (ECHOCG) revealed hypertrophy of the walls of the left ventricle, intact left ventricular ejection fraction (LVEF). In 2023, the cardiologist of the Irkutsk Regional Order of the Badge of Honor Clinical Hospital was routinely examined.According to the electrocardiogram (ECG), heart attack-like changes in the QRS complex. In the anamnesis, there were no reliable data for myocardial infarction. In the dynamics of ECHOCG, it was revealed: a decrease in LVEF according to Simpson up to 41%; an increase in hypertrophy of the walls of the left and right ventricles, papillary muscles, the appearance of hypokinesis of the walls of the left ventricle; increased calculated pressure in the right ventricle. Dilatation of the right heart. Coronary angiography revealed no stenotic lesions of the coronary arteries.Based on the presence of severe hypertrophy of the myocardium of both ventricles, which does not correspond to the severity of arterial hypertension, as well as the discrepancy between the thickness of the walls of the left ventricle and the QRS voltage on the ECG; a decrease in myocardial contractility in the absence of evidence of significant myocardial damage, a probable cardiac amyloidosis was suggested.Natriuretic peptide, cardiospecific markers are elevated. According to computed tomography in the parenchyma of both lungs, mainly in the lower lobes, multiple small rounded foci, up to 2-5-7 mm in size, are visualized. Mediastinal lymph nodes are not enlarged. Information on the frequency of lung damage in amyloidosis is currently not available. Lung involvement in transtriretin amyloidosis is mainly detected only by autopsy findings.In order to exclude AL-amyloidosis, a biopsy of the rectum was performed. Monoclonal gammopathy was not found. According to single-photon emission computed tomography with 99m Tc-pyrophosphate in the projection of the heart, there is an increased accumulation of the radiopharmaceutical (RP) in the myocardium of the left and right ventricles. Evaluation of the intensity of accumulation of radiopharmaceuticals in the myocardium according to the Perugini - Grade 3 scale, the coefficient of differential accumulation of the heart / contralateral zone is 1.6, which is characteristic of ATTR-amyloidosis. In connection with obtaining data sufficient to make a diagnosis, it was decided to refrain from performing endomyocardial biopsy.The patient underwent a confirmatory molecular genetic study. In exon 3 of the TTR gene, the pathogenic variant c.302C>T (p.(Ala101Val) is in the heterozygous state. A comprehensive examination did not reveal any data for neuropathy.Thus, transthyretin amyloidosis of the heart was verified in the patient. As a basic therapy, the drug tafamidis is recommended at a dose of 61 mg 1 time per day.Conclusion. Given the high lethality of the disease and the availability of modern treatment options, there is an obvious need to increase the awareness and alertness of doctors of various specialties regarding this pathology.
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