HISTORY, CURRENT ILLNESS AND PHYSICAL EXAMINATION
A 67-year-old man attended a Cardiology consultation due to worsening dyspnoea.
Cardiovascular risk factors: Ex-smoker (20 packs/year) and hypertensive under treatment.
Cardiological history: left bundle branch block as an incidental finding in a routine electrocardiogram; diagnosis of hypertensive heart disease with moderate LV hypertrophy and mild systolic dysfunction in the echocardiogram. The Holter study was completed and showed frequent ventricular extrasystoles (asymptomatic).
Medical treatment: nevibolol 5 mg, torasemide 5 mg and amlodipine/valsartan 5/160 mg once daily.
Current history: previously in NYHA functional class I, he consulted Cardiology for worsening of his dyspnoea of one year's evolution, to the point of moderate exertion. He denied syncope, palpitations or other symptoms.
Physical examination showed no relevant findings. Head and neck with no increase in jugular venous pressure or carotid murmurs. Rhythmic cardiac auscultation with abundant extrasystoles, but no murmurs. Pulmonary auscultation showed decreased generalised vesicular murmur, with no other superimposed sounds. The abdomen was globular with no masses or megaliths and the lower limbs were free of oedema and there was no evidence of deep vein thrombosis.

COMPLEMENTARY TESTS
ECG: sinus rhythm at 60 bpm, normal PR, left bundle branch block (QRS of 150 ms).
Holter: sinus rhythm throughout the recording. Monomorphic ventricular extrasystoles of slight-moderate density, with some triplets. Occasional supraventricular extrasystoles with isolated episodes of supraventricular tachycardia. No pauses.
Echocardiogram, new study: non-dilated left ventricle, with moderate septal hypertrophy (1.5 cm) and alterations in segmental contractility: basal hypokinesia of the inferior, anterior, anteroseptal and anterolateral faces, with anomalous septal movement. Mild systolic dysfunction (LVEF 45%). Grade II diastolic dysfunction, with pseudonormal pattern. Normal right ventricle. Slightly dilated atria (LA 25 and RA 21 cm2). Minimal aortic insufficiency, without other valvulopathies.
Cardiac MRI: left ventricle slightly dilated, with moderate to severe concentric increase in wall thickness, maximum thickness measured in the inferior septum of the middle segment of 22 mm. Significant increase in myocardial mass (116 gr/m2), global hypokinesia and moderate systolic dysfunction (LVEF 37%). Right ventricle neither dilated nor hypertrophied with normal function (RVEF 59%). Moderately dilated left atrium with thickening of the interatrial septum in its most caudal area. Absence of pericardial and pleural effusion. Late enhancement sequences show a diffuse uptake pattern, with greater intensity in the subendocardium in the middle segments of the lateral and inferolateral face, diffuse intramyocardial uptake of the basal and middle septum and at the level of the posterior septum at the insertion of the free wall. There is also subepicardial enhancement in the free wall of the right ventricular outflow tract. The wall of both atria shows diffuse uptake, as well as the interatrial septum, mitral valve and aortic wall. On the STIR sequence, no oedema is seen. The T2 sequence shows no evidence of iron overload.
Salivary gland biopsy: no amyloid deposition.
99mTc-DDP scan: myocardial deposition of the radiotracer, indicative of cardiac amyloidosis.
Endomyocardial biopsy: (sampling from 2 different sites in the right ventricle) positive deposit of amyloid substance transthyretin (TTR).
Genetic study: (NGS sequencing 17 genes panel, including TTR): negative.

EVOLUTION
Patient known to Cardiology with a previous diagnosis of hypertensive heart disease.
After worsening of his CF, the echocardiogram was repeated, revealing significant LV hypertrophy, diastolic dysfunction with pseudonormal pattern and data of increased end-diastolic pressures. With the suspicion of infiltrative cardiomyopathy, cardiac magnetic resonance imaging was requested, which showed findings highly suggestive of cardiac amyloidosis.
The patient was studied by quantification of immunoglobulins, electrophoresis and immunofixation of proteins and 24-hour urine study, ruling out multiple myeloma.
Bone scintigraphy 99 mTc-DDP was also requested, with cardiac uptake of the radiotracer, compatible with senile and/or hereditary amyloidosis due to TTR deposition. The precise diagnosis was made by endomyocardial biopsy, which showed TTR deposition. Finally, genetic testing was performed to discern between hereditary and senile amyloidosis. Once the latter was diagnosed, it was not necessary to study the patient's relatives. The patient was managed conservatively, with treatment aimed at systolic dysfunction, diuretics and antihypertensive drugs, with a good clinical response after 2 years of follow-up.

DIAGNOSIS
Cardiac amyloidosis due to transthyretin deposition. Senile type.
Moderate systolic and diastolic dysfunction of vi. Compensated heart failure in NYHA functional class I after medication.
Asymptomatic ventricular arrhythmias, ventricular extrasystoles of mild to moderate intensity.
