HISTORY, CURRENT ILLNESS AND PHYSICAL EXAMINATION

PERSONAL HISTORY
No known drug allergies.
Cardiovascular risk factors (CVRF): arterial hypertension (AHT), dyslipidaemia, hyperuricaemia (untreated), ex-smoker.
Cardiological history: rheumatic aortic insufficiency.
Other history: haemochromatosis (described mutation: double heterozygous, C282YH63D), glaucoma.
Surgical interventions: hydatid cyst operated on in 1969.
Usual treatment: nevibolol/hydrochlorothiazide 5/25 (1-0-1), acetylsalicylic acid 100 (0-1-0), ezetimibe 10 (0-0-1), latanoprost eye drops 50/2.5.

CURRENT DISEASE
Asymptomatic until three months prior to admission, when he began with moderate exertion dyspnoea, which progressively became minimal exertion dyspnoea in the last 15 days, accompanied by orthopnoea and nocturnal cough. No subjective sensation of increased abdominal perimeter, oedema in the limbs or decreased diuresis. No clinical signs of angina, palpitations or infectious symptoms. The only other clinical manifestations were nocturnal paresthesia in both upper limbs, more noticeable in the right upper limb.

PHYSICAL EXAMINATION
Blood pressure (BP) 152/82. Heart rate (HR) 86 bpm. Afebrile. Basal saturation 98%. Increased central venous pressure (CVP).
Cardiac auscultation: rhythmic heart sounds. Diastolic murmur in aortic focus II/IV radiating to mitral focus.
Pulmonary auscultation: global hypoventilation with wheezing in the left hemithorax and abolition of vesicular murmur in the right base.
Abdomen: scar in the right hypochondrium. Soft, depressible, non-painful.
Hepatomegaly of 2 cm.
Lower extremities: peripheral pulses preserved. Edema with bilateral pitting up to the knee.

COMPLEMENTARY TESTS
Electrocardiogram (ECG): sinus rhythm at 88 bpm. PR 170 ms. Narrow QRS with BIRDHH morphology. Presence of QS in inferior face.
Chest X-ray: Cardiothoracic index (CTI) borderline. Vascular redistribution with bilateral pleural effusion, greater in the right lung.
CBC: CBC: 8,300 leukocytes mm/c, Hb 18.3 g/dl, 226,000 platelets.
Coagulation: PT 100%, INR 1, TTPa 28.2%. Biochemistry: glucose 84 mg/dl, urea 69 mg/dl, creatinine 1.57 mg/dl, FG 43 ml/min, uric acid 7.16 mg/dl, GOT 41 U/l, GPT 55 U/l, alkaline phosphatase 64 U/l, GGT 230 U/l, total cholesterol 195 mg/dl, LDL cholesterol 131 mg/dl, HDL cholesterol 50 mg/dl, triglycerides 74 mg/dl, iron 106 mcg/dl, transferrin 181 mcg/dl, TSI 59%, ferritin 247 ng/dl, vitamin B12 948 pg/ml, folic acid 13.50 nmol/l, sodium 140 mEq/l, potassium 4.7 mEq/l, thyroid hormones normal. HbA1C 6%. Serum immunoglobulins: kappa chains 33.9 mg/ml, lambda chains 17.6 mg/ml, kappa-lambda ratio 1.93 (normal 0.26-2). Urine protein study: normal. NT-proBNP 18367 pg/ml.
Transthoracic echocardiogram: hypertrophic left ventricle (LV) with IVS of 15 mm, mottling inside and segmental abnormalities of apical contractility. Left ventricular ejection fraction (LVEF) 40%. Longitudinal Strain of -8%. Right ventricle (RV) of normal size and function (TAPSE 19 mm). Mild left atrial dilatation. Tricuspid aortic valve with fibrous leaflets and severe insufficiency. Mild tricuspid insufficiency (TI), with no evidence of PHT at rest.
Cardiac magnetic resonance (CMR): LV of normal size (45 mm) with myocardial thickening, the greatest thicknesses being as follows: mid anterior septum 16 mm, mid inferior septum 11 mm, apical septum 12 mm, apical postero-inferior wall: 10 mm. LVEF 37%. VTD-VI 134 ml (85 ml/m2), VTS-VI 84 ml (50 ml/m2), VL-VI 50 ml (32 ml/m2). RV of normal size (33 mm) with mild dysfunction due to altered longitudinal and radial contractility (the latter to a lesser extent). No perfusion defects are observed. The myocardial signal is not cancelled, identifying a late intramyocardial enhancement, patchy and diffuse throughout the myocardium of the left ventricle, also in the right ventricle with enhancement of the wall of both atria. Normal right atrium (RA) (17 cm2). Dilated left atrium (LA) (27 cm2). Trivalve aortic valve with sclerosed leaflets and slightly reduced opening. Flow turbulence in relation to aortic insufficiency (AIo). Conclusion: the findings described are compatible with clinical suspicion of cardiac amyloidosis.
Myocardial scintigraphy: images of the chest were obtained in anterior and posterior projections. Radiopharmaceutical uptake was observed in the cardiac muscle, a finding compatible with amyloidosis due to transthyretin deposits.
Electromyogram: the neurophysiological study showed data compatible with bilateral carpal tunnel syndrome of moderate intensity and predominantly on the right.


CLINICAL EVOLUTION
During his stay on the hospital ward, the patient responded favourably to depletive treatment with diuretics, mainly loop diuretics. He also receives treatment with mineralcorticoid receptor inhibitors, which must be adjusted due to the impairment of renal function, which is detrimentally affected by the contrast used in the various diagnostic tests.
As an incidence during hospitalisation, the patient presents multiple bouts of non-sustained monomorphic ventricular tachycardia (NSMVT) on telemetry, requiring treatment with beta-blockers at low doses despite being in heart failure, due to the problems caused by the use of other antiarrhythmic drugs in amyloidosis.
Although the patient presents segmental contractility alterations in the transthoracic echocardiogram and multiple cardiovascular risk factors, due to renal impairment and low clinical suspicion, diagnostic catheterisation to rule out ischaemic involvement is discouraged.
Due to the patient's neurological symptoms, it was decided to perform an electromyogram which confirmed bilateral carpal tunnel syndrome and a referral was made to neurology, who recommended further study on an outpatient basis due to possible polyneuropathy.
With regard to the progression of aortic insufficiency, surgical treatment was ruled out as the symptoms of dyspnoea were mainly due to the deposition disease (predominantly right), the LVEF was normal and there was no left ventricular dilatation, so there was no indication for valve replacement and outpatient follow-up was considered appropriate.
On discharge, the patient was referred to a family heart disease consultation and to a neurology consultation following electromyography of the lower limbs.

DIAGNOSIS
Heart failure (first episode).
Amyloidosis due to transthyretin (pending completion of filiation).
Severe aortic insufficiency.
Moderately depressed LVEF.
Bilateral carpal tunnel syndrome.
Chronic renal failure, stage 3A.
Possible peripheral polyneuropathy.
