HISTORY, CURRENT ILLNESS AND PHYSICAL EXAMINATION

PERSONAL HISTORY
No known drug allergies.
Social background: gypsy ethnicity. Lives with his family. Sporadic work as a street vendor.
No family history of heart disease or sudden death.
Cardiovascular risk factors: no known metabolic diseases. Toxic habits: active smoker of 1 packet of cigarettes per day (cumulative consumption of 20 packs per year).
Sporadic use of cannabis. Denies alcohol or other substance intake.
Previous cardiological history:
Biventricular arrhythmogenic dysplasia with recently diagnosed LMNA gene mutation. Debuts in October 2018 with an episode of congestive heart failure (CHF), showing severe biventricular dysfunction on transthoracic echocardiogram (TTE) and cardiac magnetic resonance (CMR), with left ventricular ejection fraction (LVEF) 23%. A genetic study confirmed arrhythmogenic cardiomyopathy due to mutation in exon 3 of the LMNA gene.
From October 2018 to March 2019, the patient required three hospital admissions for decompensation of CHF. Outpatient follow-up is performed by the advanced heart failure unit, but the patient does not keep medical appointments and has poor compliance with treatment.
Patient with a Medtronic visia SR MRI model single-chamber implantable cardioverter-defibrillator (ICD) for secondary prevention, after several bouts of sustained monomorphic ventricular tachycardia (SMVT) on admission in November 2018
Right atrial appendage thrombus evidenced in CMR performed in November 2018, starting anticoagulation with low molecular weight heparins (LMWH) since then.
Complementary tests performed to date:
TTE: left ventricle (LV) slightly dilated with normal wall thickness. Severe LV hypokinesia of all segments, diffusely. Severely depressed LVEF (23% by biplane Simpson's
Simpson biplane). Normal transmitral filling flow. Dilated right ventricle (RV) with severely depressed function. Slightly displaced LV septum as a sign of right chamber overload. Severe tricuspid insufficiency, with central regurgitation jet due to leaflet coaptation deficit, possibly of functional origin. Estimated pulmonary artery systolic pressure (PSAP) 25-30 mmHg. No other valvulopathies. Inferior vena cava (IVC) dilated, not collapsing on inspiration. No pericardial effusion.
DCM: dilated cardiomyopathy with severe dysfunction of both ventricles and dilatation of both atria. Aneurysmal dilatation and akinesia of the RV outflow tract. Areas of late enhancement in RV free wall and intramyocardial enhancement in lateral and inferior aspects of the LV. Thrombi in the right atrial appendage.
Computed tomography (CT) of coronary arteries: no anomalies in the origin of the coronary arteries or significant lesions in them. Right dominance. Ascending aorta and aortic root of normal size.
Genetic study: carrier of the variant p.Arg190Trp (chr1:156104248, c.568C>T) in exon 3 of the LMNA gene. Variant classified as probably pathogenic according to the criteria of the American College of Genetic Medicine (ACGM).
Other history: haematology follow-up for FV and FVII deficiency, probably related to vitamin K deficiency.
Home medication: bisoprolol 5 mg (1 tablet at breakfast and dinner), enalapril 5 mg (half a tablet at dinner), eplerenone 50 mg (1 tablet at lunch), furosemide 40 mg (1 tablet at breakfast), enoxaparin 60 mg (1 subcutaneous injection every 12 hours)

CURRENT ILLNESS
Patient attended the hospital emergency department in the early hours of the morning accompanying her mother, who presented with febrile syndrome probably related to respiratory infection. While in the waiting room, she suddenly lost consciousness with loss of postural tone. On first medical contact (very early due to the patient's location), a pulse and spontaneous breathing were observed, but with a low level of consciousness; the patient was monitored and sustained ventricular tachycardia was observed, with several appropriate ICD shocks without achieving reversion to sinus rhythm, and degeneration of SMVT to ventricular fibrillation with effective shock, with subsequent reversion to sinus rhythm and recovery of the pulse. Following loss of pulse in sinus rhythm with electromechanical dissociation, advanced cardiopulmonary resuscitation manoeuvres were initiated for 18 minutes, including 3 ampoules of adrenaline, orotracheal intubation and initiation of invasive mechanical ventilation. Pulse recovery was achieved, but the patient remained in cardiogenic shock and required very high doses of vasoactive drugs.

PHYSICAL EXAMINATION
Blood pressure (BP) 60/38 mmHg, heart rate (HR) 75 bpm. Afebrile.
Orotracheal intubation. Sedoanalgesia. Poorly perfused, with generalised lividity.
Weak peripheral pulses, with slow capillary refill. Jugular venous pressure elevated.
Cardiac auscultation: rhythmic, no audible murmurs.
Pulmonary auscultation: crackles up to bilateral midfields.
Abdomen: soft, depressible, no masses or megaliths palpable. Hydro-aerial sounds present.
Lower extremities: oedema with fovea in both pretibial regions. Pedial pulses not palpable.

COMPLEMENTARY TESTS
Laboratory tests:
CBC: haemoglobin 15.2 g/dl, red cells 5.17 x10E6/μl, MCV 88.6 fl, MCH 29.4 pg, MCHC 33.2 g/dl, leucocytes 10.39 x10E3/μl, neutrophils (blood-%) 75.3%, neutrophils 7.83 x10E3/μl, lymphocytes (%) 20.9%, lymphocytes 2.17 x10E3/μl, monocytes (blood-%) 2.0%, monocytes 0.21 x10E3/μl, eosinophils (blood-%) 1.3%, basophils (blood-%) 0.5%, immature granulocytes % 5.20%, immature granulocytes # 0.54 x10E3/μl, platelets UPLAQ 191 x10E3/μl, VPM 10.9 fl. SR RDW coefficient of variation 15.2%, haematocrit 45.8%.
Biochemistry: glucose 117 mg/dl, urea 37 mg/dl, creatinine 1.80 mg/d, sodium ion 138 mmol/l, plasma potassium ion 3.1 mmol/l, creatinine kinase 720 U/l, troponin T US 23 ng/dl, C-reactive protein 1.5 mg/dl.
Coagulation: prothrombin time 17.10 seconds, prothrombin time (ratio) 1.53, prothrombin time (%) 54%. Partial thromboplastin time 30.60 seconds, derived fibrinogen 308, INR 1.53.
Arterial blood gases: pH 7.30, pCO2 40 mmHg, pO2 95 mmHg, lactic acid 14.7 mmmol/l, EB -6.9 mmol/l, bicarbonate 19.4 mmol/l.
Electrocardiogram (ECG) on admission: sustained monomorphic ventricular tachycardia with left bundle branch block morphology, inferior axis and transition in V3-V4.
ECG after initial stabilisation: sinus rhythm at 72 bpm. Normal PR interval. Right bundle branch block with secondary repolarisation abnormalities.
QTc interval 450 ms by Bazett formula.
Chest X-ray: portable, anterior-posterior (AP) projection.
Increased cardiothoracic index. Bilateral vascular redistribution. Normopositioned single-chamber ICD. No obliteration of costophrenic sinuses.

CLINICAL EVOLUTION
The patient was admitted to the intensive care unit (ICU) in refractory cardiogenic shock after arrhythmic storm, with haemodynamic instability despite infusion of vasoactive drugs at very high doses, and electrical instability, with repeated episodes of SMVT and VF, which were controlled after perfusion of procainamide and sedoanalgesia with propofol.
Subsequent evolution is poor. Neurologically with poor prognostic data: mydriatic pupils, isochoric arreactive. Absence of trunk reflexes. No response to stimulus.
Haemodynamically in VVI pacemaker rhythm accelerated to 85 bpm, with procainamide in continuous perfusion, in maintained shock situation with NA at 1.6 mcg/kg/min. Cold. Poor general perfusion with hyperlactacidemia and metabolic acidosis maintained, evolving towards a situation of multi-organ dysfunction with oligoanuric renal failure and liver failure with hypoglycaemia and marked coagulopathy with PT of 28%.
In our patient, extracorporeal membrane oxygenation (ECMO) was considered as a bridge to ablation or transplantation. However, the patient had a contraindication to heart transplantation at the time of admission, given his lack of adherence to treatment and previous check-ups. In addition, in a situation of refractory shock, multi-organ failure and a bleak neurological prognosis, it was decided, in agreement with the different units responsible, not to escalate treatment.
Finally, he presented marked haemodynamic deterioration and died 24 hours after admission.


DIAGNOSIS
Arrhythmic storm in a patient with arrhythmogenic cardiomyopathy with LMNA gene mutation and severe biventricular dysfunction.
Refractory cardiogenic shock secondary to arrhythmic storm.
Postanoxic diffuse encephalopathy.
Multi-organ failure.
Death.
