HISTORY, CURRENT ILLNESS AND PHYSICAL EXAMINATION

Personal history
19-year-old patient with a history of Friedreich's ataxia under follow-up by Neurology. The patient is wheelchair-bound and partially dependent for basic activities of daily living. Non-obstructive hypertrophic cardiomyopathy. Patient with usual NYHA functional class I. On medical treatment with enalapril 5 mg every 24 hours. The last echocardiogram performed in November 2016 showed: left ventricle (LV) of normal dimensions with LVEF 72%. Severe LVH with no obstruction. Normal right chambers. Normal aortic and mitral valve. Restrictive diastolic pattern.


Current illness
The patient was admitted to a regional hospital for presenting in the last 5 days with a general malaise associated with repeated nausea and vomiting. No fever was reported. Oral rehydration and antiemetic treatment was started without improvement. Subsequently, she developed hyporexia with minimal food intake, generalised weakness and a severe dry cough. On arrival at the regional hospital, the patient reported abdominal pain that was difficult to locate and an electrocardiogram was performed showing signs of left ventricular hypertrophy with secondary repolarisation alterations and blood tests showed elevated markers of cardiac necrosis. With this finding, the patient was transferred to our hospital for urgent assessment by Cardiology. In our first assessment, the patient was in poor general condition, with a difficult anamnesis due to lack of cooperation. He reported no chest pain, only cough and abdominal discomfort. At rest the patient had slight dyspnoea, with no increase in the work of breathing.

Physical examination
Vital signs: BP 93/56, HR 125 bpm, O2 saturation 97% with FIO2 of 24%, Temperature 36.5°C. Patient conscious and oriented. Neurological examination limited by underlying disease and by the patient being in dorsal decubitus, however, no changes with respect to previous state, no focality. Neck without jugular ingurgitation. Pulmonary auscultation with hypoventilation and crackles at the base of the lung fields. Cardiac auscultation: rhythmic sounds, third heart tone, no pericardial friction. Abdomen soft, slightly painful on palpation. Hepatomegaly of 2 cm below the right costal margin is palpated. Lower extremities without oedema or signs of thrombosis.

COMPLEMENTARY TESTS
Blood tests: biochemistry: glucose 75 mg/dl. Urea 29 mg/dl. Creatinine 0.73 mg/dl. Sodium 136 mEq/l. Potassium 4,4 mEq/l. Total bilirubin 4,86. Direct bilirubin 0,82. Normal liver profile. CRP 6.24. Procalcitonin 0.10. Troponin I 0.4 ng/ml (0.02-0.04). Myoglobin 31,8. ProBNP 2523 pg/dl. LDH 470. Normal reticulocytes. Haptoglobin normal. EAB pH 7.44, PCO2 36 mmHg. HCO3 24.4. Haemogram: leucocytes 10,500 with 71 % neutrophils, haemoglobin 16.3 g/dl, haematocrit 48 %. Haemostasis INR 1.46, prothrombin activity 63 %. Electrocardiogram (ECG) in the ED: sinus rhythm at 100 bpm. Signs of LVH with secondary alterations of reporalisation. No changes with respect to previous ones. Chest X-ray: cardiomegaly, signs of pulmonary vascular congestion. No consolidative foci. Abdominal ultrasound: enlarged liver with increased hyperrenfraction. Dilatation of suprahepatic veins and inferior vena cava system. No focal lesions were identified. Gallbladder without lithiasis. No dilatation of the bile duct. Portion of the pancreas visualised without alterations. Spleen of normal size. Abdominal aorta of normal calibre. Kidneys with good corticomedullary differentiation. No excretory tract ectasia. No intraperitoneal free fluid is observed. Emergency transthoracic echocardiogram: LV of normal size. Severe LVH, with maximum IVS thickness of 29 mm at mid level, with hyper-refringent appearance. No obstructive gradient. Global LV systolic function severely depressed, global hypocontractility with LVEF around 29% by Teihzold method. Right ventricle of normal size, severely hypocontractile (TAPSE 8 mm). Mitral valve with normal opening, mild reflux. Aortic valve with normal structure, mild insufficiency. Moderate tricuspid insufficiency with RV/AD gradient of 20 mmHg. Dilated inferior vena cava (IVC), diameter 24 mm, without inspiratory collapse, dilated suprahepatic veins, signs of hepatic congestion. PAPS 40 mmHg. Conclusions: Severe HCM. Severe biventricular systolic dysfunction. Mild PHT. Footnotes to image/video.

EVOLUTION
The patient presented in the ED in poor general condition with clinical symptoms of congestive heart failure predominantly on the right with evidence of hepatic congestion on abdominal ultrasound findings and alteration of liver markers in AS. A transthoracic echocardiogram was performed in the emergency department showing severe biventricular systolic dysfunction not present in previous studies. There was also evidence of hyperreflective myocardial thickening. On suspicion of acute myocarditis with severe biventricular systolic dysfunction, treatment was started with intravenous diuretics associated with dobutamine and the patient was admitted to the Intensive Care Unit. The patient presented progressive deterioration with signs of cardiogenic shock despite the prescribed treatment. Continuous diuretic and inotropic perfusion was maintained and intravenous corticosteroids were started. No endomyocardial biopsy or cardiac MRI was performed at this time as they were not available urgently in our centre. Control echocardiography was performed at the bedside, showing severe biventricular failure with LVEF estimated at 15% and severe PHT. Given that the patient persisted with cardiogenic shock, aortic balloon counterpulsation (CABG) was implanted without improvement. The case was discussed with the Heart Failure Unit and was rejected for cardiac transplantation due to severe neurological disease, and ECMO implantation was decided as a bridge to possible recovery. The patient presented with ischaemia in the left lower limb and hypoperfusion of the right limb secondary to BACP implantation. While waiting for ECMO implantation, the patient had a torpid evolution with cardiogenic shock and multiorgan failure with anuria and severe lactic acidosis that prevented intervention, presenting cardiac arrest due to asystole without recovery of spontaneous circulation despite advanced CPR. Exit due to fulminant myocarditis with refractory cardiogenic shock was certified.

DIAGNOSIS
Fulminant myocarditis. Cardiogenic shock. Non-obstructive hypertrophic cardiomyopathy. Friedreich's ataxia.
