HISTORY, CURRENT ILLNESS AND PHYSICAL EXAMINATION

BACKGROUND:
Subclinical hypothyroidism and migraine with aura, as well as family history (aunt) with heart disease at an early age who does not know how to specify and sister with Hodgkin's lymphoma.
Cardiovascular risk factors: absent
Usual treatment: none

CURRENT ILLNESS:
19-year-old female basketball player, presenting to the ED on 11/11/2016 for 5 days of exertional dyspnoea (New York Heart Association [NYHA] functional class II), with previous normal functional class (athlete), orthopnoea and episodes of paroxysmal nocturnal dyspnoea (PND), together with prick-like chest discomfort and self-limited palpitations, unrelated to courtship or exertion. He denies syncope, palpitations or other symptoms.

PHYSICAL EXAMINATION:
Physical examination in the emergency department: constants: heart rate (HR): 87 bpm. Temperature: 34.5 °C. Blood pressure (BP): 124/60. Oxygen saturation (SatO2) 100%.
Impression of good general condition. Conscious, oriented, cooperative and attentive.
Normohydrated, normoperfused, normo coloured. No increase in central venous pressure (CVP).
Pulmonary auscultation: good bilateral and symmetrical air entry. Auscultation of the lungs: good bilateral and symmetrical air inflow, no other added sounds. No work of breathing or signs of respiratory distress. Cardiac auscultation: rhythmic, left parasternal diastolic murmur IV/VI.
Abdomen: soft, depressible. Not painful on palpation. No masses or megaliths palpable.
Murphy, Blumberg and Rovsing negative. No signs of peritoneal irritation. Upper limbs: distal pulses preserved and symmetrical. Lower limbs: distal coldness, no oedema, no signs of deep vein thrombosis (DVT). Pedial pulses were preserved and symmetrical.
An echocardiogram was performed in the emergency department showing dilatation of the aortic root and ascending aorta and severe aortic insufficiency, with dilatation of the left ventricle (LV) and moderate-severe systolic dysfunction. In view of these findings, it was decided to admit the patient to cardiology to study and optimise treatment.

COMPLEMENTARY TESTS
ELECTROCARDIOGRAM (ECG): sinus rhythm at 69 bpm, normal PR, normal axis, left bundle branch block, evidence of LV enlargement and secondary repolarisation disorder (asymmetrical negative T waves in lateral and inferior face).
THORAX RADIOGRAPHY: cardiomegaly and data of CHF.
ANALYSIS: amino-terminal pro-brain natriuretic peptide (NT-ProBNP) of 4860 pg/ml, lactate 1.2 mmol/l, no increase in acute phase reactants or markers of myocardial damage, normal haemogram and biochemistry. Autoimmunity was negative, except for antithyroglobulin antibodies 329 IU/ml (10-115), with normal thyroid profile.
Transthoracic echocardiogram (TTE) pre-surgery (15/11/2016): severely dilated LV (DD 89 mm, SD 74 mm; LVEDVT 357 ml), SD 74 mm; LVEDVT 357 ml).
Global hypokinesia. Left ventricular ejection fraction (LVEF) by Simpson biplane: 42%. Normal mitral filling. Trivalve aortic valve with normal opening. Dilatation at the level of the sinuses with asymmetry of the leaflets: greater development of the right coronary artery (RCA) with the non-coronary artery (NC) being the least developed. Distance to the coaptation point: CD 38 mm, CI 30 mm, NC 25 mm. Maximum diameters at the level of the sinuses: CD-commissure sinus 67 mm; NC-IC sinus 67 mm. Severe aortic insufficiency with eccentric jet directed towards the anterior mitral leaflet secondary to mixed mechanism: asymmetric leaflet dilatation and central coaptation defect. Aortic annulus diameter 28 mm. Erased sinotubular junction. Distal ascending, arch and descending aorta of normal calibre (26 mm, 24 mm and 18 mm, respectively). Mitral valve with ballooning of the anterior leaflet towards the left atrium. Mild mitral insufficiency. Non-dilated right ventricle with normal ejection fraction. Non-dilated atria.
ANGIO-CT aorta with intravenous contrast (21/11/16): Trivalve aortic valve.
Dilatation at the level of the coronary sinuses with asymmetry of the leaflets, with greater development of the CD sinus. Distance to the coaptation point: CD 38.6 mm, CI 35.3 mm, NC 36 mm. Diameters at sinus level: CD-commissure sinus 66 mm; NC-commissure sinus 66 mm, CI-commissure sinus 66 mm. Sinus-sinus diameters: NC-CI sinus 65.1 mm; CI-CD sinus 61.8 mm; CD-NC sinus 65.7 mm. Maximum diameter of ascending aorta measured at 4 cm from the valvular plane: 80 x 81 mm. Aortic arch diameter: 31 x 29 mm. Diameter of descending aorta at the level of the pulmonary artery bifurcation: 31 x 29 mm. Diameter of the descending aorta at the level of the diaphragm: 25 x 20 mm. Diameter of the suprarenal abdominal aorta: 25 x 21 mm. Infrarenal abdominal aorta diameter: 20 mm. Severely dilated left ventricle. Abdominal study without significant findings, except for findings compatible with dural ectasia/ arachnoid cysts in the sacrum. Conclusion: dilatation of aortic root and ascending aorta. Aortic sagging, descending thoracic aorta and abdominal aorta of normal calibre.
CARDIAC MAGNETIC RESONANCE (MRI): Signs of dural ectasia, with no apparent evidence of lumbosacral radicular involvement. Anterior sacral arachnoid cysts (meningoceles).
INTERCONSULTATION WITH OPHTHALMOLOGY: Biomicroscopy AO cornea normal, crystalline lens clear and well.
Post-surgical TTE (02/12/2016): severely dilated left ventricle (VolTD LV 308 ml; DTDVI 77 mm), with preserved parietal thicknesses. Global severe hypokinesia.
Severely depressed systolic function (LVEF by Simpson biplane: 29%). Restrictive mitral filling pattern. Non-dilated right ventricle with mild systolic dysfunction. Aortic valve with post-surgical changes in leaflets, preserved mobility. There is a jet of mild aortic insufficiency. No outflow stenosis (G. Max 12 mmHg). Both tubular prostheses are visualised, normoexpanded, with laminar flows inside without any leakage. Union with the aortic arch without significant findings. Morphologically normal descending thoracic and abdominal aorta without flow alterations. Mitral valve with elongated anterior leaflet, preserved mobility, with minimal protosystolic insufficiency. Tricuspid valve of normal appearance, with mild protosystolic insufficiency allowing estimation of pulmonary systolic pressure (PSP) of 25 mmHg. Dilated inferior vena cava (28 mm) with 50% inspiratory collapse. Slight lateral pericardial effusion 7 mm. Postoperative hyperechogenic changes were observed at the aortic valve and tubular prosthesis level.
TTE (March 2017): dilated LV (LVEDV 142 ml) not hypertrophic. Moderately depressed systolic function (44% Simpson biplane). Abnormal septal motion. Basal inferior hypokinesia.
Impaired relaxation. Right ventricle (RV) not dilated, normal systolic function. Left atrium slightly dilated, right atrium not dilated. Aortic plasty (David technique), thin leaflets, good opening (max gradient 5 mmHg/average gradient 2mmHg). Mildly moderate II/IV insufficiency (jet reaches anterior mitral leaflet). Mitral valve elongated anterior leaflet, minimal insufficiency. Tricuspid valve good opening, mild insufficiency, does not allow estimation of pulmonary artery systolic pressure (PSAP). Normal pulmonary acceleration time. Normoexpanded tubular prosthesis. Inferior vena cava not dilated, adequate inspiratory collapse. No pericardial effusion.

CLINICAL EVOLUTION
In the cardiology ward he evolved favourably after starting treatment for heart failure (furosemide, ramipril, bisoprolol), remaining haemodynamically stable.
A TTE study was completed, showing trivalve aortic valve with aneurysmal dilatation of the sinuses of Valsalva, severe aortic insufficiency, severely dilated LV with moderate systolic dysfunction (estimated LVEF 42%); CT angiography of the aorta showed dilatation of the aortic root and ascending aorta, with aortic arch, descending thoracic aorta and abdominal aorta of normal calibre.
For the aetiological study, autoimmunity was requested, which was negative, ruling out the possibility of vasculitis of large vessels (Takayasu). Likewise, in the presence of tall stature, long upper limbs, joint laxity, etc., with the suspicion of connective tissue.with the suspicion of connective tissue disease, tests were requested in search of this diagnosis, especially Marfan syndrome: acetabular X-ray without protrusion, sacral MRI which showed dural ectasia at lumbar and sacral level, ophthalmology consultation which ruled out ectopia lentis, presenting myopia; and even genetic study which remained pending on discharge (being subsequently confirmed with pathogenic mutation in the gene fibrillin 1 -FBN1- c.3656A>G [p.Tyr1219Cys]).
In relation to the management of aneurysmal dilatation of the aortic root and ascending aorta with secondary aortic insufficiency, the case was discussed with cardiac surgery and the patient underwent surgery on 28/11/16. The aneurysm of the root and ascending aorta was resected and a Hemashield Platinum tubular prosthesis No 28 and No 34 with valve preservation according to David's technique (Miller's modification), as well as aortic valve plasty.
Subsequent good evolution in the intensive care unit where she remained for two days, being discharged on the eleventh postoperative day with echocardiography at discharge showing well expanded tubular prostheses in the ascending aorta without alterations, severely dilated LV, severe systolic and diastolic dysfunction (LVEF 29%), aortic valve with postoperative changes and mild insufficiency, mild mitral insufficiency and mild pericardial effusion.
During outpatient follow-up, she remained cardiovascular asymptomatic, functional class I, with upward titration of angiotensin-converting enzyme inhibitor (ACE) and beta-blocker doses and improvement in LV function to LVEF 44% (see echocardiogram March 2017).

DIAGNOSIS
MFS: carrier of pathogenic mutation in FBN1 (p.tyr1219cys).
Aneurysm of ascending aorta and secondary severe aortic insufficiency. David's plasty and aortic tube.
Secondary left ventricular dilatation and systolic dysfunction, severe at discharge, currently moderate (LVEF 44%) with NYHA functional class I.
