We present the case of a middle-aged patient with hypertrophic sarcomeric cardiomyopathy, with symptomatic left ventricular outflow tract obstruction, in whom alcohol septal ablation is proposed as a therapeutic option.

HISTORY, CURRENT DISEASE AND PHYSICAL EXAMINATION

Personal history
No known adverse drug reactions.
No family history of interest in relation to his heart disease. Maternal aunt with a history of arterial hypertension and moderate parietal thickening of the left ventricle, deceased at 92 years of age. No history of sudden death in the family. Healthy parents, siblings and children.
Smoker of 5 cigarettes/day. Consumption of 1 litre/day of beer.
Arterial hypertension, altered basal glycaemia and recently diagnosed hypercholesterolemia.
Antral ulcus in 2005.
Tension headaches studied in Neurology.
Treatment: enalapril/hydrochlorothiazide 20/12.5 mg at breakfast.

Present illness
A 48-year-old female patient, who began with sudden onset symptoms of palpitations, associated with a sensation of dyspnoea and chest tightness radiating to the throat, as well as cold sweat and blurred vision, attended the emergency department of her medical centre where she was documented, without any electrocardiographic record provided, a regular QRS tachycardia at 200 bpm, with a retrograde P wave inscribed in the terminal portion of the QRS, and she was referred to the Emergency Department of our hospital where she arrived in sinus rhythm at 100 bpm, and was discharged. From that day on, high blood pressure levels were detected, and she was started on the antihypertensive treatment indicated above. Apart from this episode, the patient reported worsening functional class with dyspnoea until minimal effort (NYHA functional class II-III) and chest pain that she defined as different from the previous episode, denying palpitations, presyncope or syncope.
A clinical and genetic study was performed, with the results shown below.

Physical examination
Good general condition at rest. No baseline dyspnoea. Preserved higher functions.
Good distal perfusion.
Haemodynamically stable. Blood pressure 140/70 mmHg.
On auscultation, non-tachycardic rhythmic tones. Variable systolic murmur in foci of the base, not radiated. No semiology of pulmonary or systemic congestion.

COMPLEMENTARY TESTS
Electrocardiogram: sinus rhythm at 100 bpm, P for biauricular growth, voltage criteria for LV hypertrophy. ST underleveled with inferolateral flat T.
24-hour Holter: with average HR of 95 bpm, minimum of 52 and maximum of 152 diurnal. No ventricular tachycardia spells or atrial fibrillation were detected.
Isolated atrial complexes. No significant pauses.
Transthoracic echocardiography: left atrium of normal dimensions (anteroposterior dimension 37 mm; volume 30 ml/m2). Mitral valve with slightly thickened leaflets; the posterior leaflet shows a complete restriction in its closure; the anterior leaflet shows an evident anterior systolic movement, which at rest does not contact the interventricular septum; however, with Valsalva manoeuvre there is an evident contact with the septum (in addition to the free edge of the anterior leaflet, there seems to be an anterior systolic movement of the subvalvular apparatus, mainly secondary chordae tendineae dependent on it). Left ventricle of normal dimensions (end-diastolic and end-systolic diameters 41 mm and 27 mm, respectively; end-diastolic and end-systolic volumes 76 ml and 24 ml, respectively), with severely increased myocardial thickness at the basal septal and midventricular levels (septal wall 17 mm; inferolateral wall 10 mm). No segmental contractility abnormalities were observed, with ejection fraction by biplane disc method of 68%.
Trivalve aortic valve, with slight fibrosclerosis, and good opening. Left ventricular outflow tract (LVOT) 19 mm. Aortic root at the level of the sinuses of Valsalva 31 mm, sinotubular junction 29 mm. Right ventricle of normal dimensions, with normal systolic function (TAPSE 24 mm; S ́ Tissue Doppler of the lateral tricuspid annulus 12.9 cm/s). Inferior vena cava of normal dimensions (15 mm), with inspiratory collapse greater than 50%. No pericardial effusion. Transmitral flow with E-wave pattern less than A. Pulmonary vein flow with S-wave pattern greater than D. There is an insufficiency with two jets: one caused by the anterior systolic movement of the anterior leaflet, which increases when forced inspiration or the Valsalva manoeuvre occurs, which suggests that the same occurs when the patient makes efforts; and another dependent on the restriction of the posterior leaflet (fixed) and which runs with a Coanda effect on the posterior wall of the atrium, reaching its ceiling; from a global point of view, mitral insufficiency of moderate degree (2+/3+) is quantified. As a consequence of the contact of the anterior mitral leaflet (and probably chordae) with the interventricular septum with inspiration and Valsalva manoeuvre, a systolic ejection gradient is generated at the level of the outflow tract-basal zone that reaches 90 mmHg (this gradient is not recorded at rest). Transaortic flow with peak velocity not measurable.
Jet of mild tricuspid insufficiency (1+), with suboptimal Doppler recording for estimation of pulmonary artery systolic pressure. Conclusions: asymmetric septal hypertrophic cardiomyopathy (maximum thickness 17 mm). Systolic ejection gradient at the level of the left ventricular outflow tract-basal zone reaches 90 mmHg with forced inspiration (no gradient at rest with gentle breathing).
Cardiac magnetic resonance imaging: there is evidence of myocardial thickening mainly in the basal region of the myocardium, affecting the anterior septal and pure anterior segment to a greater extent. With thicknesses that in telediastolic sequences reach up to 22 mm in size. Measurements range between 22, 19 and 18.5 mm. The LV outflow tract sequences show an elongated anterior valve with partial anterior systolic motion and an obstruction to the LV outflow tract manifested by an obstructive jet, all these data support the diagnosis of obstructive hypertrophic cardiomyopathy. The functional analysis of the LV shows the following values: EF 84 %, systolic volume 86 ml, cardiac output 7.3 litres/minute, end-diastolic volume 102 ml and end-systolic volume 16 ml. No aortic valve and pulmonary valve regurgitation was observed. Mild to moderate mitral regurgitation was observed.
Minimal pericardial effusion. Late enhancement sequences revealed no clear uptake by the LV myocardium and a clear enhancement pattern typical of hypertrophic heart disease.
Genetic study: positive for a mutation with clear pathogenic significance, MYBPC3 gene, encoding protein: myosin-binding protein C, cardiac-type, NP_000247.2: p.Glu542Gln/NC_000011.9: g.47364129C>G
Haemodynamic report: coronary arteries without angiographically significant lesions. In the middle segment of the anterior descending artery there is an intramyocardial trajectory with systolic compression phenomenon. There is a septal branch of intermediate calibre and development (which is verified by injection of iodinated contrast and Sonovue ecopotentiator through OTW balloon) that irrigates an area of the interventricular septum suitable for ablation. In the distal segment of the septum there is a systolic compression phenomenon. A total of 1.7 ml was injected through an inflated OTW balloon with a diameter of 2 mm and a length of 8 mm. Pre-ablation gradient recording: baseline: 40 mmHg. Postextrasystolic: 90 mmHg. Post-ablation gradient recording: Baseline: 15 mmHg. Postextrasystolic: 25 mmHg Transthoracic echocardiogram-guided procedure with good outcome and no complications.
Right femoral closure with angioseal.

EVOLUTION
The patient, despite receiving beta-blocker and ACE inhibitor medical treatment, reported worsening of her functional class, progressive dyspnoea in recent months with episodes of orthopnoea, non-specific chest discomfort and palpitations, especially on exertion. No presyncope or syncope. With the titration of beta-blockers, good heart rate control was achieved both at rest and during the exercise test, despite which, she remained very symptomatic, especially during exercise, with no obstructive gradient at rest, with Valsalva reaching 80 mmHg. Admission was decided to start treatment with disopyramide with a very partial clinical response, with a relative reduction of the dynamic gradient to 65 mmHg. Given the persistent clinical refractory to medical treatment, more invasive management was decided, indicating alcohol septal ablation, which was performed by haemodynamics without complications associated with the procedure. Significant reduction in LVOT obstructive gradient and symptomatic improvement of the patient was documented, which has been maintained during subsequent follow-up.

DIAGNOSIS
Hypertrophic obstructive cardiomyopathy, with subaortic gradient in LV outflow tract, symptomatically refractory to medical treatment. Successful septal ablation with alcohol.
Hypertrophic sarcomeric cardiomyopathy, with positive genetic study for the gene encoding a myosin-binding protein type C (MYBPC3).
