A 70 years–old man with a history of systemic hypertension and surgically treated bilateral carpal tunnel was referred for dyspnea on exertion for few months. At physical examination a systolic heart murmur exacerbated by Valsalva maneuver was appreciated; no signs of heart failure. EKG with low–voltage QRS is shown in Fig.1A. Blood tests showed elevated NT–proBNP (1434 pg/ml). Transthoracic echo (ETT) revealed hyperdynamic left ventricle (LV) with severe asymmetric hypertrophy (interventricular septum 23 mm, posterior wall 17 mm), ‘granular sparkling’ appearance of myocardium, grade 2 diastolic dysfunction and ‘apical sparing’ pattern at global longitudinal strain (GLS, Fig.1B). Moreover, elongated mitral leaflets, anomalies of mitral sub–valvular apparatus with apically displaced papillary muscles and systolic anterior motion of the mitral valve (SAM) with dynamic outflow tract obstruction (20 mmHg at rest and 90–100 mmHg with Valsalva maneuver) were seen (Fig. 2A–B–C). For ETT suspicion of a coronary artery anomaly (Fig.3A), the patient underwent coronary CT angiography that confirmed a separate origin of left anterior descending artery (LAD) from right coronary sinus with a long mid–proximal intramyocardial bridge (Fig.3B–C). As a part of evaluation of the hypertrophic phenotype, a 99mTC–HDP bone scintigraphy was performed with high–grade of cardiac uptake (Perugini Score 2, Fig.1C). Screening for monoclonal gammopathy and genetic testing for hereditary amyloidosis resulted negative. Cardiac MRI revealed late gadolinium enhancement (LGE) in midwall septum, diffuse endocardial LGE in the LV basal inferior and posterolateral walls (Fig.1D), elevated T1 mapping and ECV (40–42%) and confirmed the asymmetric hypertrophy with apically displaced papillary muscles (Fig.2D) and SAM. These clinical, EKG and imaging features led to a non–invasive diagnosis of wild–type transthyretin cardiac amyloidosis (ATTRwt) with aspects of hypertrophic obstructive cardiomyopathy (HOCM). The patient started a disease–modifying therapy with Tafamidis and, cautiously, Metoprolol tartrate, with good tolerance and relevant reduction of LVOT obstruction at follow–up. Genetic testing for HCM was also performed. In conclusion, in rare cases hypertrophic phenotype may be challenging, showing features overlap between ATTR and HOCM. Multimodality evaluation is crucial for a correct diagnosis, thus identifying the most effective target–therapy for the underlying hypertrophic phenotype.

A 66–year–old man was suddenly referred to the emergency department (ED) for an extra–hospital cardiac arrest due to ventricular fibrillation, promptly treated by a single DC shock. Four months prior, he had undergone aortic valve replacement with a biological valve prosthesis (BVP, Perimount Magna n. 23) for severe aortic stenosis. One month after cardiac surgery the patient was hospitalized for acute cholecystitis requiring antibiotics and percutaneous cholecystostomy. On arrival to the ED the patient was awake and completely asymptomatic; no fever during days before the episode. He had been complaining of constricting retrosternal chest pain during physical exertion for ten days. However, no signs of ischemia were seen on the EKG. TT echo showed a very large pulsatile anaechogenic area posteriorly to BVP. Transesophageal echocardiography (TEE 2D, Traditional 3D and TrueVue) highlighted a very large pseudoaneurysm of mitral–aortic interventricular fibrosa (P–MAIVF; Figures 1 and 2, long axis and short–axis views). TEE features included: 1) a very large cavity with thickened walls, extended for more than two–thirds of the prosthetic circumference and with multiple septa; 2) a large communication between the left ventricular outflow tract (LVOT) and P–MAIVF (see yellow dotted line in Fig.1A) with a to–and–fro flow into the cavity and a prominent systolic pulsation; 3) no paraprosthetic leak and absence of any attached mass or intraprosthetic aortic regurgitation. These findings suggested a prosthetic aortic valve endocarditis with an extensive periannular involvement. Moreover, the P–MAIVF may have led to “ab extrinseco” compression of the left coronary artery, with a potential role in the genesis of chest pain and ventricular arrhythmia (in absence of significant CAD at preoperative coronary angiography). An empiric antibiotic therapy with daptomycin and piperacillin–tazobactam was started. The patients subsequently underwent Bentall surgery with a subannular implantation technique (Perimount valvular prosthesis n.23 and Gelweave vascular prosthesis n.28). Figure 3 shows an intraoperative image and postoperative TEE. In conclusion, P–MAIVF is an ominous complication of prosthetic valve endocarditis. Presentation with exertional angina and cardiac arrest is unusual. TEE is sensitive for diagnosis and 3D echo provides better insights into the anatomy helping formulate an appropriate surgical strategy.

This case refers to a 69–year–old woman with a history of hypertrophic cardiomyopathy (HCM) with severe mid–ventricular obstruction complicated by apical aneurysm and restrictive phenotype. This patient had no left ventricular outflow tract obstruction and previous examinations showed moderate mitral regurgitation (MR) with suboptimal echocardiographic follow–up. ICD was previously implanted for primary prevention. Disease progression was complicated by episodes of acute heart failure (HF) caused by atrial fibrillation/tachycardia (AF or AT) with rapid ventricular response despite pharmacological therapy and a transcatheter ablation attempt. The patient was admitted to our Cardiac Intensive Care Unit with acute pulmonary oedema and extreme general frailty. EKG showed normal sinus rhythm alternating with AT with high ventricular rate. Transthoracic (TTE) and transesophageal (TEE) echocardiograms gave evidence of severe hypertrophy of left ventricular (LV) mid–cavity segments (mid IVS = 26 mm) with mid–ventricular systolic obliteration (with no more evidence of significant gradient) and a large apical aneurysm (37x35 mm) resulting in an “hourglass” shaped LV cavity (Figure 1). In addition the examinations highlighted systolic dysfunction with severe stroke volume reduction and severe MR caused by annulus dilatation with anterior jet direction due to leaflets abnormal coaptation (Figure 2). HF was multifactorial, caused not only by MR and atrial tachyarrhythmias but also due to the abnormal large apical aneurysm and the small left ventricular chamber with low compliance. The anatomical features obtained from TEE and cardiac CT (Figure 3) were analyzed by the Heart Team. Surgery with aneurysmectomy and mitral valve repair or replacement was excluded due to patient‘s frailty. Despite the suboptimal valve and LV chamber anatomy, percutaneous mitral valve repair with MitraClip was considered but also deferred owing to the unstable hemodynamic conditions. Further hemodynamic deterioration led to the patient’s exitus. Discussion HCM with mid–ventricular obstruction may be complicated by apical aneurysm. Large apical aneurysms can reduce LV contractile efficiency and the combination with severe MR can cause further loss of anterograde cardiac output leading to a progressive and fatal deterioration. A better outcome can only be achieved through careful follow–up and early detection and management of disease complications.