Aims The aims of this study are to evaluate the progressive involvement of the cardiac conduction system in the Kearn–Sayre syndrome (KSS) and to establish criteria for the prevention of episodes of syncope or sudden cardiac death. Methods and results This is a prospective monocentric study including KSS patients, with diagnosis based on clinical manifestations, muscle biopsy, and genetic tests, before the age of 18. All patients underwent cardiac screening examination with 12-lead electrocardiogram (ECG), 24-h Holter monitoring, and pacemaker (PM) interrogation twice a year. Fifteen patients (nine males, mean age 16.6 ± 3.9 years) with a sporadic KSS were recruited. All subjects manifested at least one of the intraventricular conduction defects (IVDs): 1 right bundle branch block (RBBB), 2 left anterior fascicular block (LAFB), 11 a bi-fascicular block (RBBB + LAFB), and 1 left posterior fascicular block. Most children with bi-fascicular block developed LAFB before the RBBB (P = 0.0049). In six patients, IVD degenerated into atrioventricular block (AVB). Endocavitary PM was implanted in 11 patients (6 with AVB and 5 with a bi-fascicular block), while an implantable cardioverter-defibrillator only in one patient with a non-sustained ventricular tachycardia. Four died at mean age of 14.7 ± 2.6 years, but none of them suddenly. Conclusion Even a ‘simple’ ECG can predict the arrhythmic risk and the occurrence of catastrophic events in young patients with KSS. Left anterior fascicular block precedes RBBB in determining the bi-fascicular block and this can predict an inexorable progression of the conduction defects even in a short time. Pacemaker implantation may be indicated in these patients since the first bi-fascicular block manifestation.

Although survival has significantly improved in the last four decades, the diagnosis of Ebstein’s anomaly is still associated with a 20-fold increased risk of mortality, which generally drops after neonatal period and increases subtly thereafter. With increasing age of presentation, appropriate timing of intervention is challenged by a wide spectrum of disease and paucity of data on patient-tailored interventional strategies. The present review sought to shed light on the wide grey zone of post-neonatal Ebstein’s manifestations, highlighting current gaps and achievements in knowledge for adequate risk assessment and appropriate therapeutic strategy.A ‘wait-and-see’ approach has been adopted in many circumstances, though its efficacy is now questioned by the awareness that Ebstein’s anomaly is not a benign disease, even when asymptomatic. Moreover, older age at intervention showed a negative impact on post-surgical outcome.In order to tackle the extreme heterogeneity of Ebstein’s anomaly, this review displays the multimodality imaging assessment necessary for a proper anatomical classification and the multidisciplinary approach needed for a comprehensive risk stratification and monitoring strategy. Currently available predictors of clinical outcome are summarised for both operated and unoperated patients, with the aim of supporting the decisional process on the choice of appropriate therapy and optimal timing for intervention.

MA, a 28 years old male with a diagnosis of OHCM since 2008, came to our attention for effort dyspnea (NYHA II) and fatigue limiting his greengrocer activity. Decompensated T1DM (HbA1C 12%), HTN, obesity (BMI 37). In 2017 he implanted a bicameral ICD in primary prevention, later extracted for sepsis and replaced with S–ICD. In the last 2 years he had 3–4 episodes of FAP, the latter causing an AHF requiring hospitalization in ICU. CV therapy: metoprolol 100 mg bid; disopyramide 100 mg x 3; rivaroxaban 20 mg die, insulin. Resting ECG: sinus bradycardia, HR 50 bpm, LVH with secondary repolarization abnormalities, long QTc (>500 ms). At basal and stress echocardiography (Fig. 1) he had a maximum wall thickness at medium IVS of 21 mm and severe dynamic obstruction due to complete SAM (Gmax 50 –> 135 mmHg); moderate mitral regurgitation, secondary to SAM, with eccentric jet; worsening of obstruction and MR at peak of stress (Gmax 145 mmHg; MR 3+); absence of pulmonary hypertension; severe left atrial dilatation (53ml/mq). He was considered not eligible for Morrow myectomy due to unfavorable anatomy (basal IVS of 11–14 mm, maximum thickness at medium IVS). Mitral valve area was > 4cmq. After Heart Team evaluation the patient was proposed for a reparative approach of mitral valve, and TEER was preferred to open surgery for favorable anatomy and to avoid an increased peri–operative risk in a patient with different comorbidities. The procedure was successfully conducted with the implantation of 1 MitraClip (MITRACLIP® Evalve – Abbott) in central position, with echocardiographic evidence (Fig. 2) of complete SAM resolution, reduction of MR to 1+ and gradient abolition (13 mmHg post–Valsalva maneuver). MVA at intraoperative TEE: >2 cmq. At six–months follow–up the patient reported a satisfactory reduction of symptoms without limitations in non–agonist physical activity and work, yet he still was not asymptomatic. Although on best medical treatment and after TEER, transthoracic echocardiographic control showed a recurrence of SAM and LVOTO (40 mmHg at basal, 70 mm Hg post – Valsalva maneuver). He is still candidate to myosin inhibition treatment. This case highlights the multiple challenges of LVOTO in HCM patients. Although a hybrid approach may be a promising treatment of OHCM, especially in youngers, an increase of expertise in this field and further research is needed, focusing on predictors of procedural failure and success.

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