Echocardiographic Strain Abnormalities Precede Left Ventricular Hypertrophy Development in Hypertrophic Cardiomyopathy Mutation Carriers.

Hypertrophic cardiomyopathy (HCM) is a genetic disease characterized by unexplained left ventricular hypertrophy (LVH), diastolic dysfunction, and increased sudden-death risk. Early detection of the phenotypic expression of the disease in genetic carriers without LVH (Gen+/Phen-) is crucial for emerging therapies. This clinical study aims to identify echocardiographic predictors of phenotypic development in Gen+/Phen-. Sixteen Gen+/Phen- (one subject with troponin T, six with myosin heavy chain-7, and nine with myosin-binding protein C3 mutations), represented the study population. At first and last visit we performed comprehensive 2D speckle-tracking strain echocardiography. During a follow-up of 8 ± 5 years, five carriers developed LVH (LVH+). At baseline, these patients were older than those who did not develop LVH (LVH-) (30 ± 8 vs. 15 ± 8 years, p = 0.005). LVH+ had reduced peak global strain rate during the isovolumic relaxation period (SRIVR) (0.28 ± 0.05 vs. 0.40 ± 0.11 1/s, p = 0.048) and lower global longitudinal strain (GLS) (-19.8 ± 0.4 vs. -22.3 ± 1.1%; p < 0.0001) than LVH- at baseline. SRIVR and GLS were not correlated with age (overall, p > 0.08). This is the first HCM study investigating subjects before they manifest clinically significant or relevant disease burden or symptomatology, comparing at baseline HCM Gen+/Phen- subjects who will develop LVH with those who will not. Furthermore, we identified highly sensitive, easily obtainable, age- and load-independent echocardiographic predictors of phenotype development in HCM gene carriers who may undergo early preventive treatment.

Long-term follow-up study on obstructive hypertrophic cardiomyopathy patients treated with disopyramide: evidences of a notable trend in symptom control within a real-world clinical setting.

Background: In obstructive hypertrophic cardiomyopathy (HOCM), disopyramide is used in patients who remain symptomatic despite ß-blockers or verapamil. However, effectiveness of disopyramide therapy has not been clearly established due to inconsistent definition of responders and the insufficient length of follow-ups reported in literature. To address these shortcomings, we have conducted a retrospective analysis from detailed databases with long follow-up, from two HCM Referral Centers. Methods: 62 symptomatic HOCM patients (43% women, age 52 ± 14 years) with left ventricular (LV) outflow tract gradient (LVOTG) ≥ 50 mmHg at rest or during provocation, were recruited from two Italian Centers. Disopyramide was added as second-line therapy in the patients in whom symptoms persisted despite classic pharmacologic treatment. Patients in NYHA class > II at baseline who reached NYHA class II or I, and patients in NYHA class II at baseline who reached NYHA class I or symptoms stabilization were defined as responders. Results: At follow-up, (mean 4.4 years, IQR 1.1-6.6 years), 47 patients (76%) were responders, whereas 15 (24%) were no-responders. Responders showed larger LV diastolic volume index (LVEDVi) at baseline as compared to no-responders (61 ± 14 vs. 49 ± 16 ml, respectively, p = 0.018), and, at follow-up, reached lower LVOTG than no-responders (43 ± 32 vs. 66 ± 28 mmHg, respectively, p = 0.013), with a LVOTG <50 mmHg more represented in responders than in no-responders (75% vs. 25%, respectively; p = 0.004). No side effects requiring discontinuation of the therapy were recorded. Conclusion: HOCM patients treated with disopyramide as second-line therapy in a quite long-follow-up showed a significant improvement of symptoms, which avoided SRT in up to 70% of them. Moreover, our data suggest that a larger LVEDVi at baseline identify the subgroup of patients who benefit the most from the therapy in terms of symptoms and reduction of LVOTG below 50 mmHg during treatment. We will discuss specific situations where disopyramide may be preferred over myosin inhibition to ensure that effective therapeutic options are fully considered and not prematurely dismissed.

Artificial Intelligence-Driven Electrocardiography: Innovations in Hypertrophic Cardiomyopathy Management.

Hypertrophic Cardiomyopathy (HCM) presents a complex diagnostic and prognostic challenge due to its heterogeneous phenotype and clinical course. Artificial Intelligence (AI) and Machine Learning (ML) techniques hold promise in transforming the role of Electrocardiography (ECG) in HCM diagnosis, prognosis, and management. AI, including Deep Learning (DL), enables computers to learn patterns from data, allowing for the development of models capable of analyzing ECG signals. DL models, such as convolutional neural networks, have shown promise in accurately identifying HCM-related abnormalities in ECGs, surpassing traditional diagnostic methods. In diagnosing HCM, ML models have demonstrated high accuracy in distinguishing between HCM and other cardiac conditions, even in cases with normal ECG findings. Additionally, AI models have enhanced risk assessment by predicting arrhythmic events leading to sudden cardiac death and identifying patients at risk for atrial fibrillation and heart failure. These models incorporate clinical and imaging data, offering a comprehensive evaluation of patient risk profiles. Challenges remain, including the need for larger and more diverse datasets to improve model generalizability and address imbalances inherent in rare event prediction. Nevertheless, AI-driven approaches have the potential to revolutionize HCM management by providing timely and accurate diagnoses, prognoses, and personalized treatment strategies based on individual patient risk profiles. This review explores the current landscape of AI applications in ECG analysis for HCM, focusing on advancements in AI methodologies and their specific implementation in HCM care.

Diagnosis and Clinical Implication of Left Ventricular Aneurysm in Hypertrophic Cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is a genetic disease with heterogeneous clinical presentation and prognosis. Within the broad phenotypic expression of HCM, there is a subgroup of patients with a left ventricular (LV) apical aneurysm, which has an estimated prevalence between 2% and 5%. LV apical aneurysm is characterized by an area of apical dyskinesis or akinesis, often associated with regional scarring. To date, the most accepted pathomechanism of this complication is, in absence of coronary artery disease, the high systolic intra-aneurysmal pressure, which, combined with impaired diastolic perfusion from lower stroke volume, results in supply-demand ischemia and myocardial injury. Apical aneurysm is increasingly recognized as a poor prognostic marker; however, the efficacy of prophylactic anticoagulation and/or intracardiac cardioverted defibrillator (ICD) in improving morbidity and mortality is not yet clearly demonstrated. This review aims to elucidate the mechanism, diagnosis and clinical implication of LV aneurysm in patients with HCM.