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1. Clinical presentation and long-term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study

Author

Katie Linter, Gali S. Kolt, Satish Adwani, Gabrielle Norrish, Fabrizio Drago, Marta Rubino, Maria Ilina, Vinay Bhole, Kathleen Dady, Tara Bharucha, Elspeth Brown, Iacopo Olivotto, Laz Lazarou, Graham Stuart, Martina Caiazza, Amos Wong, Caroline Jones, Amrit Lota, Grazia Delle Donne, Orhan Uzun, Anca Popoiu, Silvia Passantino, Jon Searle, Juan Pablo Kaski, Silvia Favilli, Lidia Ziółkowska, Giuseppe Limongelli, Ella Field, Karen McLeod, Elena Cervi, Piers E.F. Daubeney, Ruth McGowan, Zdenka Reinhardt, Anwar Baban, Sujeev Mathur, Norrish, G., Kolt, G., Cervi, E., Field, E., Dady, K., Ziolkowska, L., Olivotto, I., Favilli, S., Passantino, S., Limongelli, G., Caiazza, M., Rubino, M., Baban, A., Drago, F., Mcleod, K., Ilina, M., Mcgowan, R., Stuart, G., Bhole, V., Uzun, O., Wong, A., Lazarou, L., Brown, E., Daubeney, P. E. F., Lota, A., Delle Donne, G., Linter, K., Mathur, S., Bharucha, T., Adwani, S., Searle, J., Popoiu, A., Jones, C. B., Reinhardt, Z., and Kaski, J. P.

Subjects
Male, Pediatrics, medicine.medical_specialty, Systole, Cardiomyopathy, Disease, Ventricular Function, Left, Cohort Studies, Infant‐onset, medicine, Humans, Diseases of the circulatory (Cardiovascular) system, Genetic Testing, Genetic testing, medicine.diagnostic_test, business.industry, Hazard ratio, Hypertrophic cardiomyopathy, Original Articles, Cardiomyopathy, Hypertrophic, medicine.disease, Prognosis, Hypertrophic, Infant-onset, Inborn error of metabolism, RC666-701, Cohort, Etiology, Original Article, Female, Cardiology and Cardiovascular Medicine, business
Abstract

Aims: Children presenting with hypertrophic cardiomyopathy (HCM) in infancy are reported to have a poor prognosis, but this heterogeneous group has not been systematically characterized. This study aimed to describe the aetiology, phenotype, and outcomes of infantile HCM in a well-characterized multicentre European cohort. Methods and results: Of 301 children diagnosed with infantile HCM between 1987 and 2019 presenting to 17 European centres [male n=187 (62.1%)], underlying aetiology was non-syndromic (n=138, 45.6%), RASopathy (n=101, 33.6%), or inborn error of metabolism (IEM) (n=49, 16.3%). The most common reasons for presentation were symptoms (n=77, 29.3%), which were more prevalent in those with syndromic disease (n=62, 61.4%, P&nbsp

Published
2021

2. Development of a Novel Risk Prediction Model for Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy (HCM Risk-Kids)

Author

Ferran Gran, Terence Prendiville, Ella Field, Orhan Uzun, Perry M. Elliott, Sujeev Mathur, Adrián Fernández, Georgia Sarquella-Brugada, Tara Bharucha, Elspeth Brown, Satish Adwani, Peter Kubuš, Caroline Jones, Iacopo Olivotto, Elena Biagini, Giuseppe Limongelli, J Toru-Kubo, Aristides Anastasakis, Roberto Barriales-Villa, Vinay Bhole, Piers E.F. Daubeney, Gabriele Vignati, Gabrielle Norrish, Luis G Guereta, Graham Stuart, Karen McLeod, Katie Linter, Robert G. Weintraub, Sergi Cesar, Chiara Marrone, Lidia Ziółkowska, Zdenka Reinhardt, Luca Ragni, Regina Bökenkamp, Torsten Bloch Rasmussen, Pablo García-Pavía, T Ding, Rumana Z Omar, Margherita Calcagnino, Juan Pablo Kaski, Constantinos O'Mahony, Constancio Medrano, Maria Ilina, Tiziana Felice, Hans De Wilde, Sophie Duignan, Anwar Baban, Francisco Castro, Jens Mogensen, Kaski, J. P., Norrish, G., Ding, T., Field, E., Ziolkowska, L., Olivotto, I., Limongelli, G., Anastasakis, A., Weintraub, R., Biagini, E., Ragni, L., Prendiville, T., Duignan, S., Mcleod, K., Ilina, M., Fernandez, A., Bokenkamp, R., Baban, A., Kubus, P., Daubeney, P. E. F., Sarquella-Brugada, G., Cesar, S., Marrone, C., Bhole, V., Medrano, C., Uzun, O., Brown, E., Gran, F., Castro, F. J., Stuart, G., Vignati, G., Barriales-Villa, R., Guereta, L. G., Adwani, S., Linter, K., Bharucha, T., Garcia-Pavia, P., Rasmussen, T. B., Calcagnino, M. M., Jones, C. B., De Wilde, H., Toru-Kubo, J., Felice, T., Mogensen, J., Mathur, S., Reinhardt, Z., O'Mahony, C., Elliott, P. M., and Omar, R. Z.

Subjects
Male, medicine.medical_specialty, Adolescent, Prognosi, medicine.medical_treatment, Cardiomyopathy, 030204 cardiovascular system & hematology, Ventricular tachycardia, Risk Assessment, Follow-Up Studie, Sudden cardiac death, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Retrospective Studie, Interquartile range, Internal medicine, medicine, Humans, cardiovascular diseases, 030212 general & internal medicine, Child, Retrospective Studies, business.industry, Incidence, Risk Factor, Incidence (epidemiology), Hypertrophic cardiomyopathy, Retrospective cohort study, Cardiomyopathy, Hypertrophic, Prognosis, medicine.disease, Implantable cardioverter-defibrillator, Europe, Survival Rate, Death, Sudden, Cardiac, cardiovascular system, Cardiology, Sudden cardiac death, risk predictors, hypertrophic cardiomyopathy in children, Female, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies, Human
Abstract

Importance: Sudden cardiac death (SCD) is the most common mode of death in childhood hypertrophic cardiomyopathy (HCM), but there is no validated algorithm to identify those at highest risk.Objective: To develop and validate an SCD risk prediction model that provides individualized risk estimates.Design, Setting, and Participants: A prognostic model was developed from a retrospective, multicenter, longitudinal cohort study of 1024 consecutively evaluated patients aged 16 years or younger with HCM. The study was conducted from January 1, 1970, to December 31, 2017.Exposures: The model was developed using preselected predictor variables (unexplained syncope, maximal left-ventricular wall thickness, left atrial diameter, left-ventricular outflow tract gradient, and nonsustained ventricular tachycardia) identified from the literature and internally validated using bootstrapping.Main Outcomes and Measures: A composite outcome of SCD or an equivalent event (aborted cardiac arrest, appropriate implantable cardioverter defibrillator therapy, or sustained ventricular tachycardia associated with hemodynamic compromise).Results: Of the 1024 patients included in the study, 699 were boys (68.3%); mean (interquartile range [IQR]) age was 11 (7-14) years. Over a median follow-up of 5.3 years (IQR, 2.6-8.3; total patient years, 5984), 89 patients (8.7%) died suddenly or had an equivalent event (annual event rate, 1.49; 95% CI, 1.15-1.92). The pediatric model was developed using preselected variables to predict the risk of SCD. The model's ability to predict risk at 5 years was validated; the C statistic was 0.69 (95% CI, 0.66-0.72), and the calibration slope was 0.98 (95%, CI 0.59-1.38). For every 10 implantable cardioverter defibrillators implanted in patients with 6% or more of a 5-year SCD risk, 1 patient may potentially be saved from SCD at 5 years.Conclusions and Relevance: This new, validated risk stratification model for SCD in childhood HCM may provide individualized estimates of risk at 5 years using readily obtained clinical risk factors. External validation studies are required to demonstrate the accuracy of this model's predictions in diverse patient populations.

Published
2019
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