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23 results on '"Ojala, Tiina H."'

1. Recessive TMOD1 mutation causes childhood cardiomyopathy

Author

Vasilescu, Catalina, Colpan, Mert, Ojala, Tiina H., Manninen, Tuula, Mutka, Aino, Ylänen, Kaisa, Rahkonen, Otto, Poutanen, Tuija, Martelius, Laura, Kumari, Reena, Hinterding, Helena, Brilhante, Virginia, Ojanen, Simo, Lappalainen, Pekka, Koskenvuo, Juha, Carroll, Christopher J., Fowler, Velia M., Gregorio, Carol C., and Suomalainen, Anu

Published
2024
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2. Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy

Author

Norrish, Gabrielle, Ding, Tao, Field, Ella, Cervi, Elena, Ziółkowska, Lidia, Olivotto, Iacopo, Khraiche, Diala, Limongelli, Giuseppe, Anastasakis, Aris, Weintraub, Robert, Biagini, Elena, Ragni, Luca, Prendiville, Terrence, Duignan, Sophie, McLeod, Karen, Ilina, Maria, Fernández, Adrián, Marrone, Chiara, Bökenkamp, Regina, Baban, Anwar, Kubus, Peter, Daubeney, Piers E.F., Sarquella-Brugada, Georgia, Cesar, Sergi, Klaassen, Sabine, Ojala, Tiina H., Bhole, Vinay, Medrano, Constancio, Uzun, Orhan, Brown, Elspeth, Gran, Ferran, Sinagra, Gianfranco, Castro, Francisco J., Stuart, Graham, Vignati, Gabriele, Yamazawa, Hirokuni, Barriales-Villa, Roberto, Garcia-Guereta, Luis, Adwani, Satish, Linter, Katie, Bharucha, Tara, Garcia-Pavia, Pablo, Siles, Ana, Rasmussen, Torsten B., Calcagnino, Margherita, Jones, Caroline B., De Wilde, Hans, Kubo, Toru, Felice, Tiziana, Popoiu, Anca, Mogensen, Jens, Mathur, Sujeev, Centeno, Fernando, Reinhardt, Zdenka, Schouvey, Sylvie, O’Mahony, Costas, Omar, Rumana Z., Elliott, Perry M., and Kaski, Juan Pablo

Published
2022
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6. Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy

Author

Norrish, Gabrielle, primary, Cleary, Aoife, additional, Field, Ella, additional, Cervi, Elena, additional, Boleti, Olga, additional, Ziółkowska, Lidia, additional, Olivotto, Iacopo, additional, Khraiche, Diala, additional, Limongelli, Giuseppe, additional, Anastasakis, Aris, additional, Weintraub, Robert, additional, Biagini, Elena, additional, Ragni, Luca, additional, Prendiville, Terence, additional, Duignan, Sophie, additional, McLeod, Karen, additional, Ilina, Maria, additional, Fernandez, Adrian, additional, Marrone, Chiara, additional, Bökenkamp, Regina, additional, Baban, Anwar, additional, Kubus, Peter, additional, Daubeney, Piers E.F., additional, Sarquella-Brugada, Georgia, additional, Cesar, Sergi, additional, Klaassen, Sabine, additional, Ojala, Tiina H., additional, Bhole, Vinay, additional, Medrano, Constancio, additional, Uzun, Orhan, additional, Brown, Elspeth, additional, Gran, Ferran, additional, Sinagra, Gianfranco, additional, Castro, Francisco J., additional, Stuart, Graham, additional, Yamazawa, Hirokuni, additional, Barriales-Villa, Roberto, additional, Garcia-Guereta, Luis, additional, Adwani, Satish, additional, Linter, Katie, additional, Bharucha, Tara, additional, Gonzales-Lopez, Esther, additional, Siles, Ana, additional, Rasmussen, Torsten B., additional, Calcagnino, Margherita, additional, Jones, Caroline B., additional, De Wilde, Hans, additional, Kubo, Toru, additional, Felice, Tiziana, additional, Popoiu, Anca, additional, Mogensen, Jens, additional, Mathur, Sujeev, additional, Centeno, Fernando, additional, Reinhardt, Zdenka, additional, Schouvey, Sylvie, additional, Elliott, Perry M., additional, and Kaski, Juan Pablo, additional

Published
2022
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9. External validation of the HCM Risk-Kids model for predicting sudden cardiac death in childhood hypertrophic cardiomyopathy

Author

Norrish, Gabrielle, primary, Qu, Chen, additional, Field, Ella, additional, Cervi, Elena, additional, Khraiche, Diala, additional, Klaassen, Sabine, additional, Ojala, Tiina H, additional, Sinagra, Gianfranco, additional, Yamazawa, Hirokuni, additional, Marrone, Chiara, additional, Popoiu, Anca, additional, Centeno, Fernando, additional, Schouvey, Sylvie, additional, Olivotto, Iacopo, additional, Day, Sharlene M, additional, Colan, Steve, additional, Rossano, Joseph, additional, Wittekind, Samuel G, additional, Saberi, Sara, additional, Russell, Mark, additional, Helms, Adam, additional, Ingles, Jodie, additional, Semsarian, Christopher, additional, Elliott, Perry M, additional, Ho, Carolyn Y, additional, Omar, Rumana Z, additional, and Kaski, Juan P, additional

Published
2021
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10. Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy

Author

Koskenvuo, Juha W., primary, Saarinen, Inka, additional, Ahonen, Saija, additional, Tommiska, Johanna, additional, Weckström, Sini, additional, Seppälä, Eija H., additional, Tuupanen, Sari, additional, Kangas-Kontio, Tiia, additional, Schleit, Jennifer, additional, Heliö, Krista, additional, Hathaway, Julie, additional, Gummesson, Anders, additional, Dahlberg, Pia, additional, Ojala, Tiina H., additional, Vepsäläinen, Ville, additional, Kytölä, Ville, additional, Muona, Mikko, additional, Sistonen, Johanna, additional, Salmenperä, Pertteli, additional, Gentile, Massimiliano, additional, Paananen, Jussi, additional, Myllykangas, Samuel, additional, Alastalo, Tero-Pekka, additional, and Heliö, Tiina, additional

Published
2021
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12. External validation of the HCM Risk-Kids model for predicting sudden cardiac death in childhood hypertrophic cardiomyopathy.

Author

Norrish, Gabrielle, Qu, Chen, Field, Ella, Cervi, Elena, Khraiche, Diala, Klaassen, Sabine, Ojala, Tiina H, Sinagra, Gianfranco, Yamazawa, Hirokuni, Marrone, Chiara, Popoiu, Anca, Centeno, Fernando, Schouvey, Sylvie, Olivotto, Iacopo, Day, Sharlene M, Colan, Steve, Rossano, Joseph, Wittekind, Samuel G, Saberi, Sara, and Russell, Mark

Published
2022
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15. Genetic Basis of Severe Childhood-Onset Cardiomyopathies

Author

Vasilescu, Catalina, primary, Ojala, Tiina H., additional, Brilhante, Virginia, additional, Ojanen, Simo, additional, Hinterding, Helena M., additional, Palin, Eino, additional, Alastalo, Tero-Pekka, additional, Koskenvuo, Juha, additional, Hiippala, Anita, additional, Jokinen, Eero, additional, Jahnukainen, Timo, additional, Lohi, Jouko, additional, Pihkala, Jaana, additional, Tyni, Tiina A., additional, Carroll, Christopher J., additional, and Suomalainen, Anu, additional

Published
2018
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21. External validation of the HCM Risk-Kids model for predicting sudden cardiac death in childhood hypertrophic cardiomyopathy

Author

Chen Qu, Fernando Centeno, Sara Saberi, Joseph W. Rossano, Gabrielle Norrish, Sabine Klaassen, Anca Popoiu, Carolyn Y. Ho, Elena Cervi, Ella Field, Steve Colan, Hirokuni Yamazawa, Diala Khraiche, Chiara Marrone, Iacopo Olivotto, Samuel G. Wittekind, Christopher Semsarian, Mark W. Russell, Adam S. Helms, Perry M. Elliott, Sharlene M. Day, Juan Pablo Kaski, Jodie Ingles, Tiina Ojala, Rumana Z Omar, Gianfranco Sinagra, Sylvie Schouvey, Norrish, Gabrielle, Qu, Chen, Field, Ella, Cervi, Elena, Khraiche, Diala, Klaassen, Sabine, Ojala, Tiina H, Sinagra, Gianfranco, Yamazawa, Hirokuni, Marrone, Chiara, Popoiu, Anca, Centeno, Fernando, Schouvey, Sylvie, Olivotto, Iacopo, Day, Sharlene M, Colan, Steve, Rossano, Joseph, Wittekind, Samuel G, Saberi, Sara, Russell, Mark, Helms, Adam, Ingles, Jodie, Semsarian, Christopher, Elliott, Perry M, Ho, Carolyn Y, Omar, Rumana Z, Kaski, Juan P, University of Helsinki, Clinicum, Children's Hospital, and HUS Children and Adolescents

Subjects
Epidemiology, CHILDREN, 030204 cardiovascular system & hematology, GUIDELINES, Ventricular tachycardia, Sudden cardiac death, Cohort Studies, 0302 clinical medicine, Risk Factors, Ventricular outflow tract, 030212 general & internal medicine, Child, OUTCOMES, Sudden death, LGE, Incidence, Hypertrophic cardiomyopathy, EUROPEAN-SOCIETY, 3. Good health, Paediatric, Child, Preschool, Cohort, SURVIVAL, Cardiology, cardiovascular system, Cardiology and Cardiovascular Medicine, medicine.medical_specialty, Adolescent, DIAGNOSIS, Risk Assessment, 03 medical and health sciences, Internal medicine, medicine, Humans, cardiovascular diseases, Risk stratification, Retrospective Studies, business.industry, External validation, Infant, Cardiomyopathy, Hypertrophic, medicine.disease, PREVENTION, Confidence interval, Death, Sudden, Cardiac, Cardiovascular and Metabolic Diseases, 3121 General medicine, internal medicine and other clinical medicine, business
Abstract

Aims Sudden cardiac death (SCD) is the most common mode of death in childhood hypertrophic cardiomyopathy (HCM). The newly developed HCM Risk-Kids model provides clinicians with individualized estimates of risk. The aim of this study was to externally validate the model in a large independent, multi-centre patient cohort. Methods and results A retrospective, longitudinal cohort of 421 patients diagnosed with HCM aged 1–16 years independent of the HCM Risk-Kids development and internal validation cohort was studied. Data on HCM Risk-Kids predictor variables (unexplained syncope, non-sustained ventricular tachycardia, maximal left ventricular wall thickness, left atrial diameter, and left ventricular outflow tract gradient) were collected from the time of baseline clinical evaluation. The performance of the HCM Risk-Kids model in predicting risk at 5 years was assessed. Twenty-three patients (5.4%) met the SCD end-point within 5 years, with an overall incidence rate of 2.03 per 100 patient-years [95% confidence interval (CI) 1.48–2.78]. Model validation showed a Harrell’s C-index of 0.745 (95% CI 0.52–0.97) and Uno’s C-index 0.714 (95% 0.58–0.85) with a calibration slope of 1.15 (95% 0.51–1.80). A 5-year predicted risk threshold of ≥6% identified 17 (73.9%) SCD events with a corresponding C-statistic of 0.702 (95% CI 0.60–0.81). Conclusions This study reports the first external validation of the HCM Risk-Kids model in a large and geographically diverse patient population. A 5-year predicted risk of ≥6% identified over 70% of events, confirming that HCM Risk-Kids provides a method for individualized risk predictions and shared decision-making in children with HCM.

Published
2022

22. Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy

Author

Gabrielle Norrish, Tao Ding, Ella Field, Elena Cervi, Lidia Ziółkowska, Iacopo Olivotto, Diala Khraiche, Giuseppe Limongelli, Aris Anastasakis, Robert Weintraub, Elena Biagini, Luca Ragni, Terrence Prendiville, Sophie Duignan, Karen McLeod, Maria Ilina, Adrián Fernández, Chiara Marrone, Regina Bökenkamp, Anwar Baban, Peter Kubus, Piers E.F. Daubeney, Georgia Sarquella-Brugada, Sergi Cesar, Sabine Klaassen, Tiina H. Ojala, Vinay Bhole, Constancio Medrano, Orhan Uzun, Elspeth Brown, Ferran Gran, Gianfranco Sinagra, Francisco J. Castro, Graham Stuart, Gabriele Vignati, Hirokuni Yamazawa, Roberto Barriales-Villa, Luis Garcia-Guereta, Satish Adwani, Katie Linter, Tara Bharucha, Pablo Garcia-Pavia, Ana Siles, Torsten B. Rasmussen, Margherita Calcagnino, Caroline B. Jones, Hans De Wilde, Toru Kubo, Tiziana Felice, Anca Popoiu, Jens Mogensen, Sujeev Mathur, Fernando Centeno, Zdenka Reinhardt, Sylvie Schouvey, Costas O’Mahony, Rumana Z. Omar, Perry M. Elliott, Juan Pablo Kaski, Institut Català de la Salut, [Norrish G] Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London, United Kingdom. Institute of Cardiovascular Sciences, University College London, United Kingdom. [Ding T] Department of Statistical Science, University College London, United Kingdom. [Field E, Cervi E] Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London, United Kingdom. [Ziółkowska L] The Children’s Memorial Health Institute, Warsaw, Poland. [Olivotto I] Careggi University Hopsital, Florence, Italy. [Gran F] Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents, Norrish, Gabrielle, Ding, Tao, Field, Ella, Cervi, Elena, Ziółkowska, Lidia, Olivotto, Iacopo, Khraiche, Diala, Limongelli, Giuseppe, Anastasakis, Ari, Weintraub, Robert, Biagini, Elena, Ragni, Luca, Prendiville, Terrence, Duignan, Sophie, Mcleod, Karen, Ilina, Maria, Fernandez, Adrian, Marrone, Chiara, Bökenkamp, Regina, Baban, Anwar, Kubus, Peter, Daubeney, Piers E F, Sarquella-Brugada, Georgia, Cesar, Sergi, Klaassen, Sabine, Ojala, Tiina H, Bhole, Vinay, Medrano, Constancio, Uzun, Orhan, Brown, Elspeth, Gran, Ferran, Sinagra, Gianfranco, Castro, Francisco J, Stuart, Graham, Vignati, Gabriele, Yamazawa, Hirokuni, Barriales-Villa, Roberto, Garcia-Guereta, Lui, Adwani, Satish, Linter, Katie, Bharucha, Tara, Garcia-Pavia, Pablo, Siles, Ana, Rasmussen, Torsten B, Calcagnino, Margherita, Jones, Caroline B, De Wilde, Han, Kubo, Toru, Felice, Tiziana, Popoiu, Anca, Mogensen, Jen, Mathur, Sujeev, Centeno, Fernando, Reinhardt, Zdenka, Schouvey, Sylvie, O'Mahony, Costa, Omar, Rumana Z, Elliott, Perry M, and Kaski, Juan Pablo

Subjects
Hypertrophy, Left Ventricular/complications, sistema cardiovascular::corazón::ventrículos cardíacos [ANATOMÍA], Heart Ventricles, FEATURES, enfermedades cardiovasculares::enfermedades cardíacas::paro cardíaco::muerte súbita cardíaca [ENFERMEDADES], Cardiomyopathy, Hypertrophic/complications, CHILDREN, Heart Ventricles/diagnostic imaging, DIAGNOSIS, Cor - Hipertròfia - Complicacions, Risk Assessment, LONG-TERM OUTCOMES, 3123 Gynaecology and paediatrics, Risk Factors, death, Physiology (medical), ADOLESCENTS, human, cardiovascular diseases, humans, death, sudden, Death, Sudden, Cardiac/epidemiology, Retrospective Studies, sudden, child, IDENTIFICATION, Mort sobtada, adult, Defibrillators, Implantable/adverse effects, Cardiovascular Diseases::Heart Diseases::Cardiomyopathies::Cardiomyopathy, Hypertrophic [DISEASES], Cardiomyopathy, Hypertrophic, Cardiovascular Diseases::Heart Diseases::Heart Arrest::Death, Sudden, Cardiac [DISEASES], hypertrophic cardiomyopathy, Defibrillators, Implantable, heart ventricle, enfermedades cardiovasculares::enfermedades cardíacas::miocardiopatías::miocardiopatía hipertrófica [ENFERMEDADES], Death, Sudden, Cardiac, Cardiovascular and Metabolic Diseases, 3121 General medicine, internal medicine and other clinical medicine, RISK-FACTORS, SURVIVAL, cardiovascular system, Hypertrophy, Left Ventricular, hypertrophy, Cardiology and Cardiovascular Medicine, TASK-FORCE, Cor - Ventricle esquerre, Cardiovascular System::Heart::Heart Ventricles [ANATOMY]
Abstract

Background: Maximal left ventricular wall thickness (MLVWT) is a risk factor for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM). In adults, the severity of left ventricular hypertrophy has a nonlinear relationship with SCD, but it is not known whether the same complex relationship is seen in childhood. The aim of this study was to describe the relationship between left ventricular hypertrophy and SCD risk in a large international pediatric HCM cohort. Methods: The study cohort comprised 1075 children (mean age, 10.2 years [±4.4]) diagnosed with HCM (1–16 years) from the International Paediatric Hypertrophic Cardiomyopathy Consortium. Anonymized, noninvasive clinical data were collected from baseline evaluation and follow-up, and 5-year estimated SCD risk was calculated (HCM Risk-Kids). Results: MLVWT Z score was Z scores were associated with heart failure symptoms, unexplained syncope, left ventricular outflow tract obstruction, left atrial dilatation, and nonsustained ventricular tachycardia. One hundred twenty-two patients (71.3%) with MLVWT Z score ≥20 had coexisting risk factors for SCD. Over a median follow-up of 4.9 years (interquartile range, 2.3–9.3), 115 (10.7%) had an SCD event. Freedom from SCD event at 5 years for those with MLVWT Z scores Z score, peaking at Z score +23. The presence of coexisting risk factors had a summative effect on risk. Conclusions: In children with HCM, an inverted U-shaped relationship exists between left ventricular hypertrophy and estimated SCD risk. The presence of additional risk factors has a summative effect on risk. While MLVWT is important for risk stratification, it should not be used either as a binary variable or in isolation to guide implantable cardioverter defibrillator implantation decisions in children with HCM.

Published
2022
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23. Fetal heart failure.

Author

Ojala TH and Hornberger LK

Subjects
Echocardiography, Female, Fetal Diseases diagnostic imaging, Fetal Diseases drug therapy, Fetal Diseases physiopathology, Fetal Heart diagnostic imaging, Heart Defects, Congenital complications, Heart Defects, Congenital diagnostic imaging, Heart Defects, Congenital physiopathology, Heart Failure diagnostic imaging, Heart Failure drug therapy, Heart Failure physiopathology, Humans, Hydrops Fetalis diagnostic imaging, Hydrops Fetalis etiology, Hydrops Fetalis physiopathology, Myocardial Contraction, Pregnancy, Ultrasonography, Prenatal, Fetal Diseases etiology, Fetal Heart physiopathology, Heart Failure etiology
Abstract

Clinical fetal heart failure occurs in conditions associated with increasing left and right atrial filling and/or central venous pressures and manifests as right heart failure with the development of pericardial and pleural effusions, ascites and peripheral and placental edema. Fetal heart failure may occur in primary myocardial disease, in presence of the extracardiac pathology impacting the loading conditions of the fetal heart and in conditions associated with secondary myocardial dysfunction including structural heart defects, bradycardia or tachycardia. This review summarizes recent literature of the understanding of the normal fetal circulation and the pathogenic mechanisms responsible for the evolution of fetal heart failure, strategies for fetal and perinatal management of fetal heart failure, and future directions that may lead to novel strategies to treat affected pregnancies and.

Published
2010
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