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45 results on '"Regitz-Zagrosek, Vera"'

1. Cardiovascular health‐related quality of life in cancer: a prospective study comparing the ESC HeartQoL and EORTC QLQ‐C30 questionnaire

Author

Anker, Markus S., primary, Potthoff, Sophia K., additional, Lena, Alessia, additional, Porthun, Jan, additional, Hadzibegovic, Sara, additional, Evertz, Ruben, additional, Denecke, Corinna, additional, Fröhlich, Ann‐Kathrin, additional, Sonntag, Frederike, additional, Regitz‐Zagrosek, Vera, additional, Rosen, Stuart D., additional, Lyon, Alexander R., additional, Lüscher, Thomas F., additional, Spertus, John A., additional, Anker, Stefan D., additional, Karakas, Mahir, additional, Bullinger, Lars, additional, Keller, Ulrich, additional, Landmesser, Ulf, additional, Butler, Javed, additional, and von Haehling, Stephan, additional

Published
2023
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4. Hypertensive disorders in women with peripartum cardiomyopathy: insights from the ESC EORP PPCM Registry

Author

Jackson, Alice M., Petrie, Mark C., Frogoudaki, Alexandra, Laroche, Cécile, Gustafsson, Finn, Ibrahim, Bassem, Mebazaa, Alexandre, Johnson, Mark R., Seferovic, Petar M., Regitz‐Zagrosek, Vera, Mbakwem, Amam, Böhm, Michael, Prameswari, Hawani Sasmaya, Abdel Gawad, Doaa Ahmed Fouad, Goland, Sorel, Damasceno, Albertino, Karaye, Kamilu, Farhan, Hasan Ali, Hamdan, Righab, Maggioni, Aldo P., Sliwa, Karen, Bauersachs, Johann, Meer, Peter, Favaloro, R., Favaloro, L., Carballo, M., Peradejordi, M., Renedo, M.F., Absi, D., Bertolotti, A., Ratto, R., Talavera, M.L., Gomez, R., Lockwood, S., Barton, T., Austin, M‐A., Arstall, M., Aldridge, E., Chow, Y.Y., Dekker, G., Mahadavan, G., Rose, J., Wittwer, M., Hoppe, U., Sandhofer, A., Bahshaliyev, A., Gasimov, Z., Babayev, A., Niftiyev, P., Hasanova, I., AlBannay, R., AlHaiki, W., Husain, A., Mahdi, N., Kurlianskaya, A., Lukyanchyk, M., Shatova, O., Troyanova‐Shchutskaia, T., Anghel, L., De Pauw, M., Gevaert, S., De Backer, J., De Hosson, M., Vervaet, P., Timmermans, P.J., Janssen, A., Yameogo, N.V., Kagambega, L.J., Cumyn, A., Caron, N., Cote, A‐M., Sauve, N., Nkulu, D. Ngoy, Lez, D. Malamba, Yolola, E. Ngoy, Krejci, J., Poloczkova, H., Ersboll, A., Gustafsson, F., Elrakshy, Y., Hassanein, M., Hammad, B., Eldin, O. Nour, Fouad, D., Salman, S., Zareh, Z., Abdeall, D., Elenin, H. Abo, Ebaid, H., El Nagar, A., Farag, S., Saed, M., El Rahman, Y H Abd, Ibrahim, B.S., Abdelhamid, M., Hanna, R.N. W., Youssef, G., Awad, R., Botrous, O.L. I., Halawa, S. Ibrahim, Nasr, G., Saad, A., El Tahlawi, M., Abdelbaset, M., El‐saadawy, M., El‐shorbagy, A., Shalaby, G., Anttonen, O., Tolppanen, H., Hamekoski, S., Menez, T., Noel, A., Lamblin, N., Mouquet, F., Coulon, C., Groote, P., Langlois, S., Schurtz, G., Cohen‐Solal, A., Mebazaa, A., Fournier, M‐C., Louadah, B., Akrout, N., Logeart, D., Leurent, G., Jovanova, S., Arnaudova‐Dezulovicj, F., Livrinova, V., Bauersachs, J., Hilfiker‐Kleiner, D., Berliner, D., Jungesblut, M., Koenig, T., Moulig, V.A., Pfeffer, T.J., Böhm, M., Kindermann, I., Schwarz, V., Schmitt, C., Swojanowsky, P., Pettit, S., Petrie, M., McAdam, M., Patton, D., Bakhai, A., Krishnamurthy, V., Lim, L., Clifford, P., Bowers, N., Clark, A. L., Witte, K., Cullington, D., Oliver, J., Simms, A., Mcginlay, M., McDonagh, T., Shah, A. M., Amin‐Youssef, G., De Courcey, J., Martin, K., Shaw, S., Vause, S., Wallace, S., Malin, G., Wick, C., Nikolaou, M., Rentoukas, I., Chinchilla, H., Andino, L., Iyengar, S., Chandra, S., Yadav, D.K., Babu, R. Ravi, Singh, A.K., Kumar, S., Karunamay, B.B., Chaubey, S.K., Dhiman, S.R., Jha, V.C., Singh, S.K., Kodati, D., Dasari, R., Sultana, S., Dewi, T.I., Prameswari, H. Sasmaya, Al‐Farhan, H.A., Al‐Hussein, A., Yaseen, I.F., Al‐Azzawi, Falah, Al‐Saedi, Ghazi, Mahmood, G.M., Mohammed, M.K., Ridha, A.F., Shotan, A., Vazan, A., Goland, S., Biener, M., Senni, M., Grosu, A., Martin, E., Esposti, D. Degli, Bacchelli, S., Borghi, C., Metra, M., Sciatti, E., Orabona, R., Sani, F., Brunetti, N.D., Sinagra, G., Bobbo, M., D'Agata Mottolese, B., Gesuete, V., Rakar, S., Ramani, F., Kamiya, C., Barasa, A., Ngunga, M., Bajraktari, G., Hyseni, V., Lleshi, D., Pllana, E., Pllana, T., Noruzbaeva, A., Ismailov, F., Mirrakhimov, E., Abilova, S., Lunegova, O., Kerimkulova, A., Osmankulova, G., Duishenalieva, M., Kurmanbekova, B., Turgunov, M., Mamasaidova, S., Bektasheva, E., Kavoliuniene, A., Muckiene, G., Vaitiekiene, A., Celutkiene, J., Balkevicine, L., Barysiene, J., Chee, K.H., Damasceno, A., Machava, M., Veldhuisen, D.J., Meer, P., Berg, M., Roos‐Hesselink, J., Hagen, I., Baris, L., Hurtado, P., Ezeonu, P., Isiguzo, G., Obeka, N., Onoh, R., Asogwa, F., Onyema, C., Otti, K., Ojji, D., Odili, A., Nwankwo, A., Karaye, K., Ishaq, N., Sanni, B., Abubakar, H., Mohammed, B., Sani, M., Kehinde, M., Mbakwem, A., Afolabi, B., Amadi, C., Kilasho, M., Qamar, N., Furnaz, S., Gurmani, S., Kayani, M.G.A. Mahmood, Munir, R., Hussain, S., Malik, S., Mumtaz, S., Saligan, J.R., Rubis, P., Biernacka‐Fijalkowska, B., Lesniak‐Sobelga, A., Wisniowska‐Smialek, S., Kasprzak, J.D., Lelonek, M., Zycinski, P., Jankowski, L., Grajek, S., Oko‐Sarnowska, Z., Rutkowska, A. Bartczak, Kaluzna‐Oleksy, M., Plaskota, K., Demkow, M., Dzielinska, Z., Henzel, J., Kryczka, K., Moiseeva, O., Irtyuga, O., Karelkina, E., Zazerskaya, I., Seferovic, P.M., Milinkovic, I., Živkovic, I., Ristic, A.D., Milasinovic, D., Kong, W. KF, Tan, L.K., Tan, J.L., Thain, S., Poh, K.K., Yip, J., Sliwa, K., Azibani, F., Hovelmann, J., Viljoen, C., Briton, O., Zamora, E., Orcajo, N. Alonso, Carbonell, R., Pascual, C., Muncharaz, J. Farre, Alonso‐Pulpon, L., Cubero, J. Segovia, Urquia, M. Taibo, Garcia‐Pavia, P., Gomez‐Bueno, M., Cobo‐Marcos, M., Briceno, A., Galvan, E. De Teresa, Garcia‐Pinilla, J.M., Robles‐Mezcua, A., Morcillo‐Hildalgo, L., Elbushi, A., Suliman, A., Ahamed, N., Jazzar, K., Murtada, M., Schaufelberger, M., Goloskokova, V., Hullin, R., Yarol, N., Arrigo, M., Cavusoglu, Y., Eraslan, S., Fak, A.S., Enar, S. Catirli, Sarac, L., Cankurtaran, B., Gumrukcuoglu, H., Ozturk, F., Omagino, J., Mondo, C., Lwabi, P., Ingabire, P., Nabbaale, J., Nyakoojo, W., Okello, E., Sebatta, E., Ssinabulya, I., Atukunda, E., Kitooleko, S., Semu, T., Salih, B.T., Komaranchath, A.M., Almahmeed, W.A.R., Gerges, F., Farook, F.S. Mohamed, Albakshy, F., Mahmood, N., Wani, S., Freudenberger, R., Islam, N., Quinones, J., Sundlof, D., Beitler, C., Centolanza, L., Cornell, K., Huffaker, S., Matos, L., Marzo, K., Paruchuri, V., Patel, D., Abdullaev, T., Alyavi, B., Mirzarakhimova, S., Tsoy, I., Bekbulatova, R., and Uzokov, J.

Abstract

Aims: \ud Hypertensive disorders occur in women with peripartum cardiomyopathy (PPCM). How often hypertensive disorders co-exist, and to what extent they impact outcomes, is less clear. We describe differences in phenotype and outcomes in women with PPCM with and without hypertensive disorders during pregnancy.\ud \ud Methods: \ud The European Society of Cardiology PPCM Registry enrolled women with PPCM from 2012-2018. Three groups were examined: 1) women without hypertension (‘PPCM-noHTN’); 2) women with hypertension but without pre-eclampsia (‘PPCM-HTN’); 3) women with pre-eclampsia (‘PPCM-PE’). Maternal (6-month) and neonatal outcomes were compared.\ud \ud Results: \ud Of 735 women included, 452 (61.5%) had PPCM-noHTN, 99 (13.5%) had PPCM-HTN and 184 (25.0%) had PPCM-PE. Compared to women with PPCM-noHTN, women with PPCM-PE had more severe symptoms (NYHA IV in 44.4% and 29.9%, p

Published
2021

5. Risk stratification and management of women with cardiomyopathy/heart failure planning pregnancy or presenting during/after pregnancy: a position statement from the Heart Failure Association of the European Society of Cardiology Study Group on Peripartum Cardiomyopathy

Author

Sliwa, Karen, Meer, Peter, Petrie, Mark C., Frogoudaki, Alexandra, Johnson, Mark R., Hilfiker‐Kleiner, Denise, Hamdan, Righab, Jackson, Alice M., Ibrahim, Bassem, Mbakwem, Amam, Tschöpe, Carsten, Regitz‐Zagrosek, Vera, Omerovic, Elmir, Roos‐Hesselink, Jolien, Gatzoulis, Michael, Tutarel, Oktay, Price, Susanna, Heymans, Stephane, Coats, Andrew JS, Müller, Christian, Chioncel, Ovidiu, Thum, Thomas, Boer, Rudolf A., Jankowska, Ewa, Ponikowski, Piotr, Lyon, Alexander R., Rosano, Guiseppe, Seferovic, Petar M., and Bauersachs, Johann

Abstract

This position paper focusses on the pathophysiology, diagnosis and management of women diagnosed with a cardiomyopathy, or at risk of heart failure (HF), who are planning to conceive or present with (de novo or previously unknown) HF during or after pregnancy. This includes the heterogeneous group of heart muscle diseases such as hypertrophic, dilated, arrhythmogenic right ventricular and non-classified cardiomyopathies, left ventricular non-compaction, peripartum cardiomyopathy, Takotsubo syndrome, adult congenital heart disease with HF, and patients with right HF. Also, patients with a history of chemo-/radiotherapy for cancer or haematological malignancies need specific pre-, during and post-pregnancy assessment and counselling. We summarize the current knowledge about pathophysiological mechanisms, including gene mutations, clinical presentation, diagnosis, and medical and device management, as well as risk stratification. Women with a known diagnosis of a cardiomyopathy will often require continuation of drug therapy, which has the potential to exert negative effects on the foetus. This position paper assists in balancing benefits and detrimental effects.

Published
2021

7. Normative reference data, determinants, and clinical implications of right atrial reservoir function in women assessed by 2D speckle-tracking echocardiography

Author

Brand, Anna, primary, Bathe, Marny, additional, Hübscher, Anne, additional, Baldenhofer, Gerd, additional, Hättasch, Robert, additional, Seeland, Ute, additional, Oertelt-Prigione, Sabine, additional, Rücke, Mirjam, additional, Regitz-Zagrosek, Vera, additional, Stangl, Karl, additional, Dreger, Henryk, additional, Stangl, Verena, additional, and Knebel, Fabian, additional

Published
2018
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8. Current management of patients with severe acute peripartum cardiomyopathy: practical guidance from the Heart Failure Association of the European Society of Cardiology Study Group on peripartum cardiomyopathy

Author

Bauersachs, Johann, Arrigo, Mattia, Hilfiker-Kleiner, Denise, Veltmann, Christian, Coats, Andrew J.S., Crespo-Leiro, Maria G., De Boer, Rudolf A., van der Meer, Peter, Maack, Christoph, Mouquet, Frederic, Petrie, Mark C., Piepoli, Massimo F., Regitz-Zagrosek, Vera, Schaufelberger, Maria, Seferovic, Petar, Tavazzi, Luigi, Ruschitzka, Frank, Mebazaa, Alexandre, Sliwa, Karen, University of Zurich, Bauersachs, Johann, Cardiovascular Centre (CVC), and Restoring Organ Function by Means of Regenerative Medicine (REGENERATE)

Subjects
Peripartum cardiomyopathy, Medical therapy, Initial management, MEMBRANE-OXYGENATION, WORKING GROUP, Acute heart failure, 610 Medicine & health, INTRAAORTIC BALLOON SUPPORT, Acute heart failure •Initial management • Medical therapy • Mechanical circulatory support • Sudden cardiac death, Post-partum cardiomyography, 2705 Cardiology and Cardiovascular Medicine, ASSIST DEVICE, CLINICAL-TRIAL, Sudden cardiac death, MYOCARDIAL-INFARCTION, Post-partum cardiomyopathy, LEFT-VENTRICULAR FUNCTION, Mechanical circulatory support, CARDIOGENIC-SHOCK, 10209 Clinic for Cardiology, CARDIAC RESYNCHRONIZATION THERAPY, Cardiology and Cardiovascular Medicine, TASK-FORCE, Sedden cardiac death
Abstract

HFA practical guidance

Published
2016

9. Clinical characteristics of patients from the worldwide registry on peripartum cardiomyopathy (PPCM)

Author

Sliwa, Karen, primary, Mebazaa, Alexandre, additional, Hilfiker‐Kleiner, Denise, additional, Petrie, Mark C., additional, Maggioni, Aldo P., additional, Laroche, Cecile, additional, Regitz‐Zagrosek, Vera, additional, Schaufelberger, Maria, additional, Tavazzi, Luigi, additional, van der Meer, Peter, additional, Roos‐Hesselink, Jolien W., additional, Seferovic, Petar, additional, van Spandonck‐Zwarts, Karin, additional, Mbakwem, Amam, additional, Böhm, Michael, additional, Mouquet, Frederic, additional, Pieske, Burkert, additional, Hall, Roger, additional, Ponikowski, Piotre, additional, and Bauersachs, Johann, additional

Published
2017
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16. EURObservational Research Programme: a worldwide registry on peripartum cardiomyopathy (PPCM) in conjunction with the Heart Failure Association of the European Society of Cardiology Working Group on PPCM

Author

Sliwa, Karen, primary, Hilfiker‐Kleiner, Denise, additional, Mebazaa, Alexandre, additional, Petrie, Mark C., additional, Maggioni, Aldo P., additional, Regitz‐Zagrosek, Vera, additional, Schaufelberger, Maria, additional, Tavazzi, Luigi, additional, van Veldhuisen, Dirk J., additional, Roos‐Hesslink, Jolien W., additional, Shah, Ajay J., additional, Seferovic, Petar M., additional, Elkayam, Uri, additional, van Spaendonck‐Zwarts, Karin, additional, Bachelier‐Walenta, Katrin, additional, Mouquet, Frederic, additional, Kraigher‐Krainer, Elisabeth, additional, Hall, Roger, additional, Ponikowski, Piotr, additional, McMurray, John J. V., additional, and Pieske, Burkert, additional

Published
2014
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20. Current state of knowledge on aetiology, diagnosis, management, and therapy of peripartum cardiomyopathy: a position statement from the Heart Failure Association of the European Society of Cardiology Working Group on peripartum cardiomyopathy

Author

Sliwa, Karen, primary, Hilfiker‐Kleiner, Denise, additional, Petrie, Mark C., additional, Mebazaa, Alexandre, additional, Pieske, Burkert, additional, Buchmann, Eckhart, additional, Regitz‐Zagrosek, Vera, additional, Schaufelberger, Maria, additional, Tavazzi, Luigi, additional, van Veldhuisen, Dirk J., additional, Watkins, Hugh, additional, Shah, Ajay J., additional, Seferovic, Petar M., additional, Elkayam, Uri, additional, Pankuweit, Sabine, additional, Papp, Zoltan, additional, Mouquet, Frederic, additional, and McMurray, John J.V., additional

Published
2010
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22. Up‐regulation of PPARγ in myocardial infarction

Author

Fliegner, Daniela, primary, Westermann, Dirk, additional, Riad, Alexander, additional, Schubert, Carola, additional, Becher, Eva, additional, Fielitz, Jens, additional, Tschöpe, Carsten, additional, and Regitz‐Zagrosek, Vera, additional

Published
2008
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23. Altered melusin expression in the hearts of aortic stenosis patients

Author

Brokat, Sebastian, primary, Thomas, Jenny, additional, Herda, Lars R., additional, Knosalla, Christoph, additional, Pregla, Reinhard, additional, Brancaccio, Mara, additional, Accornero, Federica, additional, Tarone, Guido, additional, Hetzer, Roland, additional, and Regitz-Zagrosek, Vera, additional

Published
2007
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25. Stabilization of hypoxia inducible factor rather than modulation of collagen metabolism improves cardiac function after acute myocardial infarction in rats

Author

Philipp, Sebastian, primary, Jürgensen, Jan Steffen, additional, Fielitz, Jens, additional, Bernhardt, Wanja M., additional, Weidemann, Alexander, additional, Schiche, Astrid, additional, Pilz, Bernhard, additional, Dietz, Rainer, additional, Regitz-Zagrosek, Vera, additional, Eckardt, Kai-Uwe, additional, and Willenbrock, Roland, additional

Published
2006
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31. Cardiotrophin

Author

Regitz‐Zagrosek, Vera, primary, Warnecke, Christina, additional, Erdmann, Jeanette, additional, and Hetzer, Roland, additional

Published
2002
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42. Hypertensive disorders in women with peripartum cardiomyopathy: insights from the ESC EORP PPCM Registry.

Author

Jackson AM, Petrie MC, Frogoudaki A, Laroche C, Gustafsson F, Ibrahim B, Mebazaa A, Johnson MR, Seferovic PM, Regitz-Zagrosek V, Mbakwem A, Böhm M, Prameswari HS, Fouad DA, Goland S, Damasceno A, Karaye K, Farhan HA, Hamdan R, Maggioni AP, Sliwa K, Bauersachs J, and van der Meer P

Subjects
Female, Humans, Peripartum Period, Pregnancy, Registries, Stroke Volume, Ventricular Function, Left, Cardiomyopathies complications, Cardiomyopathies diagnosis, Cardiomyopathies epidemiology, Heart Failure complications, Hypertension, Pregnancy-Induced epidemiology, Pregnancy Complications, Cardiovascular
Abstract

Aims: Hypertensive disorders occur in women with peripartum cardiomyopathy (PPCM). How often hypertensive disorders co-exist, and to what extent they impact outcomes, is less clear. We describe differences in phenotype and outcomes in women with PPCM with and without hypertensive disorders during pregnancy., Methods and Results: The European Society of Cardiology EURObservational Research Programme PPCM Registry enrolled women with PPCM from 2012-2018. Three groups were examined: (i) women without hypertension (PPCM-noHTN); (ii) women with hypertension but without pre-eclampsia (PPCM-HTN); (iii) women with pre-eclampsia (PPCM-PE). Maternal (6-month) and neonatal outcomes were compared. Of 735 women included, 452 (61.5%) had PPCM-noHTN, 99 (13.5%) had PPCM-HTN and 184 (25.0%) had PPCM-PE. Compared to women with PPCM-noHTN, women with PPCM-PE had more severe symptoms (New York Heart Association class IV in 44.4% vs. 29.9%, P < 0.001), more frequent signs of heart failure (pulmonary rales in 70.7% vs. 55.4%, P = 0.002), a higher baseline left ventricular ejection fraction (LVEF) (32.7% vs. 30.7%, P = 0.005) and a smaller left ventricular end-diastolic diameter (57.4 ± 6.7 mm vs. 59.8 ± 8.1 mm, P = 0.001). There were no differences in the frequencies of death from any cause, rehospitalization for any cause, stroke, or thromboembolic events. Compared to women with PPCM-noHTN, women with PPCM-PE had a greater likelihood of left ventricular recovery (LVEF ≥ 50%) (adjusted odds ratio 2.08, 95% confidence interval 1.21-3.57) and an adverse neonatal outcome (composite of termination, miscarriage, low birth weight or neonatal death) (adjusted odds ratio 2.84, 95% confidence interval 1.66-4.87)., Conclusion: Differences exist in phenotype, recovery of cardiac function and neonatal outcomes according to hypertensive status in women with PPCM., (© 2021 The Authors. European Journal of Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.)

Published
2021
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43. Risk stratification and management of women with cardiomyopathy/heart failure planning pregnancy or presenting during/after pregnancy: a position statement from the Heart Failure Association of the European Society of Cardiology Study Group on Peripartum Cardiomyopathy.

Author

Sliwa K, van der Meer P, Petrie MC, Frogoudaki A, Johnson MR, Hilfiker-Kleiner D, Hamdan R, Jackson AM, Ibrahim B, Mbakwem A, Tschöpe C, Regitz-Zagrosek V, Omerovic E, Roos-Hesselink J, Gatzoulis M, Tutarel O, Price S, Heymans S, Coats AJS, Müller C, Chioncel O, Thum T, de Boer RA, Jankowska E, Ponikowski P, Lyon AR, Rosano G, Seferovic PM, and Bauersachs J

Subjects
Adult, Female, Humans, Peripartum Period, Pregnancy, Risk Assessment, Cardiology, Cardiomyopathies, Heart Defects, Congenital, Heart Failure, Pregnancy Complications, Cardiovascular
Abstract

This position paper focusses on the pathophysiology, diagnosis and management of women diagnosed with a cardiomyopathy, or at risk of heart failure (HF), who are planning to conceive or present with (de novo or previously unknown) HF during or after pregnancy. This includes the heterogeneous group of heart muscle diseases such as hypertrophic, dilated, arrhythmogenic right ventricular and non-classified cardiomyopathies, left ventricular non-compaction, peripartum cardiomyopathy, Takotsubo syndrome, adult congenital heart disease with HF, and patients with right HF. Also, patients with a history of chemo-/radiotherapy for cancer or haematological malignancies need specific pre-, during and post-pregnancy assessment and counselling. We summarize the current knowledge about pathophysiological mechanisms, including gene mutations, clinical presentation, diagnosis, and medical and device management, as well as risk stratification. Women with a known diagnosis of a cardiomyopathy will often require continuation of drug therapy, which has the potential to exert negative effects on the foetus. This position paper assists in balancing benefits and detrimental effects., (© 2021 The Authors. European Journal of Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.)

Published
2021
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44. Current management of patients with severe acute peripartum cardiomyopathy: practical guidance from the Heart Failure Association of the European Society of Cardiology Study Group on peripartum cardiomyopathy.

Author

Bauersachs J, Arrigo M, Hilfiker-Kleiner D, Veltmann C, Coats AJ, Crespo-Leiro MG, De Boer RA, van der Meer P, Maack C, Mouquet F, Petrie MC, Piepoli MF, Regitz-Zagrosek V, Schaufelberger M, Seferovic P, Tavazzi L, Ruschitzka F, Mebazaa A, and Sliwa K

Subjects
Acute Disease, Clinical Protocols, Female, Humans, Pregnancy, Cardiomyopathies therapy, Pregnancy Complications, Cardiovascular therapy, Puerperal Disorders therapy
Published
2016
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45. Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure.

Author

Waldmüller S, Erdmann J, Binner P, Gelbrich G, Pankuweit S, Geier C, Timmermann B, Haremza J, Perrot A, Scheer S, Wachter R, Schulze-Waltrup N, Dermintzoglou A, Schönberger J, Zeh W, Jurmann B, Brodherr T, Börgel J, Farr M, Milting H, Blankenfeldt W, Reinhardt R, Özcelik C, Osterziel KJ, Loeffler M, Maisch B, Regitz-Zagrosek V, Schunkert H, and Scheffold T

Subjects
Cardiomyopathy, Dilated epidemiology, Cardiomyopathy, Hypertrophic epidemiology, Genetic Predisposition to Disease, Humans, Mutation, Phenotype, Cardiomyopathy, Dilated genetics, Cardiomyopathy, Hypertrophic genetics
Abstract

Aims: Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) can both be due to mutations in the genes encoding β-myosin heavy chain (MYH7) or cardiac myosin-binding protein C (MYBPC3). The aim of the present study was to determine the prevalence and spectrum of mutations in both genes in German HCM and DCM patients and to establish novel genotype-to-phenotype correlations., Methods and Results: Coding exons and intron flanks of the two genes MYH7 and MYBPC3 of 236 patients with HCM and 652 patients with DCM were sequenced by conventional and array-based means. Clinical records were established following standard protocols. Mutations were detected in 41 and 11% of the patients with HCM and DCM, respectively. Differences were observed in the frequency of splice site and frame-shift mutations in the gene MYBPC3, which occurred more frequently (P< 0.02, P< 0.001, respectively) in HCM than in DCM, suggesting that cardiac myosin-binding protein C haploinsufficiency predisposes to hypertrophy rather than to dilation. Additional novel genotype-to-phenotype correlations were found in HCM, among these a link between MYBPC3 mutations and a particularly large thickness of the interventricular septum (P= 0.04 vs. carriers of a mutation in MYH7). Interestingly, this correlation and a link between MYH7 mutations and a higher degree of mitral valve regurgitation held true for both HCM and DCM, indicating that the gene affected by a mutation may determine the magnitude of structural and functional alterations in both HCM and DCM., Conclusion: A large clinical-genetic study has unravelled novel genotype-to-phenotype correlations in HCM and DCM which warrant future investigation of both the underlying mechanisms and the prognostic use.

Published
2011
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