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1. 'Idiopathic' pulmonary arterial hypertension in early infancy: Excluding NFU1 deficiency

Author

Paquay Stephanie, Barrea Catherine, Sluysmans Thierry, Vachiery Jean-Luc, Loeckx Isabelle, Seneca Sara, Vô Christophe, and Nassogne Marie-Cecile

Subjects
Hyperglycinemia, lipoic acid, neurological regression, NFU1, pulmonary hypertension, Medicine, Pediatrics, RJ1-570, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

NFU1 deficiency is a rare metabolic disorder affecting iron–sulfur cluster synthesis, an essential pathway for lipoic acid-dependent enzymatic activities and mitochondrial respiratory chain complexes. It is a little-known cause of pulmonary arterial hypertension (PAH), while PAH is a prominent feature of the disease. We herein report on a female infant diagnosed as having idiopathic PAH since 1 month of age, who did not respond to bosentan plus sildenafil. NFU1 deficiency was only suggested and confirmed at 10 months of age when she demonstrated neurological deterioration along with high glycine levels in body fluids. Unexplained PAH in early infancy should prompt clinicians to perform amino acid chromatography searching for high glycine levels. Early recognition will avoid further invasive procedures and enable appropriate genetic counseling to be offered. No effective treatment is currently able to prevent the fatal course of this metabolic condition.

Published
2019
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8. Acute Cardiovascular Manifestations in 286 Children With Multisystem Inflammatory Syndrome Associated With COVID-19 Infection in Europe

Author

Valverde, Israel, primary, Singh, Yogen, additional, Sanchez-de-Toledo, Joan, additional, Theocharis, Paraskevi, additional, Chikermane, Ashish, additional, Di Filippo, Sylvie, additional, Kuciñska, Beata, additional, Mannarino, Savina, additional, Tamariz-Martel, Amalia, additional, Gutierrez-Larraya, Federico, additional, Soda, Giridhar, additional, Vandekerckhove, Kristof, additional, Gonzalez-Barlatay, Francisco, additional, McMahon, Colin Joseph, additional, Marcora, Simona, additional, Napoleone, Carlo Pace, additional, Duong, Phuoc, additional, Tuo, Giulia, additional, Deri, Antigoni, additional, Nepali, Gauri, additional, Ilina, Maria, additional, Ciliberti, Paolo, additional, Miller, Owen, additional, Iriart, Xavier, additional, Hubrechts, Jelena, additional, Kuipers, Irene Mariette, additional, Sousa, Ana R., additional, Donti, Andrea, additional, Sharpe, Abigail, additional, Reinhardt, Zdenka, additional, Cairello, Francesca, additional, De Wolf, Daniel, additional, Vieira, Marisa, additional, Lazea, Cecilia, additional, Gran, Ferran, additional, Medrano-Lopez, Constancio, additional, Ortiz-Garrido, Almudena, additional, Vukomanovic, Vladislav, additional, Brent, Bernadette Elisabeth, additional, Milanesi, Ornella, additional, Dewals, Wendy, additional, Manso, Begoña, additional, Valsangiacomo-Buchel, Emanuela, additional, Francisco, Andreia, additional, Seghaye, Marie-Christine, additional, Loeckx, Isabelle, additional, Rodriguez-Gonzalez, Moises, additional, ReyGarcía, Susana Maria, additional, Ziesenitz, Victoria C, additional, Bordin, Giulia, additional, Doros, Gabriela, additional, Grangl, Gernot, additional, Fadl, Shalan Uaid, additional, Perminow, Karl Viktor, additional, Centeno, Fernando, additional, Pinto, Fatima, additional, Niemelä, Jussi, additional, Kanthimathinathan, Hari Krishnan, additional, Randanne, Paula Cecilia, additional, Niszczota, Cezary, additional, Zuccotti, Gian Vincenzo, additional, Gordillo, Inés Leoz, additional, Obeyasekhara, Madhu, additional, Armstrong, Catherine, additional, Butler, Karina, additional, Ciuffreda, Matteo, additional, Villar, Anna Maria, additional, Pappula, Naga, additional, Caorsi, Roberta, additional, Singh, Davinder, additional, Durairaj, Saravanan, additional, McLeod, Karen, additional, Calcagni, Giulio, additional, Quizad, Youssef, additional, Gewillig, Marc, additional, Kuijpers, Taco Willem, additional, Ataide, Rita, additional, Fabi, Marianna, additional, Bharucha, Tara, additional, Abbas, Khushnood, additional, Magrass, Silvia Alessandra, additional, Wong, James, additional, Iacob, Daniela, additional, Balcells, Joan, additional, GilVillanueva, Nuria, additional, Cuenca-Peiro, Victorio, additional, Cerovi, Ivana, additional, Sarfatt, Avishay, additional, Zaqout, Mahmoud, additional, Sanchez-Valderrabanos, Elia, additional, Kelly-Geyer, Janet, additional, Diogo, Faim, additional, Cajgfinger, Nathalie, additional, Françoise, Mascart, additional, Rueda-Nuñez, Fernando, additional, Gorenflo, Matthias, additional, Grison, Alessandra, additional, Mihailov, Delia, additional, Koestenberger, Martin, additional, Alcalde, Carlos, additional, Trigo, Conceiçao, additional, Arola, Anita, additional, and Hanseus, Katarina, additional

Published
2021
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9. Acute Cardiovascular Manifestations in 286 Children with Multisystem Inflammatory Syndrome Associated with COVID-19 Infection in Europe

Author

Valverde, Israel, primary, Singh, Yogen, additional, Sanchez-de-Toledo, Joan, additional, Theocharis, Paraskevi, additional, Chikermane, Ashish, additional, Di Filippo, Sylvie, additional, Kucinska, Beata, additional, Mannarino, Savina, additional, Tamariz-Martel, Amalia, additional, Gutierrez-Larraya, Federico, additional, Soda, Giridhar, additional, Vandekerckhove, Kristof, additional, Gonzalez Barlatay, Francisco, additional, McMahon, Colin Joseph, additional, Marcora, Simona Anna, additional, Napoleone, Carlo Pace, additional, Duong, Phuoc, additional, Tuo, Giulia, additional, Deri, Antigoni, additional, Nepali, Gauri, additional, Ilina, Maria, additional, Ciliberti, Paolo, additional, Iriart, Xavier, additional, Hubrechts, Jelena, additional, Kuipers, Irene Mariette, additional, Sousa, Ana R., additional, Donti, Andrea, additional, Sharpe, Abigail, additional, Reinhardt, Zdenka, additional, Cairello, Francesca, additional, De Wolf, Daniel, additional, Vieira, Marisa, additional, Lazea, Cecilia, additional, Gran, Ferran, additional, Medrano-Lopez, Constancio, additional, Ortiz-Garrido, Almudena, additional, Vukomanovic, Vladislav, additional, Brent, Bernadette Elisabeth, additional, Milanesi, Ornella, additional, Dewals, Wendy, additional, Manso, Begoña, additional, Valsangiacomo-Buchel, Emanuela, additional, Francisco, Andreia, additional, Seghaye, Marie-Christine, additional, Loeckx, Isabelle, additional, Rodriguez-Gonzalez, Moises, additional, Rey-García, Susana Maria, additional, Ziesenitz, Victoria C., additional, Bordin, Giulia, additional, Doros, Gabriela, additional, Grangl, Gernot, additional, Fadl, Shalan Uaid, additional, Perminow, Karl Viktor, additional, Centeno, Fernando, additional, Pinto, Fatima, additional, Niemelä, Jussi, additional, and Miller, Owen, additional

Published
2020
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12. Efficacy of treatment with belladonna in children with severe pallid breath-holding spells.

Author

UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service de cardiologie pédiatrique, UCL - (SLuc) Service de pédiatrie générale, Gonzalez, Maria Cecilia, Bottosso, Adrien, Loeckx, Isabelle, Mascart, Françoise, Dembour, Guy, François, Geneviève, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service de cardiologie pédiatrique, UCL - (SLuc) Service de pédiatrie générale, Gonzalez, Maria Cecilia, Bottosso, Adrien, Loeckx, Isabelle, Mascart, Françoise, Dembour, Guy, and François, Geneviève

Abstract

IntroductionPallid breath-holding spells are common and dramatic forms of recurrent syncope in infancy. They are very stressful despite their harmless nature and sometimes require treatment. OBJECTIVE: The objective of this study was to evaluate the efficacy of belladonna in severe breath-holding spells. METHODS: This is a multicentric, retrospective series involving 84 children with severe pallid breath-holding spells. Inclusion criteria were >1 pallid breath-holding spell with loss of consciousness, paediatric cardiology evaluation, and follow-up >6 months. In total, 45 patients received belladonna and 39 patients did not receive treatment, according to physician preference. RESULTS: Mean age was 11 months, ranging from 4 to 18 months, with 54% of males. Mean spell duration was 30 seconds (interquartile range 15, 60), and the frequency was four episodes per month (interquartile range 0.5, 6.5). Comparison of baseline characteristics between groups showed similar demographics, with the single difference in the severity of the spells, being more severe in the treated group. When comparing the treated and non-treated groups at 3 months, only two (5%) patients had a complete remission in the first group, whereas 20 (44%) had remission in the belladonna group (p<0.01). When considering the characteristics of the spells before and after the initiation of treatment with belladonna, 75% of the patients presented a positive response, with 44% of the patients presenting with complete resolution of the spells (p<0.01). No major adverse reaction was reported, with only 5% minor adverse events. CONCLUSIONS: Belladonna is highly effective to alleviate severe breath-holding spells in young children, without any major adverse effects.

Published
2018

14. Idiopathic pulmonary arterial hypertension in infancy: Rule out NFU1 deficiency

Author

UCL - (SLuc) Service de neurologie pédiatrique, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Paquay, Stéphanie, Sluysmans, Thierry, Loeckx, Isabelle, Sznajer, Yves, Vachiery, Jean-Luc, Seneca, Sara, Nassogne, Marie-Cécile, Belgian Society of Pediatric Neurology, UCL - (SLuc) Service de neurologie pédiatrique, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Paquay, Stéphanie, Sluysmans, Thierry, Loeckx, Isabelle, Sznajer, Yves, Vachiery, Jean-Luc, Seneca, Sara, Nassogne, Marie-Cécile, and Belgian Society of Pediatric Neurology

Abstract

Idiopathic pulmonary arterial hypertension (PAH) in early infancy is a severe condition, raised when no other pediatric disease nor genetic predisposition are found for explaining high pulmonary pressures. We herein report on a female infant misdiagnosed as having idiopathic PAH since age one month, which did not respond to bosentan and sildenafil. NFU1 deficiency was only suggested at 9 months when she demonstrated a neurological regression along with cavitating leukoencephalopathy and high levels of glycine in body fluids. Targeted sequencing confirmed the presence of the known c.622G>T (p.Gly208Cys) homozygous mutation in NFU1, a gene involved in the iron-sulfur cluster synthesis, which is an essential pathway for lipoic acid-dependent enzymatic activities and mitochondrial respiratory chain complexes. Unexplained PAH in early infancy should prompt the clinician to perform amino acid chromatography searching for high level of glycine, in particular in the event of associated neurological findings. NFU1 deficiency should appear in the metabolic causes of infant PAH as it is a prominent feature of this rare condition. Early recognition will avoid additional investigations and allow appropriate genetic counselling. No effective treatment is available to date to prevent the fatal course of this multiple mitochondrial dysfunction syndrome.

Published
2017

15. Edwards Valeo Lifestent avoids redo-surgery of RPA stenosis after repair of Berry’s syndrome

Author

Loeckx, Isabelle, Carbonez, Karlien, Moniotte, Stéphane, Rubay, Jean, Poncelet, Alain, Sluysmans, Thierry, 40ème Congrès Annuel de la Société Belge de Pédiatrie 2012, UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de cardiologie pédiatrique, UCL - (SLuc) Service de chirurgie cardiovasculaire et thoracique, UCL - (SLuc) Centre des cardiopathies congénitales de l'adulte, and UCL - (SLuc) Centre du cancer

Published
2012

16. Les compressions trachéales par un anneau ou comment l’air peut faire la chanson

Author

UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de cardiologie pédiatrique, UCL - (SLuc) Centre des cardiopathies congénitales de l'adulte, Creuven, Marine, Loeckx, Isabelle, Mulder, André, Lebrun, Frédéric, Demaret , Pierre, Baguette, Christel, Coremans, Christine, Mascart, Françoise, Moniotte, Stéphane, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de cardiologie pédiatrique, UCL - (SLuc) Centre des cardiopathies congénitales de l'adulte, Creuven, Marine, Loeckx, Isabelle, Mulder, André, Lebrun, Frédéric, Demaret , Pierre, Baguette, Christel, Coremans, Christine, Mascart, Françoise, and Moniotte, Stéphane

Published
2013

17. Edwards Valeo Lifestent avoids redo-surgery of RPA stenosis after repair of Berry’s syndrome

Author

UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de cardiologie pédiatrique, UCL - (SLuc) Service de chirurgie cardiovasculaire et thoracique, UCL - (SLuc) Centre des cardiopathies congénitales de l'adulte, UCL - (SLuc) Centre du cancer, Loeckx, Isabelle, Carbonez, Karlien, Moniotte, Stéphane, Rubay, Jean, Poncelet, Alain, Sluysmans, Thierry, 40ème Congrès Annuel de la Société Belge de Pédiatrie 2012, UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de cardiologie pédiatrique, UCL - (SLuc) Service de chirurgie cardiovasculaire et thoracique, UCL - (SLuc) Centre des cardiopathies congénitales de l'adulte, UCL - (SLuc) Centre du cancer, Loeckx, Isabelle, Carbonez, Karlien, Moniotte, Stéphane, Rubay, Jean, Poncelet, Alain, Sluysmans, Thierry, and 40ème Congrès Annuel de la Société Belge de Pédiatrie 2012

Published
2012

18. Les cardiomyopathies de l'enfant et de l'adolescent (1)

Author

UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de cardiologie pédiatrique, Loeckx, Isabelle, Moniotte, Stéphane, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de cardiologie pédiatrique, Loeckx, Isabelle, and Moniotte, Stéphane

Abstract

Les cardiomyopathies regroupent l’ensemble des affections lésant le myocarde tout en respectant les autres structures cardiaques (comme les valves, le péricarde, les coronaires). Elles ?peuvent être primaires ou secondaires à différents facteurs (médicament, hypertension artérielle, inflammation, trouble métabolique, ischémie, etc.). Plus fréquemment, ces maladies sont classées en fonction de leur mode de présentation. On distingue ainsi les cardiomyopathies dilatées, hypertrophiques et restrictives. Une même étiologie peut néanmoins présenter différents visages, appartenant à des classes différentes de cardiomyopathies. Nous vous proposons ici la 1ère partie de cet article. La seconde sera publiée dans le prochain numéro.

Published
2010

19. Les cardiomyopathies de l'enfant et de l'adolescent (2)

Author

UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de cardiologie pédiatrique, Loeckx, Isabelle, Moniotte, Stéphane, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de cardiologie pédiatrique, Loeckx, Isabelle, and Moniotte, Stéphane

Abstract

Les cardiomyopathies regroupent l’ensemble des affections lésant le myocarde tout en respectant les autres structures cardiaques (comme les valves, le péricarde, les coronaires). Elles peuvent être primaires ou secondaires à différents facteurs (médicament, hypertension artérielle, inflammation, trouble métabolique, ischémie, etc.). Plus fréquemment, ces maladies sont classées en fonction de leur mode de présentation. On distingue ainsi les cardiomyopathies dilatées, hypertrophiques et restrictives. Une même étiologie peut néanmoins présenter différents visages, appartenant à des classes différentes de cardiomyopathies. Nous vous proposons ici la 2ème partie de cet article, la 1ère ayant été publiée dans le numéro précédent

Published
2010

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