1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review

Background: Monosomy 1p36 syndrome is now considered the most common terminal deletion syndrome, with an estimated incidence of 1 in 5000. Cardiac involvement is well described in the literature mainly in terms of congenital heart defects (CHDs) and cardiomyopathies (CMPs). Few data in the literatur...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Valentina Lodato, Valeria Orlando, Viola Alesi, Silvia Di Tommaso, Mario Bengala, Giovanni Parlapiano, Elisa Agnolucci, Marianna Cicenia, Federica Calì, Maria Cristina Digilio, Fabrizio Drago, Antonio Novelli, Anwar Baban
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	1p36 deletion syndrome heart aortic dilatation <i>SKI</i> Diseases of the circulatory (Cardiovascular) system RC666-701
Acceso en línea:	https://doaj.org/article/e66cb9230e3c4788851e8444807e9dd6
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:e66cb9230e3c4788851e8444807e9dd6
record_format	dspace
spelling	oai:doaj.org-article:e66cb9230e3c4788851e8444807e9dd62021-11-25T18:00:29Z1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review10.3390/jcdd81101592308-3425https://doaj.org/article/e66cb9230e3c4788851e8444807e9dd62021-11-01T00:00:00Zhttps://www.mdpi.com/2308-3425/8/11/159https://doaj.org/toc/2308-3425Background: Monosomy 1p36 syndrome is now considered the most common terminal deletion syndrome, with an estimated incidence of 1 in 5000. Cardiac involvement is well described in the literature mainly in terms of congenital heart defects (CHDs) and cardiomyopathies (CMPs). Few data in the literature describe the potential progressive nature of aortic dilatation (root and ascending aorta) in 1p36 deletion syndrome. <i>SKI</i> harboured in the deleted region might play a predisposing factor for this aspect. Methods: we reviewed the aortic aspect both in the literature and in our cohort, where major attention to the aortic abnormalities was given through dedicated echocardiographic measurements even in previously screened individuals. Results: aortic involvement in 1p36 deletion syndrome was described in the literature three times within the CHD context. We observed three additional patients from our cohort (three out of nine patients) with aortic dilatation. All patients with dilated aorta had <i>SKI</i> haploinsufficiency within the deleted region. Conclusions: at long-term outcome and with a growing population of this rare disease, this association (1p36 deletion and aortic dilatation) might represent a major concern especially in terms of risk stratification and the potential need for specific management (conservative pharmacologic and eventually surgical) whenever indicated. The present study suggests the need for detailed multicentric studies and indication to periodic echocardiographic screening in addition to baseline tests, especially in individuals with deletions harbouring <i>SKI</i>.Valentina LodatoValeria OrlandoViola AlesiSilvia Di TommasoMario BengalaGiovanni ParlapianoElisa AgnolucciMarianna CiceniaFederica CalìMaria Cristina DigilioFabrizio DragoAntonio NovelliAnwar BabanMDPI AGarticle1p36 deletion syndromeheartaortic dilatation<i>SKI</i>Diseases of the circulatory (Cardiovascular) systemRC666-701ENJournal of Cardiovascular Development and Disease, Vol 8, Iss 159, p 159 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	1p36 deletion syndrome heart aortic dilatation <i>SKI</i> Diseases of the circulatory (Cardiovascular) system RC666-701
spellingShingle	1p36 deletion syndrome heart aortic dilatation <i>SKI</i> Diseases of the circulatory (Cardiovascular) system RC666-701 Valentina Lodato Valeria Orlando Viola Alesi Silvia Di Tommaso Mario Bengala Giovanni Parlapiano Elisa Agnolucci Marianna Cicenia Federica Calì Maria Cristina Digilio Fabrizio Drago Antonio Novelli Anwar Baban 1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review
description	Background: Monosomy 1p36 syndrome is now considered the most common terminal deletion syndrome, with an estimated incidence of 1 in 5000. Cardiac involvement is well described in the literature mainly in terms of congenital heart defects (CHDs) and cardiomyopathies (CMPs). Few data in the literature describe the potential progressive nature of aortic dilatation (root and ascending aorta) in 1p36 deletion syndrome. <i>SKI</i> harboured in the deleted region might play a predisposing factor for this aspect. Methods: we reviewed the aortic aspect both in the literature and in our cohort, where major attention to the aortic abnormalities was given through dedicated echocardiographic measurements even in previously screened individuals. Results: aortic involvement in 1p36 deletion syndrome was described in the literature three times within the CHD context. We observed three additional patients from our cohort (three out of nine patients) with aortic dilatation. All patients with dilated aorta had <i>SKI</i> haploinsufficiency within the deleted region. Conclusions: at long-term outcome and with a growing population of this rare disease, this association (1p36 deletion and aortic dilatation) might represent a major concern especially in terms of risk stratification and the potential need for specific management (conservative pharmacologic and eventually surgical) whenever indicated. The present study suggests the need for detailed multicentric studies and indication to periodic echocardiographic screening in addition to baseline tests, especially in individuals with deletions harbouring <i>SKI</i>.
format	article
author	Valentina Lodato Valeria Orlando Viola Alesi Silvia Di Tommaso Mario Bengala Giovanni Parlapiano Elisa Agnolucci Marianna Cicenia Federica Calì Maria Cristina Digilio Fabrizio Drago Antonio Novelli Anwar Baban
author_facet	Valentina Lodato Valeria Orlando Viola Alesi Silvia Di Tommaso Mario Bengala Giovanni Parlapiano Elisa Agnolucci Marianna Cicenia Federica Calì Maria Cristina Digilio Fabrizio Drago Antonio Novelli Anwar Baban
author_sort	Valentina Lodato
title	1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review
title_short	1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review
title_full	1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review
title_fullStr	1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review
title_full_unstemmed	1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review
title_sort	1p36 deletion syndrome and the aorta: a report of three new patients and a literature review
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/e66cb9230e3c4788851e8444807e9dd6
work_keys_str_mv	AT valentinalodato 1p36deletionsyndromeandtheaortaareportofthreenewpatientsandaliteraturereview AT valeriaorlando 1p36deletionsyndromeandtheaortaareportofthreenewpatientsandaliteraturereview AT violaalesi 1p36deletionsyndromeandtheaortaareportofthreenewpatientsandaliteraturereview AT silviaditommaso 1p36deletionsyndromeandtheaortaareportofthreenewpatientsandaliteraturereview AT mariobengala 1p36deletionsyndromeandtheaortaareportofthreenewpatientsandaliteraturereview AT giovanniparlapiano 1p36deletionsyndromeandtheaortaareportofthreenewpatientsandaliteraturereview AT elisaagnolucci 1p36deletionsyndromeandtheaortaareportofthreenewpatientsandaliteraturereview AT mariannacicenia 1p36deletionsyndromeandtheaortaareportofthreenewpatientsandaliteraturereview AT federicacali 1p36deletionsyndromeandtheaortaareportofthreenewpatientsandaliteraturereview AT mariacristinadigilio 1p36deletionsyndromeandtheaortaareportofthreenewpatientsandaliteraturereview AT fabriziodrago 1p36deletionsyndromeandtheaortaareportofthreenewpatientsandaliteraturereview AT antonionovelli 1p36deletionsyndromeandtheaortaareportofthreenewpatientsandaliteraturereview AT anwarbaban 1p36deletionsyndromeandtheaortaareportofthreenewpatientsandaliteraturereview
_version_	1718411775466012672

1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review

Ejemplares similares