SIBLINGS WITH RESTRICTIVE SYNDROME AND HYPERTROPHIC CARDIOMYOPATHY: A RARE CASE OF SUCCESSFUL HEART TRANSPLANTATION

Show simple item record

dc.contributor Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.author AZEKA, Estela FMUSP-HC
KAWASAKA, Ana Laura B. C. FMUSP-HC
TANAKA, Ana Cristina S. FMUSP-HC
PEREIRA, Alexandre C. FMUSP-HC
AIELLO, Vera D. FMUSP-HC
JATENE, Marcelo B. FMUSP-HC
dc.date.issued 2013
dc.identifier.citation PEDIATRIC TRANSPLANTATION, v.17, suppl.1, p.85-86, 2013
dc.identifier.issn 1397-3142
dc.identifier.uri http://observatorio.fm.usp.br/handle/OPI/3129
dc.description.abstract PURPOSE: To report the cases of siblings with restrictive syndrome who underwent heart transplantation and whose hearts had histological characteristics of hypertrophic cardiomyopathy (HCM). METHOD: Case1) A 7 year-old boy with recurrent pneumonias and cardiomegaly. Echocardiography showed features of restrictive cardiomyopathy. No pericardial commitment was found. Due to refractory congestive heart failure he was listed and successfully transplanted at the age 14. The analysis of the explanted heart revealed diffuse myocite disarray, with no septal asymmetry or subaortic obstruction. He is currently in clinical follow up for 5 years. Case 2) A 10 year-old female with exertion dyspnea, cyanosis and vomits. Due to the family history, she was referred for investigation. Restrictive cardiomyopathy was diagnosed. She was listed for heart transplant and successfully transplanted at the age of 13. The analysis of the explanted heart showed mild thickening of ventricular walls with no asymmetries or subaortic obstruction and several areas of myocyte disarray and fibrosis. She is currently in clinical follow up for 2 years. Blood samples of our patients were tested for mutations in genes MYH7, MYBPC and Troponin I (most frequently related to HCM in Brazil), but no alterations were found. CONCLUSION: HCM is a genetic condition related to mutations in genes that encode components of the sarcomere. It can rarely present with features of restrictive syndrome. Heart transplant is the therapeutic option for refractory congestive heart failure, before the evolution to pulmonary hypertension, with good clinical outcome.
dc.language.iso eng
dc.publisher WILEY-BLACKWELL
dc.relation.ispartof Pediatric Transplantation
dc.rights restrictedAccess
dc.title SIBLINGS WITH RESTRICTIVE SYNDROME AND HYPERTROPHIC CARDIOMYOPATHY: A RARE CASE OF SUCCESSFUL HEART TRANSPLANTATION
dc.type conferenceObject
dc.rights.holder Copyright WILEY-BLACKWELL
dc.description.conferencedate JUL 13-16, 2013
dc.description.conferencelocal Warsaw, POLAND
dc.description.conferencename 7th Congress on Pediatric Transplantation – Discover the Unexpected
dc.description.group LIM/13
dc.description.group LIM/11
dc.type.category meeting abstract
dc.type.version publishedVersion
hcfmusp.author AZEKA, Estela:HC:INCOR
hcfmusp.author KAWASAKA, Ana Laura B. C.:HC:INCOR
hcfmusp.author TANAKA, Ana Cristina S.:HC:INCOR
hcfmusp.author PEREIRA, Alexandre C.:HC:LIM/13
hcfmusp.author AIELLO, Vera D.:HC:INCOR
hcfmusp.author JATENE, Marcelo B.:HC:INCOR
hcfmusp.origem.id WOS:000321439600179
hcfmusp.publisher.city HOBOKEN
hcfmusp.publisher.country USA
dc.description.index MEDLINE
hcfmusp.citation.wos 0


Files in this item

Files Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record

Search DSpace



Browse

My Account

Statistics