Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome
A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department at 37 weeks' gestation because of suspected congenital heart disease. Prenatal echocardiography showed biventricular hypertrophy and pericardial effusion, without additional a...
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doaj-2e5aef447a824aa69845d4298e5a11652020-11-24T22:15:41ZengHindawi LimitedCase Reports in Obstetrics and Gynecology2090-66842090-66922013-01-01201310.1155/2013/472356472356Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and OutcomeLutgardo García-Díaz0Félix Coserria1Guillermo Antiñolo2Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío, CSIC, Universidad de Sevilla, 41013 Sevilla, SpainUnidad de Gestión Clínica de Pediatría, Sección de Cardiología Infantil, Hospital Infantil, Hospital Universitario Virgen del Rocío, 41013 Sevilla, SpainUnidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío, CSIC, Universidad de Sevilla, 41013 Sevilla, SpainA case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department at 37 weeks' gestation because of suspected congenital heart disease. Prenatal echocardiography showed biventricular hypertrophy and pericardial effusion, without additional abnormalities. Postnatal echocardiography confirmed prenatal diagnosis. Neonatal EKG showed biventricular hypertrophy and Wolff-Parkinson-White syndrome. Skeletal muscle biopsy was consistent with mitochondrial oxidative phosphorylation defect involving a combined defect of respiratory complexes I and IV. Echocardiographic followup during the first year of life showed progressive regression of hypertrophy and evolution to left ventricular myocardial noncompaction.http://dx.doi.org/10.1155/2013/472356 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Lutgardo García-Díaz Félix Coserria Guillermo Antiñolo |
spellingShingle |
Lutgardo García-Díaz Félix Coserria Guillermo Antiñolo Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome Case Reports in Obstetrics and Gynecology |
author_facet |
Lutgardo García-Díaz Félix Coserria Guillermo Antiñolo |
author_sort |
Lutgardo García-Díaz |
title |
Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome |
title_short |
Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome |
title_full |
Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome |
title_fullStr |
Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome |
title_full_unstemmed |
Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome |
title_sort |
hypertrophic cardiomyopathy due to mitochondrial disease: prenatal diagnosis, management, and outcome |
publisher |
Hindawi Limited |
series |
Case Reports in Obstetrics and Gynecology |
issn |
2090-6684 2090-6692 |
publishDate |
2013-01-01 |
description |
A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department at 37 weeks' gestation because of suspected congenital heart disease. Prenatal echocardiography showed biventricular hypertrophy and pericardial effusion, without additional abnormalities. Postnatal echocardiography confirmed prenatal diagnosis. Neonatal EKG showed biventricular hypertrophy and Wolff-Parkinson-White syndrome. Skeletal muscle biopsy was consistent with mitochondrial oxidative phosphorylation defect involving a combined defect of respiratory complexes I and IV. Echocardiographic followup during the first year of life showed progressive regression of hypertrophy and evolution to left ventricular myocardial noncompaction. |
url |
http://dx.doi.org/10.1155/2013/472356 |
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