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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Main Authors: Lutgardo García-Díaz, Félix Coserria, Guillermo Antiñolo
Format: Article
Language:English
Published: Hindawi Limited 2013-01-01
Series:Case Reports in Obstetrics and Gynecology
Online Access:http://dx.doi.org/10.1155/2013/472356
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spelling 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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AT felixcoserria hypertrophiccardiomyopathyduetomitochondrialdiseaseprenataldiagnosismanagementandoutcome
AT guillermoantinolo hypertrophiccardiomyopathyduetomitochondrialdiseaseprenataldiagnosismanagementandoutcome
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