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Article

Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein.

European journal of pediatrics - 1 Dec 2015

Ojala Tiina, Nupponen Irmeli, Saloranta Carola, Sarkola Taisto, Sekar Priya, Breilin Anniina, Tyni Tiina

Abstract excerpt

We report a fetal case with fatal outcome having a novel mutation in the HADHB gene, coding the beta-subunit of the mitochondrial trifunctional protein. Parents had a previous pregnancy loss due to fetal heart failure and hydrops. The next pregnancy led to left ventricular noncompaction and increasing pleural effusions after 29 gestational weeks. The fetus was small for gestational age, and long bones were...

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Source

Identifiers

PMID: 26070998
DOI: 10.1007/s00431-015-2574-9

Genes

HADHB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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