fetal cardiomyopathy

Fetal cardiomyopathy refers to a very rare situation where a cardiomyopathy occurs in utero. It is often a diagnosis of exclusion where, by definition, there is an absence of an underlying congenital cardiac morphological anomaly.

Epidemiology

The estimated incidence is variable with the high end of the reported spectrum approaching 1 in 5,000 births .

Associations

A fetal cardiomyopathy can have a broad spectrum of syndromic, as well non-syndromic, associations, which include:

• Barth syndrome : X-linked disorder which can result in a fetal dilated cardiomyopathy
• congenital infection :  generally tend to develop a dilated cardiomyopathy
• endocardial fibroelastosis related to maternal anti-Ro/La antibodies : generally tend to develop a dilated cardiomyopathy
• fetal high output states:
  • fetal anemia
    • alpha thalassemia
• Noonan syndrome : tend to develop a hypertrophic cardiomyopathy
• maternal diabetes : tend to develop a hypertrophic cardiomyopathy
• twin-twin transfusion syndrome: the pump twin may develop a hypertrophic cardiomyopathy

Pathology

It often results from a primary dysfunction in cardiac muscle functioning (i.e. no underlying chamber morphological or valvular anomaly)

Subtypes

There are two main subtypes

• fetal hypertrophic cardiomyopathy: relatively more common
• fetal dilated cardiomyopathy: relatively rarer 

Radiographic assessment

Dedicated fetal echocardiography is often required. Radiographic features will depend on the subtype. Often the fetal heart is enlarged resulting in an increased cardiothoracic circumferential ratio.

Treatment and prognosis

A poor outcome is observed in many affected fetuses. The presence of diastolic dysfunction in a fetal cardiomyopathy is considered to be associated with the highest risk of mortality . Treatment options vary depending on the presence of associated conditions (e.g. control of underlying twin-twin transfusion syndrome, etc.).

Complications

• progression to hydrops fetalis

Siehe auch:

• Hydrops fetalis
• in utero infection
• Noonan-Syndrom
• endocardial fibroelastosis
• Kardiomyopathie
• fetal anaemia
• twin to twin transfusion syndrome (TTTS)
• Barth-Syndrom
• maternal diabetes
• cardiothoracic circumferential ratio
• congenital cardiac morphological anomaly

und weiter:

• obstetric curriculum
• fetal premature ventricular contractions