ABSTRACT
To improve the understanding of the pathophysiology of transposition of the great arteries with intact ventricular septum (TGA/IVS) and the cardiac remodeling occurring from fetal to neonatal life, we performed a morphometric and functional echocardiographic assessment in fetuses and newborns. This was a prospective case-control study performed in a tertiary referral center, which included fetuses and newborns with a diagnosis of TGA/IVS between 2011 and 2018. Morphometry and systolic and diastolic function parameters were compared with age and body surface-matched healthy controls. Twenty-one TGA/IVS patients were included during the study period and morphometric and functional echocardiographic data were recorded. TGA/IVS patients showed morphometric and functional changes of increased overall volume and output, predominantly in the aortic component from fetus to newborn, probably due to compensatory mechanisms secondary to brain hypoxia.
Subject(s)
Echocardiography/methods , Transposition of Great Vessels/diagnostic imaging , Ventricular Septum/diagnostic imaging , Case-Control Studies , Female , Fetal Heart/diagnostic imaging , Gestational Age , Humans , Infant, Newborn , Male , Prospective Studies , Transposition of Great Vessels/physiopathologyABSTRACT
Aneurysm-osteoarthritis syndrome is a recently discovered inherited autosomal dominant connective tissue disease caused by SMAD3 mutations. Aneurysm-osteoarthritis syndrome is responsible for 2% of familial thoracic aortic aneurysms and dissections and is characterised by aneurysms, dissections, and tortuosity throughout the arterial tree in combination with osteoarthritis. Early-onset osteoarthritis is present in almost all patients. We present the case of a non-syndromic young boy with SMAD3 mutation isolated from the dilated aortic root and ascending aorta without osteoarthritis.
Subject(s)
Aorta/diagnostic imaging , Aortic Aneurysm, Thoracic/genetics , Aortic Dissection/genetics , DNA/genetics , Mutation , Smad3 Protein/genetics , Aortic Dissection/diagnosis , Aortic Aneurysm, Thoracic/diagnosis , Child , DNA Mutational Analysis , Echocardiography , Humans , Magnetic Resonance Imaging, Cine , Male , Osteoarthritis , Pedigree , PhenotypeABSTRACT
OBJECTIVE: Fetal aortic valvuloplasty (FAV) may avoid progression of critical aortic stenosis (CAS) to hypoplastic left ventricle, improving the options for biventricular circulation (BVC). We describe the results of FAV in 2 referral centers in Spain. METHODS: We analyzed all FAVs performed in the period 2007-2015. The selection of candidates, the technique, and postnatal management were made following an agreed protocol. A descriptive analysis of survival, type of circulation after birth, and complications was made, considering all deaths in the first 48 h after FAV as FAV-related. RESULTS: FAV was performed in 28 fetuses at a median gestational age (GA) of 23 weeks (range, 20-32). FAV was technically successful in 22 (78.6%), of whom 11 were born alive and with intention to treat. Eight (72.7%) resulted in BVC and 3 (27.3%) in univentricular circulation. The rate of FAV-related deaths was 32%. These patients underwent FAV earlier than live-born fetuses (median GA at FAV 22 weeks [range, 20.0-25.0] vs. 24.5 weeks [range, 21.0-32.0], respectively, p = 0.031). CONCLUSIONS: A significant proportion of fetuses with CAS who undergo technically successful FAV have BVC postnatally. However, FAV implies a high risk of fetal death, which highly depends on the GA at which this intervention is required.
