Association for Inherited Cardiac Conditions
Case of the Month
Antenatal Diagnosis of Aortopathy: a case report of Arterial Tortuosity Syndrome
AUTHORS
Karina RM Lopes 1,3
Sahar Mansour 1,2
Julene S Carvalho 1,2,3
(1) Fetal Medicine Unit, St George’s University Hospitals NHS Trust, London, UK
(2) Cardiovascular and Genomics Research Institute, City St. George's, University of London
(3) Brompton Centre for Fetal Cardiology, Royal Brompton Hospital, London, UK
Inherited aortopathies encompass a variety of genetic syndromes that can manifest as arterial tortuosity. Antenatal diagnosis is possible, which allows for tailored prenatal care and postnatal management.
Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder characterized by abnormal elongation and tortuosity of large and medium arteries. Prenatal diagnosis is exceptional. We present a case diagnosed antenatally due to abnormal cardiac screening views.
A 32-year-old, G2P1 lady was referred for fetal echocardiography at 20+3 weeks gestation due to abnormal 3-vessel view at the time of the anomaly scan. First trimester screening was high-risk for trisomy 21 but non-invasive prenatal testing was low risk for common trisomies. Serial fetal echocardiograms showed an elongated aorta with evidence of tortuosity of the brachiocephalic artery. The pulmonary artery, branches, and arterial duct were also elongated. Additionally, the mid-cerebral arteries were tortuous, and the left renal artery appeared narrow and elongated at its origin. Fetal body and cardiac magnetic resonance imaging confirmed the above findings.
The couple´s first daughter is healthy, but many relatives have physical and intellectual disabilities. Given the echocardiographic findings and history of multiple consanguineous marriages in this pakistani family, a rapid fetal exome was conducted and demonstrated the fetus was homozygous for a pathogenic variant in SCL2A10 gene and both parents are carriers, confirming the diagnosis of ATS.
Pathogenic variants in SCL2A10 gene disrupt collagen and elastin synthesis, leading to upregulated transforming growth factor-β (TGFβ) signaling. Homozygous or compound heterozygous pathogenic variants in SLC2A10 result in ATS.
The disease spectrum is wide, the first years of life being most critical for life-threatening events. The cardiovascular system is the main source of morbidity and mortality. Principal features include aortic and other arteries tortuosity, with a high risk for cerebrovascular accidents; aortic root dilatation; pulmonary artery and aortic stenosis, and autonomic dysfunction. In addition to cardiovascular manifestations, joint hypermobility, highly stretchable skin, and various skeletal and connective tissue anomalies are prevalent characteristics of ATS.
In view of variable clinical presentation and progression, ATS necessitate an individualized approach to management. Antenatal diagnosis enables an early plan of care.
Figure 1. Dual cross-sectional images in arterial tortuosity syndrome at 28+5 weeks showing: (a) elongated aortic arch (AoA) and (b) tortuosity and dilatation of the brachiocephalic artery (BCA) on sagittal view; (c) elongated right pulmonary artery (RPA) and arterial duct (AD) on three-vessel view; (d) tortuosity of middle cerebral arteries (MCA) on transverse plane. A, anterior; P, posterior; S, superior; I, inferior
Fetal echocardiogram images showing normal segmental anatomy. The ascending aorta was mildly prominent. The aortic arch was elongated with a wide curvature (unfolded). The aortic branches appeared dilated with evidence of tortuosity of the brachiocephalic artery. The pulmonary artery was of adequate size with an elongated appearance. The arterial duct was long and narrow with no discrete stenosis.
