Generalized Vessel Malformation with Giant Aortic Dilatation and Arterial Tortuosity: an Exceptional Case

Clinical Report: A 13-month-old boy of nonconsanguine parents, presented with massive dilatation of the aorta, reduced left ventricular fractional shortening, aortic valve insufficiency, mitral valve insufficiency with mitral prolapse, and low cardiac output. Additionaly mild muscular hypotonia, developmental retardation and mild facial dysmorphia (hypertelorism).

Diagnostic Approach: Dual-CT-scan demonstrated a generalized disturbance of the architecture of the great vessels with massive ectasia, elongation and kinking of the aorta and hypoplastic, twisted or ectatic aortic branches. MRI of CNS revealed significant dilatation of head, neck, and arm vessels of variable magnitude and remarkable kinking and tortuosity of both carotid arteries and intracerebral arteries. Further diagnostics showed no signs of congenital metabolic or inflammatory diseases. The authors performed exome-sequencing (NGS) which evaluated the most tentative diagnosis of congenital connective tissue disease (arterial tortuosity syndrome, Marfan syndrome, Ehlers-Danlos, Cutis laxa Syndrome, Loeys-Dietz Syndrome) which revealed no pathogenic mutation. An exome-wide diagnostic pipeline is still pending.

Fig. 1

Clinical Outcome: The patient showed LV-decompensation, increasing mitral regurgitation, and lung edema during a bronchopulmonary infection. Due to complete deterioration of the aorta's elasticity the coronary flow decreased and the patient died of acute LV-failure.