Myhre syndrome is a rare disease secondary to pathogenic variants in SMAD4 gene. It is a multisystem disease characterised by short stature, deafness, joint stiffness, craniofacial dysmorphism, and potential cardiac manifestations. Herein, we report two new paediatric cases of Myhre syndrome who, additionally, presented with mid-aortic syndrome. This confirms and extends the scarce reports describing the association between these two entities.

Mid-aortic syndrome is a rare condition characterised by segmental narrowing of the thoracoabdominal aorta. Here, we demonstrate a case of mid-aortic syndrome in a 30-month-old female who was diagnosed via transesophageal echocardiography after presenting with dilated cardiomyopathy and severe heart failure requiring placement of a left ventricular assist device.

Coarctation of the abdominal aorta is a rare condition with a handful of cases reported in infancy. We report the case of a 4-month-old infant with severe abdominal coarctation who presented with dilated cardiomyopathy. Following successful transcatheter-based stenting of her abdominal aorta, her cardiomyopathy resolved.

In this study, we summarise a case of a myofibroma causing mid-aortic syndrome due to obstruction of the distal thoracic and abdominal aorta leading to severe left ventricular dysfunction. The patient was managed with percutaneous intervention via balloon dilation and stent placement. On follow-up, the patient has normalisation of ventricular function, is off anti-hypertensives, and is being monitored for re-stenosis.