Background:
Coarctation of the aorta (CoA) is a common congenital cardiovascular malformation with aortic narrowing in the region of the ligamentum arteriosum. Hypertrophic cardiomyopathy (HCM) is a primary cardiomyopathy that is characterized by left ventricular wall thickening and likely left ventricular outflow tract (LVOT) obstruction. They are two irrelevant diseases, and their coexistence has not been reported before. Here, we described a young female patient who concurrently has CoA and HCM.
Case presentation:
The patient has had hypertension since 18-years old and complained of chest discomfort on effort and fatigue thereafter. Initially, she was diagnosed as having hypertrophic cardiomyopathy and primary hypertension. The presence of CoA was not found until she was 35 years old when she had an onset of paroxysmal supraventricular tachycardia (PSVT) and presented with syncope. Failure of the ablation procedure via the femoral artery revealed the possibility of CoA and PDA that was confirmed by aortic CTA and angiography. CoA was then treated successfully with a covered stent, and the symptoms of the patient improved remarkably. Additionally, the patient had typical imaging features of HCM, and two novel HCM-causing heterozygous mutations were identified by genetic testing, DSP-encoding desmoplakin, and MYBPC3-encoding myosin-binding protein C. The HCM was suspected to be contributing to the clinical presentations of the patient and challenged the timely diagnosis of CoA. The 8-year follow-up on aortic CTA and angiography revealed no stent graft-related complications. Moreover, no changes in HCM-related imaging features were found in the follow-up echocardiography 8 years after the correction of aortic coarctation, which strengthened the diagnosis of HCM.
Conclusion:
Here, we reported the diagnostic challenges, management, and 8-yeasr follow-up findings in a rare case of CoA combined with HCM. The case highlighted the importance for physicians to exclude CoA in young hypertensive patients, and proved the efficacy of stent repair in treating CoA in older patients.