Fatal heart failure caused by severe pulmonary regurgitation, tricuspid regurgitation and late-onset mitral stenosis in an adult patient with Noonan syndrome: a case report

Abstract Background In patients with Noonan syndrome (NS), cardiac disorders such as pulmonary valve stenosis (PS) or hypertrophic cardiomyopathy (HCM) are common. While some patients can develop heart failure associated with HCM, the long-term outcome of adult patients with NS is reported to be good. Fatal outcomes of heart failure in patients with NS but without HCM are rare. Case presentation We report a 25-year-old Japanese woman diagnosed with NS in adulthood. She exhibited short stature and minor facial dysmorphism and was diagnosed with PS at 1 year of age. After surgical valvuloplasty for PS at 6 years of age, her general condition became stable without specific medical treatment. She discontinued regular medical follow-up for PS. At 21 years of age, she developed acute decompensated heart failure, which was mainly right-sided heart failure due to severe pulmonary regurgitation (PR) and tricuspid regurgitation (TR). There was no evidence of HCM or PS recurrence. On the basis of the history of PS and characteristic physical features including short stature, webbed neck, and hypertelorism, she was clinically diagnosed with NS. At 25 years of age, she developed heart failure of both sides due to PR, TR and late-onset severe mitral stenosis (MS). The etiology of MS was uncertain. Owing to the patient’s condition, surgical options were considered to be extremely high risk. She was treated with optimal medical treatment as well as the occasional abdominal cavity drainage for recurrent ascites; however, she died of decompensated heart failure at 27 years of age. Conclusions We describe an adult patient with NS without HCM who died of heart failure caused by severe PR, TR and MS. Clinicians should recognize that ongoing or late-onset cardiac disorders can develop in patients with NS, and lead to fatal heart failure. Optimal medical follow-up to monitor cardiac function and early identification of heart failure are important

“Pseudo aortoiliac bifurcation” leading to significant plaque shifting in the endovascular treatment of an aortoiliac bifurcation lesion: a case report

Abstract Background Plaque shifting is a serious complication of endovascular treatment (EVT) for aortoiliac bifurcation lesions. It is challenging to predict the occurrence of unfavorable plaque shifting correctly. Case presentation We report the case of an 88-year-old Japanese woman who experienced constant pain at rest in her left leg. The ankle-brachial pressure index of her left leg was 0.57. Computed tomography (CT) angiography revealed severe stenosis of the left common iliac artery (CIA) and total occlusion of the left external iliac artery (EIA). We diagnosed the patient with acute exacerbation of a chronic limb ischemia and administered endovascular treatment (EVT) to treat the left CIA and EIA. The results of initial angiography agreed with those of CT angiography. After placing a self-expandable stent for the left CIA lesion, significant unfavorable plaque shifting occurred. From a comparison between pre- and post-stenting angiography, we realized that the plaque protrusion into the terminal aorta had formed a “pseudo aortoiliac bifurcation” that was situated more proximally compared to the true bifurcation. We had incorrectly assessed the height of the aortoiliac bifurcation and exact plaque position and had underestimated the risk of plaque shifting because of this misunderstanding. The patient ultimately developed fatal cholesterol embolization after EVT. Conclusions Plaque protrusion into the terminal aorta can form a “pseudo aortoiliac bifurcation”, causing the wrong estimation of the height of the aortoiliac bifurcation; “angiographically”, the highest point is not always the true bifurcation. Careful assessment of initial angiography to detect the true aortoiliac bifurcation and exact plaque position is essential to avoid unfavorable plaque shifting