The clinical management and decision-making in pregnancies in which there is suspicion of lethal fetal malformations during the prenatal period, such as lethal skeletal dysplasia (SD), demand a multidisciplinary approach coordinated by an experienced physician. Based on the presentation of a case of osteogenesis imperfecta type IIA, we offer and discuss recommendations with the intention of organizing clinical and laboratory investigations aiming toward the clinical management, prognosis, and etiological diagnosis of these malformations, as well as genetic counselling to patients who wish to become pregnant.
We present a 48-year-old male patient with a history of classic precordialgia, ST-segment elevation in inferior leads (II, III and aVF), with troponin and CK-MB (creatine kinase-MB) elevated on the day of admission that received conventional anti-ischemic treatment. Hemodynamically stable, symptom-free, is referred to cardiac catheterization. In the selective catheterization of the left coronary artery, a moderate lesion was observed in the middle third of the anterior descending coronary artery; in the right coronary artery, a subocclusive proximal lesion with TIMI (thrombolysis in myocardial infarction) II. We performed a single projection and opted for angioplasty. Before, it was decided to re-evaluate the left coronary artery, and it was observed in the contrast test that anterior descending artery was occluded. Intra-coronary nitroglycerin and new contrast injection were performed, which showed totally open descending artery with TIMI III, without obstructive lesions as initially suggested, and improvement of pain. It was a severe coronary vasospasm. When a new contrast injection was performed in the right coronary, with a therapeutic catheter, the disappearance of the subocclusive lesion and the presence of a normal coronary flow were observed, although there was a moderate plaque in its proximal third, which motivated the maintenance of angioplasty with stent placement in a proximal third of right coronary artery. During the passage of the intracoronary guidewire it was once again evident that diffuse coronary artery vasoreactivity was present; the procedure was successfully completed.
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