Abstract 1757: A 35-Year-Old Female with Anterior ST Segment Elevation and Cardiogenic Shock
A 35 year-old female with history of spontaneous pneumothorax presented with acute onset chest pain. She was hypotensive and tachycardic. Exam revealed tall stature, distended neck veins, and diffuse crackles. CXR showed pulmonary edema, no pneuomothorax and normal cardiac and mediastinal silhouettes. Electrocardiogram showed antero-lateral ST elevation. The patient was intubated and stabilized. Transthoracic echocardiogram showed anterior wall motion abnormality, no pericardial effusion, a normal aortic root with no obvious dissection or aortic insufficiency. CT angiogram of the chest showed no aortic dissection. As no dissection was identified she was taken for cardiac catheterization for acute MI. Angiography revealed a patent right coronary and an occluded left-main. The left-main was successfully treated with angioplasty and stenting. Subsequent TEE revealed an aortic intramural hematoma adjacent to the left-main ostium. Repeat CT angiography revealed non-flow limiting dissections of the left subclavian, the superficial mesenteric, and the left internal carotid arteries. Her body habitus and presentation suggested a malignant connective tissue disorder. Family history included maternal fatal aortic rupture at age 40 and sudden death of her maternal grandfather at age 45 of unknown etiology. In addition to Marfan Syndrome, her aortic dissection without aortic dilation suggested a possible TGF-B receptor mutation (Loeys-Dietz syndrome). Genetic testing revealed a novel Fibrillin-1 mutation at intron 40. The location at the splice acceptor site of the intron/exon boundary was likely to be pathogenic. Her daughter has tall stature and normal aortic root and is undergoing mutation confirmation testing. The phenotypic characteristics of patients with Marfan and related syndromes may vary and are associated with important morbidity and mortality. Basic science and clinical translational studies have advanced our understanding of disease pathogenesis and our approach to patient care. Genetic testing offers potential for definitive identification of family members at risk. Illumination of the role of TGF-beta signaling in the pathobiology of these syndromes has led to new possibilities in treatment and diagnosis.