Adeeb Al-Quthami

Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia.

Patients with fibromuscular dysplasia (FMD) may have clinical features consistent with Mendelian vascular connective tissue disorders. The yield of genetic testing for these disorders among patients with FMD has not been determined. A total of 216 consecutive patients with FMD were identified. Clinical characteristics were collected and genetic test results reviewed for abnormalities in the following genes: transforming growth factor-β receptor 1 and 2 (TGFβR1 and TGFβR2), collagen 3A1, fibrillin-1, smooth muscle α-actin 2, and SMAD3. A total of 63 patients (63/216; 29.2%) were referred for genetic counseling with testing performed in 35 (35/63; 55.6%). The percentage of patients with a history of arterial or aortic dissection, history of aortic aneurysm, systemic features of a connective tissue disorder, and a family history of sudden death was significantly larger in the group that underwent genetic testing (62.9% vs 18.2%, p < 0.001; 8.6% vs 1.7%, p = 0.02; 51.4% vs 17.1%, p < 0.001; and 42.9% vs 22.7%, p = 0.04, respectively). Two patients were found to have distinct variants in the TGFβR1 gene (c.611 C>T, p.Thr204lle and c.1285 T>C, p.Tyr429His). The yield of genetic testing for vascular connective tissue disorders was low in a high-risk subset of FMD patients. However, two patients with a similar phenotype had novel and distinct variants in the TGFβR1 gene, a finding which merits further investigation.

Eptifibatide for the Treatment of HeartMate II Left Ventricular Assist Device Thrombosis

Left ventricular assist device (LVAD) thrombosis is a life-threatening complication occurring in ≈6% of patients receiving a HeartMate II (HMII) LVAD (Thoratec Corp, Pleasanton, CA) within 24 months after implantation.1 Prophylactic therapy with aspirin and warfarin to an international normalized ratio (INR) of 1.5 to 2.5 is recommended to prevent LVAD thrombosis in most HMII recipients.2 For device malfunction because of pump thrombosis, surgical device exchange may be necessary but carries a high risk of morbidity and mortality. Alternate treatment approaches include the addition of clopidogrel, tirofiban, and thrombolysis.3 We report our experience with eptifibatide (Merck & Co, Inc, Whitehouse Station, NJ), a platelet glycoprotein IIb/IIIa receptor inhibitor, for the treatment of LVAD thrombosis in 2 patients. A 66-year-old male with ischemic cardiomyopathy who underwent HMII implantation as a bridge to cardiac transplantation developed LVAD thrombosis 42 days after his surgery while taking 325 mg of aspirin and warfarin. His INR was subtherapeutic at 1.3. Hematuria, a lactate dehydrogenase level of 2326 IU/L, direct bilirubin of 0.8 mg/dL, a lower pulsatility index, and pump flow compared with previous levels, which suggested hemolysis and …

Augmentation index and aortic stiffness in bicuspid aortic valve patients with non-dilated proximal aortas

BackgroundWe compared aortic stiffness, aortic impedance and pressure from wave reflections in the setting of bicuspid aortic valve (BAV) to the tricuspid aortic valve (TAV) in the absence of proximal aortic dilation. We hypothesized BAV is associated with abnormal arterial stiffness.MethodsTen BAV subjects (47 ± 4 years, 6 male) and 13 TAV subjects (46 ± 4 years, 10 male) without significant aortic valve disease were prospectively recruited. Characteristic impedance (Zc) was derived from echocardiographic images and pulse wave Doppler of the left ventricular outflow tract. Applanation tonometry was performed to obtain pulse wave velocity (PWV) at several sites as measures of arterial stiffness and augmentation index (AIx) as a measure of wave reflection.ResultsThere were no significant differences between BAV and TAV subjects with regard to heart rate or blood pressure. Zc was similar between BAV and TAV subjects (p=0.25) as was carotid-femoral pulse wave velocity (cf-PWV) and carotid-radial PWV (cr-PWV) between BAV and TAV subjects (p=0.99). Carotid AIx was significantly higher in BAV patients compared with TAV patients (14.3 ± 4.18% versus -3.02 ± 3.96%, p=0.007).ConclusionsAortic stiffness and impedance is similar between subjects with BAV and TAV with normal aortic dimensions. The significantly higher carotid AIx in BAV, a proxy of increased pressure from wave reflections, may reflect abnormal vascular function distal to the aorta.

Percutaneous left ventricular support in cardiogenic shock and severe aortic regurgitation.

Severe aortic regurgitation (AR) is a well‐established contraindication to intra‐aortic balloon counterpulsation therapy. We report two cases of medically refractory cardiogenic shock in patients with severe AR who were successfully bridged to surgical left ventricular assist device implantation by percutaneous left atrial to femoral artery mechanical bypass. Further investigation into the clinical utility of percutaneous mechanical support in the setting of AR and shock is required.

Dysphagia aortica with left atrial compression

A 29-year-old man with no significant past medical history presented with progressive dysphagia for several weeks duration. The patient did not report any chest pain or shortness of breath. His physical examination was unremarkable. Upper endoscopy revealed a large extrinsic mass compressing the mid-esophagus. An electrocardiogram showed normal sinus rhythm, inferolateral Q waves and voltage criteria for left ventricular hypertrophy. Transthoracic echocardiogram revealed normal left ventricular function with a large mass compressing the left atrium (Panel A and B; indicated by arrow). Computed tomography (CT) of the chest and abdomen with iodinated contrast demonstrated two sequential descending thoracic aortic pseudoaneurysms (PSAs) with intramural thrombi (Panel C and D; indicated by cross and asterisk) compressing the left atrium (Panel E, arrow) and esophagus (Panel F, arrow). The patient underwent urgent aneurysmectomy with descending thoracic interposition