A Genotyped Case of Townes-Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey.

Townes-Brocks syndrome (TBS) is a rare syndrome characterized by triad of anal, ear, and thumb anomalies. Further malformations/anomalies include congenital heart diseases, foot malformations, sensorineural and/or conductive hearing impairment, genitourinary malformations, and anomalies of eye and nervous system. Definitive diagnosis for TBS is confirmed by molecular analysis for mutations in the SALL1 gene. Only one known case of TBS with absent pulmonary valve syndrome (APVS) has been previously described to our knowledge. Here, we report a newborn diagnosed with TBS with APVS and tetralogy of Fallot (TOF) who was found to carry the most common pathogenic SALL1 gene mutation c.826C > T (p.R276X), with its surgical repair and postoperative follow-up. To our knowledge, this is the first genotyped case of TBS from Turkey to date. TBS should be suspected in the presence of ear, anal, and thumb malformations in a neonate. If a patient with TBS and TOF-APVS needs preoperative ventilation within the first months of life, this implies prolonged postoperative intubation and increased risk of mortality.

New Biomarkers (Endocan, Interleukin-17, and Thrombospondin-4) for the Diagnosis, Assessment of Severity, and Follow-Up of Peripheral Arterial Disease.

The present study evaluated the use of endocan, interleukin-17 (IL-17), and thrombospondin-4 (TSP-4) blood levels as potential biomarkers for the diagnosis and follow-up of peripheral arterial disease (PAD). Patients with PAD (Rutherford categories I, II, and III) who were admitted between March 2020 and March 2022 for cardiovascular surgery or outpatient clinic follow-up were included. The patients (n = 60) were divided into 2 groups: medical treatment (n = 30) and surgical treatment (n = 30). In addition, a control group (n = 30) was created for comparison. Endocan, IL-17, and TSP-4 blood levels were measured at the time of diagnosis and at the first month after treatment. Endocan and IL-17 values were found to be significantly higher in both groups that underwent medical (259.7 ± 46 pg/mL, 63.7 ± 16.6 pg/mL) and surgical (290.3 ± 84.5 pg/mL, 66.4 ± 19.6 pg/mL) treatment than the control group (187.4 ± 34.5 pg/mL, 56.5 ± 7.2 pg/mL P < .001). Tsp-4 value was found to be significantly higher only in the surgical treatment group (15 ± 4.3 ng/mL) than the control group (12.9 ± 1.4 ng/mL P < .05). The decreases in endocan, IL-17, and TSP-4 levels at the first month of treatment in both groups were also significant (P < .001). A combination of classical and these new biomarkers could be included in PAD screening, early diagnosis, severity determination, and follow-up protocols in order to provide effective assessment in clinical practice.

Do Patients With Arterial Occlusive Disease of Different Etiologies Benefit Equally From Cilostazol?

BACKGROUND: Cilostazol is a guideline-recommended drug that improves intermittent claudication and quality of life in patients with chronic atherosclerotic peripheral arterial disease. The drug is used for most etiologies of arterial occlusive diseases in clinical practice. This study aimed to evaluate whether patients benefit equally from cilostazol regardless of etiology. METHODS: Patients on cilostazol were divided into 4 groups according to arterial occlusive disease etiology: (1) atherosclerosis, (2) diabetic angiopathy, (3) embolism/thrombosis, and (4) Buerger disease. Patients' maximum walking distance, ankle-brachial index score and distal tissue oxygen saturation (Sto2), clinical improvement onset time, ability to reach maximum benefit time, vascular surgeries, and wounds were compared before they started cilostazol and after 12 months. Results were evaluated at a statistical significance of P < .05. RESULTS: In 194 patients, 307 target extremities were evaluated in the 4 disease groups. After cilostazol use, maximum walking distance, ankle-brachial index score, and distal Sto2 increased significantly in all groups (P < .001), but distal Sto2 in the diabetic angiopathy and Buerger disease groups was significantly lower than in the atherosclerosis group (P < .001). Ankle-brachial index and distal Sto2 differences in the Buerger disease group were significantly lower (both P < .001). The vascular surgery counts decreased significantly in the atherosclerosis and embolism/thrombosis groups (P = .019 and P = .004, respectively). CONCLUSION: Patients with nonatherosclerotic arterial occlusive disease also benefit from cilostazol, but patients with Buerger disease or diabetic angiopathy seem to benefit less. Combining cilostazol with anticoagulant or antiaggregant agents and closer monitoring of these patients may produce better results.

Surgical repair of non-obstructive supracardiac total anomalous pulmonary venous connection in an adult patient.

Total anomalous pulmonary venous connection is an uncommon congenital heart malformation with abnormal drainage of all pulmonary veins into the systemic venous system. Despite its very low incidence, it is usually a pediatric cardiac emergency and rarely allows survival into adulthood without surgical correction in infancy. Herein, we report one of the oldest cases from Turkey who was successfully operated for non-obstructive, supracardiac total anomalous pulmonary venous connection.