Interstitial 5q22 deletions are relatively rare and usually represented by severe clinical features such as developmental delay and growth retardation. Here, we report a 23-year-old male patient, referred to our laboratory for genetic confirmation of possible familial adenomatous polyposis. MLPA and the subsequent array CGH identified an approximately 8-Mb-sized deletion in the 5q22.2q23.1 locus. Further analysis of the deleted region and the genes within suggested a possible role for the TSSK1B (testis-specific serine/threonine kinase 1) gene in the patient's reproductive capacity. Semen analysis confirmed that the patient's reproductive capability was impaired, and that he suffered from asthenoteratozoospermia. Analysis of the azoospermia factor region on the Y chromosome revealed no microdeletions. Further sequencing tests could not find an alternative explanation for the patient's infertility. This case demonstrates a possible role of TSSK1B in male reproduction.

Background Significant uncertainty exists about the optimal timing of surgery for infectious endocarditis (IE) surgery in patients with active SARS-CoV-2 infection. This case series and a systematic review of the literature were carried out to evaluate the timing of surgery and postsurgical outcomes for patients with COVID-19–associated IE. Methods The PubMed database was searched for reports published from June 20, 2020, to June 24, 2021, that contained the terms infective endocarditis and COVID-19. A case series of 8 patients from the authors' facility was also added. Results A total of 12 cases were included, including 4 case reports that met inclusion criteria in addition to a case series of 8 patients from the authors' facility. Mean (SD) patient age was 61.9 (17.1) years, and patients were predominantly male (91.7%). Being overweight was the main comorbidity among patients studied (7/8 [87.5%]). Among all patients evaluated in this study, dyspnea (n = 8 [66.7%]) was the leading symptom, followed by fever (n = 7 [58.3%]). Enterococcus faecalis and Staphylococcus aureus caused 75.0% of COVID-19–associated IE. The mean (SD) time to surgery was 14.5 (15.6) days (median, 13 days). In-hospital and 30-day mortality for all evaluated patients was 16.7% (n = 2). Conclusion Clinicians must carefully assess patients diagnosed with COVID-19 to prevent missing underlying diseases such as IE. If IE is suspected, clinicians should avoid postponement of crucial diagnostic and treatment steps.

Background and Objectives: Transaxillary access is one of the latest innovations for minimally invasive aortic valve replacement (MICS-AVR). This study compares clinical performance in a large transaxillary MICS-AVR group to a propensity-matched sternotomy control group. Materials and Methods: This study enrolled 908 patients undergoing isolated AVR with a mean age of 69.4 ± 18.0 years, logistic EuroSCORE of 4.0 ± 3.9%, and body mass index (BMI) of 27.3 ± 6.1 kg/m2. The treatment group comprised 454 consecutive transaxillary MICS-AVR patients. The control group was 1:1 propensity-matched out of 3115 consecutive sternotomy aortic valve surgeries. Endocarditis, redo, and combined procedures were excluded. The multivariate matching model included age, left ventricular ejection fraction, logistic EuroSCORE, pulmonary hypertension, coronary artery disease, chronic lung disease, and BMI. Results: Propensity-matching was successful with subsequent comparable clinical baselines in both groups. MICS-AVR had longer skin-to-skin time (120.0 ± 31.5 min vs. 114.2 ± 28.7 min; p < 0.001) and more frequent bleeding requiring chest reopening (5.0% vs. 2.4%; p < 0.010), but significantly less packed red blood cell transfusions (0.57 ± 1.6 vs. 0.82 ± 1.6; p = 0.040). In addition, MICS-AVR patients had fewer access site wound abnormalities (1.5% vs. 3.7%; p = 0.038), shorter intensive care unit stays (p < 0.001), shorter ventilation times (p < 0.001), and shorter hospital stays (7.0 ± 5.1 days vs. 11.1 ± 6.5; p < 0.001). No significant differences were observed in stroke > Rankin 2 (0.9% vs. 1.1%; p = 0.791), renal replacement therapy (1.5% vs. 2.4%; p = 0.4762), and hospital mortality (0.9% vs. 1.5%; p = 0.546). Conclusions: Transaxillary MICS-AVR is at least as safe as AVR by sternotomy and can be performed in the same time frame. Its advantages are fewer transfusions and quicker postoperative recovery with a significantly shorter hospital stay. The cosmetic result and unrestricted physical abilities due to the untouched sternum and ribs are unique advantages of transaxillary access.

Background Pyoderma gangrenosum after cardiac surgery is a rare, noninfectious ulcerating skin disease mimicking sternal wound infection. Methods A systematic search of literature for pyoderma gangrenosum complicating cases of cardiac surgery was conducted between September 1985 and September 2020 on PubMed and Cochrane databases. A systematic review and detailed overview of clinical presentation, diagnostic, treatment, and outcome is provided. Results A total of 15 studies enclosing 15 patients suffering from pyoderma gangrenosum following cardiac surgery were identified. Onset of symptoms was observed after a median of 5 days. Patients were predominantly male (81.3%) with a median age of 64 years. Typical clinical presentation mimicked sternal site infection, mainly by means of mediastinitis. Specific signs were rapid progression, erythematous to violaceous color of the wound border, accompanied by unspecific symptoms including fever, malaise, and severe pain. Additionally, pathergy (development of ulcers at the sites of minor cutaneous trauma) was reported frequently. Biopsy is mandatory with a cutaneous neutrophilic inflammation confirming the diagnosis. Initial treatment mostly (75.0% of reported cases) was misled, addressing suspicion of surgical site infection. After correct diagnosis, the treatment was switched to an immunosuppressive therapy. Full sternal wound closure took between 5 weeks and 5 months. Reported case mortality was 12.5% in actually low-risk surgeries. Conclusion Despite pyoderma gangrenosum has typical signs, it remains an exclusion diagnosis. The treatment is completely opposite to the main differential diagnosis—the typical surgical site infection. Knowledge about diagnosis and treatment is essential in the context of avoiding fatal mistreatment.

Treatment of infective endocarditis can often prove challenging due to its wide range of anatomical presentations. When complicated by an aortic root abscess, patients may require extensive root surgery, which on its own leads to a worse outcome. We present our experience with a surgical technique for reinforcing the aortic annulus with a ring from a Dacron aortic prosthesis placed in the left ventricular outflow tract to avoid the need for root replacement procedures or patch closures of the defect. The technique described in this paper provides a viable alternative to the standard techniques used for the treatment of annular abscesses in aortic valve endocarditis. Due to the relative simplicity and ease of use, this approach may present a means of reducing operation time and possibly postoperative complications of this severe condition.