Defects in nine sarcomeric protein genes are known to cause hypertrophic cardiomyopathy (HCM). Mutation types and frequencies in large cohorts of consecutive and unrelated patients have not yet been determined. We, therefore, screened HCM patients for mutations in six sarcomeric genes: myosin-binding protein C3 (MYBPC3), MYH7, cardiac troponin T (TNNT2), alpha-tropomyosin (TPM1), cardiac troponin I (TNNI3), and cardiac troponin C (TNNC1). HCM was diagnosed in 108 consecutive patients by echocardiography (septum >15 mm, septal/posterior wall >1.3 mm), angiography, or based on a state after myectomy. Single-strand conformation polymorphism analysis was used for mutation screening, followed by DNA-sequencing. A total of 34 different mutations were identified in 108 patients: 18 mutations in MYBPC3 in 20 patients [intervening sequence (intron) 7 + 1G > A and Q1233X were found twice], 13 missense mutations in MYH7 in 14 patients (R807H was found twice), and one amino acid change in TPM1, TNNT2, and TNNI3, respectively. No disease-causing mutation was found in TNNC1. Cosegregation with the HCM phenotype could be demonstrated for 13 mutations (eight mutations in MYBPC3 and five mutations in MYH7). Twenty-eight of the 37 mutation carriers (76%) reported a positive family history with at least one affected first-grade relative; only eight mutations occurred sporadically (22%). MYBPC3 was the gene that most frequently caused HCM in our population. Systematic mutation screening in large samples of HCM patients leads to a genetic diagnosis in about 30% of unrelated index patients and in about 57% of patients with a positive family history.

Purpose This study aims to evaluate the use of handheld ultrasound devices (HHUS) for point-of-care ultrasound (POCUS) to improve outpatient care in rural Brandenburg. Materials and Methods A group of general practitioners (n = 9), palliative care physicians (n = 6), emergency physicians (n = 4), and nurses from palliative care services (n = 5) participated in this study. Following a 3-hour workshop and 2 weeks of individual training, participants performed POCUS using HHUS (HH-POCUS). Indications, examination results, and resulting treatment changes (e. g., acute interventions, new medication) were documented in a standardized data entry form. Results 19 physicians with different ultrasound experience and 5 palliative care nurses attended the workshop program and took part in the study. Three of the participating physicians were out of training in ultrasound and received prolonged supervision. Among 427 HH-POCUS examinations, the FAST scan and kidney scan were performed most often. Pain and dyspnea were the most common indications for HH-POCUS. Among the examinations performed by physicians (n = 311), ascites was the most common pathology (27 % of cases). Using a simplified examination protocol, palliative care nurses diagnosed fluid collections, hydronephrosis and transurethral catheter position or urinary retention. In 80.4 % of physician-performed cases, HH-POCUS made a valuable impact on patient management. HH-POCUS contributed to treatment decisions in 49.5 % of cases, including a change of medication in 29.6 % and performance of therapeutic interventions in 19.9 %. Hospital admission or referral to an ambulatory specialist was initiated due to HH-POCUS findings in 17.7 % of patients. Conclusion HH-POCUS helped doctors in rural areas to optimize patient care through rapid on-site collection of therapeutically relevant findings. In addition, it was shown that specialized and motivated nurses can independently detect simple ultrasound findings and thus provide clinically relevant information to doctors.

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