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Hypertrophic cardiomyopathy (HCM) is caused by myocardial hypertrophy, often due to mutations in cardiac sarcomere protein genes such as beta-myosin heavy chain (MYH7) and myosin-binding protein C (MYBPC3). However, a significant proportion of HCM cases lack identified genetic mutations, and genotype-phenotype correlations remain unclear. Concurrently, potential associations between HCM and human leukocyte antigen (HLA) types, as well as connective tissue diseases, have been proposed. In this single-center study, we aimed to investigate the genetic and HLA profiles of patients with obstructive hypertrophic cardiomyopathy (HOCM) and connective tissue diseases, particularly focusing on the prevalence of genetic variants and HLA types. We conducted a detailed analysis of five patients with HOCM and connective tissue diseases and sarcoidosis, identifying rare variants in causative genes for HCM in two cases and observing specific HLA types that were relatively common. Notably, 15% of all HOCM cases presented with connective tissue diseases, mainly rheumatoid arthritis. These findings underscore the complexity of HCM etiology and suggest potential implications for both diagnostic strategies and therapeutic approaches in patients with concomitant inflammatory conditions.

The posterior circumflex humeral artery, a branch of the axillary artery, is compressed by the humeral head during repeated abduction and external rotation of the shoulder joint owing to its anatomical structure. This damages the vascular endothelium, resulting in thrombi, arterial dissection, and aneurysms, a condition known as posterior, circumflex humeral artery pathological lesions. A thrombus may form at the site and becomes a peripheral embolus, resulting in peripheral arterial occlusion.A 21-year-old right-handed elite man college volleyball player noticed coldness and pain in his right hand during a game. Cyanosis was present except in the middle finger, and the beating radial artery was palpable; however, the ulnar artery was not. Doppler ultrasound examination revealed thrombus occlusion of the ulnar artery and common palmar artery of the index finger. Peripheral arterial occlusion was diagnosed due to embolization of a thrombus from this site. The patient stopped practicing volleyball immediately after the onset of symptoms and was started on cilostazol 200 mg and rivaroxaban 15 mg. Subjective coldness of the fingers improved one week after the start of treatment. The patient resumed practice four weeks after the start of treatment and participated in a game by the seventh week.Posterior circumflex humeral artery pathological lesions are caused by overhead motions such as pitching. They are most commonly reported in athletes playing volleyball, although rare, and many cases of aneurysm formation have been reported.Observing a cold sensation in the periphery after practice is necessary for screening.

Abstract Background Nilotinib, a second-generation BCR-ABL tyrosine kinase inhibitor (TKI), is highly effective in the treatment of patients with chronic myeloid leukemia (CML), despite being more vasculotoxic than older TKIs such as imatinib. Herein, we present a case of nilotinib-associated vasospastic angina confirmed by an acetylcholine spasm provocation test. Case presentation A 62-year-old CML patient treated with 300 mg nilotinib twice daily complained of several episodes of rest angina and was hospitalized at our institution. Coronary angiography revealed no severe organic stenosis, and the acetylcholine spasm provocation test confirmed the diagnosis of vasospastic angina. Although treatment with a calcium channel blocker and nicorandil reduced the frequency of chest pain, angina symptoms continued to occur. At 10 months post discharge, the patient complained of increased frequency of angina; therefore, the nilotinib dosage was reduced to 150 mg twice daily. Consequently, the patient reported a significant improvement in chest symptoms. Conclusions This case report highlights the potential vasculotoxic effects of nilotinib. Cardiologists and hematologists should be vigilant for coronary artery spasm as a possible vascular adverse event caused by nilotinib.

Abstract Atypical aortic coarctation is a rare condition associated with Takayasu arteritis, and is characterized by symptoms caused either by hypotension in the lower half of the body or secondary hypertension in the upper half of the body, and heart failure. We report a rare case of axillofemoral bypass to improve congestive heart failure for atypical aortic coarctation complicating Takayasu arteritis. Augmented vascular bed and retrograde renal blood flow after axillofemoral bypass surgery could achieve effective blood pressure control and improve renal function and cardiac function (LVEF: 30% → 55%, BNP: 2943 pg/mL → 128 pg/mL). There were two contributing factors for improvement of heart failure such as the increased vascular bed and the increase in retrograde renal blood flow. We believe that axillofemoral bypass is effective for Takayasu arteritis patients with refractory heart failure. In daily practice, careful attention should be paid to an impact of cardiorenal‐aorta interaction in atypical aortic coarctation complicating Takayasu arteritis.