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Abstract Background Holt–Oram syndrome is a rare genetic disorder caused by a mutation in the TBX5 gene, combining skeletal and cardiac malformations. Vital prognosis depends essentially on cardiac involvement, while skeletal malformations determine functional prognosis. Case presentation We describe the case of a young patient aged 49, with no particular history, who presented to the emergency department with de novo congestive heart failure. Clinical examination revealed not only signs of heart failure, but also malformations such as triphalangia of the left thumb, prono-supination defects of both forearms and dorsolumbar scoliosis. The electrocardiogram showed that an atypical atrial flutter and transthoracic echocardiography revealed an atrial septal defect. We also performed a spinal scan to assess the severity of the scoliosis. Genetic studies confirmed a TBX5 gene mutation in the patient, and family screening revealed no similar cases in the family. Management consisted mainly of pharmacological treatment of heart failure, in addition to scoliosis management. Conclusion Holt–Oram syndrome is a rare genetic disorder which should be suspected in the presence of any upper limb anomaly associated with cardiac malformation and confirmed by genetic study. A family investigation is necessary after diagnosis, because of autosomal dominant inheritance.

Abstract Background Systemic sclerosis (SSc)-systemic lupus erythematosus (SLE) overlap syndrome is rarely described in the literature, and its morbidity and mortality remain high after the early onset of pulmonary arterial hypertension (PAH), which determines its severity. The epidemiology of SSc-SLE overlap syndrome is not well known. It is characterized by high clinical polymorphism, making its diagnosis difficult. Through this case, we underline the difficulty and delay in the diagnosis of this syndrome in a country with limited resources, as well as the difficulty of its management given the specificity of the treatment for each pathology and the risk of infections, which could limit their use. Case presentation We report the case of a 49-year-old North African female patient, initially followed for SSc for 8 years, whose diversity of symptoms masked the distinct disease. Indeed, her initial clinical presentation was in favor of SSc, but the discovery of a pericardial effusion stimulated us to carry out more investigations and correct the initial diagnosis. The involvement of the myocardium and pericardium, as well as the positive antibody serology tests, make it possible to retain the diagnosis of SSc-SLE overlap syndrome. Despite the introduction of treatment, the patient unfortunately died a month later after developing a multi organ failure following an opportunistic infection. Conclusions The management of SSc-SLE overlap syndrome can be complex, requiring good knowledge of these two pathologies, especially in immunocompromised patients with complications. Treatments based on corticosteroids and immunosuppressants may differ from one case to another, making their use difficult in a patient developing a cytomegalovirus (CMV) infection. These patients require urgent treatment before the onset of complications, at the risk of worsening the prognosis, with close collaboration between a cardiologist and an internist, given the multisystem involvement.

Abstract Background Kallmann–Morsier syndrome is a rare disease characterized by the association of congenital gonadotropic deficiency and anosmia or hyposmia. The cardiac manifestations associated with this syndrome are little known. Through this case, we will characterize the cardiac involvement of this disease in the light of what is already described in the literature. Case presentation We report the case of a young patient who presented with a picture of cardiac decompensation revealing restrictive heart disease. In her exploration, she was found to have primary amenorrhea, leading to the diagnosis of Kallmann syndrome. Medical treatment was optimized for the management of her cardiac decompensation as well as hormonal replacement treatment for her delayed puberty and growth. Conclusions Cardiac manifestations in Kallmann–Morsier syndrome are few reported in the literature, and restrictive heart disease is uncommon with no cases report till now. This association suggests a possible common genetic origin that should be explored in the future.

Abstract Background Ankylosing spondylitis (AS) is a type of chronic inflammation that is most prevalent in young adults and is characterized by an inflammatory enthesiopathy that gradually develops toward ossification and ankylosis. If inflammation is left unchecked, it can potentially lead to complications such as secondary amyloidosis, also known as AA amyloidosis, involving the deposition of amyloid serum A protein. Our case presents with a thyroid localization of AA amyloidosis which is secondary to this AS. Such a case has been described in only four cases in the literature. Cardiac localization of AA amyloidosis has been exceptionally described in the literature. Case presentation We report the case of a young patient with severe AS complicated by secondary amyloidosis with thyroid, cardiac, and probably renal localization. He was treated with anti-TNF therapy, and his condition improved significantly. Conclusions Our case presents several localizations of AA amyloidosis secondary to this AS. Although cardiac involvement is rare in secondary AA amyloidosis, it should always be screened for, even in a cardiacly asymptomatic patient.

Abstract Background Owing to challenges associated with heart failure and cardiac embolism, infectious endocarditis emerges as a critical pathology characterized by elevated mortality and morbidity rates. Our case stands out as a rare instance of endocarditis involving multisystem embolization, with a successful outcome. Case presentation We present the case of an 81-year-old man whose admission was further complicated by various septic emboli affecting the brain (manifesting as a brain abscess and ischemic stroke), spleen (resulting in splenic infarction), and spinal cord. The patient received a diagnosis of infective endocarditis affecting the native mitral valve. Following prompt medical and surgical intervention, the overall progression was favorable despite encountering several challenges. Conclusions This case is notable for its detailed description and analysis of the multiple embolic events. More importantly, it underscores the significance of timely surgical intervention and the collaborative approach of a heart team in the face of complicated endocarditis marked by numerous septic emboli. Despite the typically grim prognosis associated with such cases, the outcomes emphasize the positive impact of timely surgery on prognosis.

Abstract Background Coronary artery ectasia is a rare angiographic finding and results from a disease process that compromises the integrity of the vessel wall. Its prevalence ranges between 0.3% and 5% of patients undergoing coronary angiography (Swaye et al. in Circulation 67:134–138, 1983). Coronary artery ectasia in patients with ST-elevation myocardial infarction is associated with an increased risk of cardiovascular events and death after percutaneous coronary intervention. Case presentation We report the case of a 50-year-old male Caucasian patient, admitted for ventricular tachycardia at 200 beats per minute hemodynamically not tolerated that was reduced by external electric shock. Electrocardiogram after cardioversion showed a sinus rhythm with anterior ST-elevation myocardial infarction. Thrombolytic therapy was chosen after exposure to dual antiplatelet therapy and heparin since the expected time to percutaneous coronary intervention was greater than 120 minutes from first medical contact and the patient presented within 12 hours of onset of ischemic symptoms. The electrocardiogram after thrombolysis showed the resolution of the ST segment. The echocardiogram showed a dilated left ventricle with severe dysfunction with left ventricle ejection fraction at 30%. Coronary angiography revealed non-obstructive giant ecstatic coronaries without any thrombus. A check-up to look for possible etiologies for coronary artery ectasia was carried out and returned normal. Since no etiology for coronary artery ectasia was found at the limit of available exams in our center, the patient was discharged with antiplatelet therapy (aspirin 100 mg once a day) and heart failure treatment with an indication for an implantable cardiac defibrillator. Conclusions Coronary artery ectasia in the context of acute myocardial infarction is a rare condition that may have dangerous complications, especially when an optimal treatment for ecstatic culprit vessels is still controversial.