Traumatic ischaemic cardiomyopathy in a 27-year-old: a case report
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PROVIDER: S-EPMC10872682 | biostudies-literature | 2024 Feb
REPOSITORIES: biostudies-literature
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Project description:BackgroundRestrictive cardiomyopathy is rare and heterogeneous in origin, clinical manifestation, and prognosis. Familial forms have, amongst others, been associated with mutations in the TNNI3 gene. We present a case of familial restrictive cardiomyopathy associated with a novel TNNI3 mutation including longitudinal follow-up.Case summaryA 27-year-old woman was evaluated for fatigue in the context of a family history of sudden cardiac death. Echocardiography was normal except for mild left atrial dilatation. Focused genetic screening, limited to the most common genes associated with cardiomyopathy, was unremarkable in 2006. In biopsy, mild inflammatory cardiomyopathy was diagnosed, and the patient was discharged. Thirteen years later, rapid clinical deterioration occurred in the context of new-onset atrial fibrillation (AF). Echocardiography now showed gross bi-atrial dilatation and evidence of diastolic dysfunction. Based on haemodynamic tracings during angiography, a diagnosis of restrictive cardiomyopathy was made. In 2018, next-generation sequencing revealed the hitherto undescribed Troponin I variant Lys193Glu in a functionally critical domain. Haemodynamic stabilization was achieved by pulmonary vein isolation. Until now, the patient remains symptom free under diuretic treatment.DiscussionDiagnosis of restrictive cardiomyopathy is complicated by often oligosymptomatic early presentation and a diverse clinical picture. Thorough medical and family history and early invasive haemodynamic tracing are indispensable in diagnosis. Therapy-refractory AF should raise suspicion. Reporting of longitudinal follow-up cases is essential to better understand the early symptoms, development, and prognosis of this rare disease. Broad genetic testing in unclear cases has become more available and affordable and should be considered early in the diagnostic workflow.
| S-EPMC8843866 | biostudies-literature
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| S-EPMC9829511 | biostudies-literature
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| S-EPMC10562047 | biostudies-literature
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| S-EPMC10849747 | biostudies-literature
Project description:In this report we describe a young patient diagnosed with bulky FIGO stage IIIb squamous cell cervix carcinoma with severe and irreversible nephropathy after three weekly low-doses of cisplatin. Besides several known risk factors such as hypomagnesemia and hypoalbuminemia, the patient also proved to be homozygously polymorphic for two polymorphisms within the COMT gene (c.615 + 310C>T and c.616-367C>T). As COMT polymorphism has been associated with cisplatin-induced ototoxicity, its effect on nephrotoxicity of cisplatin should be the subject of further investigation.
| S-EPMC5555872 | biostudies-literature
Project description:Introduction and importancePost-traumatic ectopic nail (PTEN) refers to the abnormal growth of a new nail in a site other than the usual one, typically occurs after a trauma to the nail matrix. The exact pathogenesis is still unknown. This rare condition often affects the dorsal aspect of the phalanx. Surgical excision of the nail is the treatment of choice, with complete destruction of the nail matrix.Presentation of caseWe report a case of an 18-year-old female presenting to the clinic with an asymptomatic keratotic lesion on the lateral aspect of the distal phalanx after 3 years of digit trauma. X-ray imaging of the affected finger was normal, without any bony deformity. The ectopic nail was surgically excised with cauterization of the matrix to prevent relapse.Clinical discussionEctopic nails can be either congenital or acquired. Injuries can lead to PTEN formation by causing the germinal matrix to divide and implant into the skin. The ectopic nail in our case arises from the lateral aspect of the finger 3 years after trauma, which is an unusual occurrence.ConclusionThe ectopic nail causes an aesthetical concern, usually with no other symptoms. However, surgical excision is necessary, with emphasis on the importance of cauterizing the matrix to prevent future relapse.
| S-EPMC11525144 | biostudies-literature
Project description:Introduction: Takotsubo cardiomyopathy (TCM) or "stress cardiomyopathy" is an uncommon condition characterized by transient cardiac dysfunction with left ventricular apical ballooning in an appropriate clinical context. TCM has been observed in a variety of acute neurological conditions most prominently in patients with aneurysmal subarachnoid hemorrhage and status epilepticus. TCM has only been reported infrequently in association with traumatic brain injury (TBI). Herein we present a patient who developed TCM 3 days after hospital admission with severe TBI. Case Presentation: A 30-year-old male presented to the hospital with an acute subdural hematoma, anisocoria, declining consciousness and CT evidence of uncal herniation after being found down in a hotel room. The patient was taken emergently to the operating room for decompressive hemicraniectomy and hematoma evacuation. On the post-trauma day (PTD) 3, the patient developed acute dyspnea with increased oxygen requirements that improved with diuresis. On PTD 4, nursing staff noted T waive inversions (TWI) on the bedside monitor prompting an electrocardiogram (ECG) that showed a prolonged QTc interval and worsening TWI in leads I, II, aVL, and V2-6. Troponin I level was mildly elevated at 0.63ng/mL. Transthoracic echocardiography (TTE) was subsequently performed and showed a low ejection fraction (EF 26%) with apical hypokinesis and basal hyperkinesis, consistent with TCM. A diagnosis of TCM was confirmed by Cardiology consultation and he was started on a beta-blocker and an ACE inhibitor. Follow-up TTE on PTD 20 showed a normal left ventricular EF. Conclusion: While rarely reported in patients with TBI, TCM developed in an otherwise healthy young male following severe TBI necessitating decompressive hemicraniectomy. TTE should be considered in patients with TBI who have cardio-pulmonary symptoms or unexplained ECG abnormalities.
| S-EPMC8479872 | biostudies-literature
Project description:Takotsubo cardiomyopathy is characterized by acute and reversible severe left ventricular dysfunction due to intensive emotional or physical stress followed by catecholamine excess. Traditionally it is most common in postmenopausal women, whereas only few cases have been described in childhood. In our case a previously well 12-year-old boy presented with severe cardiogenic shock due to dramatically impaired left ventricular function requiring significant inotropic support and invasive mechanical ventilation. Interestingly, cardiac catheterization, myocardial tissue histology and biochemical laboratory tests did not yield a definitive diagnosis. As his cardiac function improved gradually within several days and deep sedation could be weaned, he was then found to suffer from hemiparesis and absence of protective airway reflexes on neurological examination during the weaning process. Subsequent brain imaging studies revealed a brainstem bleeding due to a fistulous arteriovenous malformation (AVM) appearing to be only a few days old. After endovascular coiling and subsequent microsurgical resection of the malformation, he recovered completely. Our present case demonstrated, that brainstem bleeding could precipitate Takotsubo cardiomyopathy manifesting hemodynamic collapse. Severe ventricular impairment has been described in many adults with subarachnoid hemorrhage; however, this condition is extremely rare among children. When severe cardiogenic shock is diagnosed, precipitating factors such as intracranial processes should be ruled out on a regular basis.
| S-EPMC8649596 | biostudies-literature
Project description:Roifman syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia, immunodeficiency, and retinal dystrophy. However, very rarely, with only one case reported to date, a patient with Roifman syndrome may develop cardiomyopathy in their lifetime. We reported a case with underdiagnosed Roifman syndrome confirmed by whole genome sequencing, manifested as non-ischaemic cardiomyopathy, which has broadened the association between non-ischaemic cardiomyopathy and the genetic disorder Roifman syndrome. We also underscored that cardiomyopathy might be part of the clinical manifestations of Roifman syndrome and the importance of whole genome sequencing for diagnosis, as RNU4ATAC is not targeted by many commercially available exome capture kits.
| S-EPMC10567627 | biostudies-literature
Project description:IntroductionTakotsubo or stress cardiomyopathy is a syndrome of transient left ventricular systolic dysfunction seen in the absence of obstructive coronary artery disease.Case reportWe describe a case of stress cardiomyopathy diagnosed in the emergency department (ED) using point-of-care ultrasound associated with traumatic hand amputation. The patient suffered a near-complete amputation of the right hand while using a circular saw, subsequently complicated by brief cardiac arrest with rapid return of spontaneous circulation. Point-of-care ultrasonography in the ED revealed the classic findings of takotsubo cardiomyopathy, including apical ballooning of the left ventricle and hyperkinesis of the basal walls with a severely reduced ejection fraction. After formalization of the amputation and cardiovascular evaluation, the patient was discharged from the hospital in stable condition 10 days later.ConclusionEmergency physicians should be aware of the possibility of stress cardiomyopathy as a cause for acute decompensation, even in isolated extremity trauma.
| S-EPMC9436489 | biostudies-literature