scholarly journals Neuromuscular diseases with hypertrophic cardiomyopathy

2018 ◽  
Vol 2018 (3) ◽  
Author(s):  
Sergi Cesar

[first paragraph of article]Neuromuscular disorders are frequently associated with cardiac abnormalities, even in pediatric population. Cardiac involvement includes both structural changes and conduction disease. In general, HCM is a rare manifestation of neuromuscular diseases. Autosomal dominant inheritance with mutations in sarcomeric genes are described in about 60% of young adults and adult population with HCM. Other genetic disorders, such as inherited metabolic and neuromuscular diseases and other chromosome abnormalities are responsible of 5–10% of HCM in adults. We review the most frequent neuromuscular diseases related with HCM.

2022 ◽  
Author(s):  
Alexandra Theisen ◽  
Martha Rodriguez

Abstract Background: Anti-neutrophil cytoplasm antibody (ANCA)-associated vasculitis is a term used to describe systemic vasculitides that affect small and medium-sized blood vessels. The three types of ANCA-associated vasculitis (AAV) are Granulomatosis with Polyangiitis (GPA), formerly Wegener’s granulomatosis , Microscopic Polyangiitis (MPA), and Eosinophilic Granulomatosis with Polyangiitis (EGPA), formerly Churg-Strauss, with clinical presentation most frequently involving the respiratory tract, the kidney, the skin and the joints. ANCA-associated vasculitis is rare in children, with estimated prevalence of 3-4 per million, and even more rare is the manifestation of cardiac abnormalities secondary to ANCA-associated vasculitis in the pediatric population. Case Presentation: We present the cases of two teenage males who presented with cardiac valvular lesions secondary to Granulomatosis with Polyangiitis in addition to sinus, pulmonary, renal, and cutaneous involvement. These findings of cardiac valvular abnormalities in GPA have rarely been described in the literature in pediatrics. Both patients were treated with rituximab, high-dose methylprednisolone, and plasma exchange (PLEX) and showed improvement in their disease manifestations. Conclusions: A review of the literature revealed only five pediatric cases of ANCA-associated vasculitis with cardiac manifestations, and interestingly, three of the five had valvular involvement. Subsequent valvular involvement makes obtaining the diagnosis of ANCA-Associated Vasculitis very difficult due to concern for underlying infectious endocarditis and can lead to misdiagnosis given the rarity of cardiac involvement in ANCA-associated vasculitis. Routine echocardiogram is not always completed in newly diagnosed GPA, yet cardiac involvement can lead to severe consequences as was seen with our first patient in the form of thromboembolic stroke. We discuss the importance of keeping AAV on the differential when cardiac lesions are present as well as the importance of regular cardiac screening in newly diagnosed patients with AAV, as it is a major factor of cardiac morbidity and mortality in the adult population and can contribute substantially to management decisions.


2020 ◽  
Vol 30 (2) ◽  
pp. 286-290 ◽  
Author(s):  
Corrado Angelini ◽  
Gabriele Siciliano

The risk of a severe course of COVID-19 is increased in patients suffering with Neuromuscular disorders (NMD) due to the following comorbidities: muscular weakness of the chest and diaphragm, use of ventilator supports and/or presence of tracheostoma, weak airway clearance, cardiac involvement, rhabdomyolysis, comoribities, steroid and immunosuppressant treatments. NMD display varying levels of disability in people with the same diagnosis, thus it is difficult to give COVID-19 related general recommendations. Present advicess were designed for patients, caregivers, general neurologists and non-specialist medical providers. They address frequently asked questions and basic service requirements and are supported by a series of in-depth references. In this truly unprecedented situation, the clinical management of neuromuscular patients during the COVID-19 epidemics - taking into account the related difficulties (patients who have suspended ERT, difficulty in contacting the doctors, etc.) - we propose to use a telemedicine device, i.e. the AIGkit application (AIGkit app), promoted and developed in 2018 by Fabrizio Seidita on behalf of the Italian Glycogenosis Association (AIG). The app was born to allow patients with Pompe disease to receive as far as possible continuous monitoring of their health. The support of all colleagues of the Italian Association for Myology (AIM) should extend its use to all NMD patients and beyond.


2020 ◽  
Vol 13 (3) ◽  
pp. 405-414
Author(s):  
Anne Troike Stratton ◽  
Richard Ogden Roberts III ◽  
Oren Kupfer ◽  
Terri Carry ◽  
Julie Parsons ◽  
...  

COVID-19, the respiratory and frequently systemic disease caused by the novel SARS-COV-2 virus, was first recognized in December 2019 and quickly spread to become a pandemic and world-wide public health emergency over the subsequent 3–4 months. While COVID-19 has a very low morbidity rate across approximately 80% of the population, it has a high morbidity and mortality rate in the remaining 20% of the population.1 These numbers have put a significant strain on medical systems around the world. Patients with neuromuscular diseases such as those with Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA), tend to be more medically fragile and have higher health care needs than the general population. Respiratory insufficiency, cardiac disease, obesity, and immunocompromised status due to chronic steroid treatments in certain patient populations with neuromuscular conditions are specific risk factors for severe COVID-19 disease. In general, the pediatric population has shown to be less severely impacted with lower infection rates and lower morbidity and mortality rates than the adult population, however, as expected, children with underlying medical conditions are at higher risk of morbidity from COVID-19 than their peers.2 Many patients with neuromuscular disease also rely heavily on caregiver support through their lifetime and thus maintaining the health of their primary caregivers is also a significant consideration in the health and well-being of the patients. This paper will address routine and emergency medical care, rehabilitation services, and other considerations for the pediatric patient with a neuromuscular condition during the COVID-19 pandemic.


Author(s):  
Sofie Rohde ◽  
Rahatullah Muslem ◽  
Emrah Kaya ◽  
Michel Dalinghaus ◽  
Jaap I. van Waning ◽  
...  

AbstractNoncompaction cardiomyopathy (NCCM) is a disease characterized by hypertrabeculation, commonly hypothesized due to an arrest in compaction during fetal development. In 2006, NCCM was classified as a distinct form of cardiomyopathy (CMP) by the American Heart Association. NCCM in childhood is more frequently familial than when diagnosed in adulthood and is associated with other congenital heart diseases (CHDs), other genetic CMPs, and neuromuscular diseases (NMDs). It is yet a rare cardiac diseased with an estimated incidence of 0.12 per 100.000 in children up to 10 years of age. Diagnosing NCCM can be challenging due to non-uniform diagnostic criteria, unawareness, presumed other CMPs, and presence of CHD. Therefore, the incidence of NCCM in children might be an underestimation. Nonetheless, NCCM is the third most common cardiomyopathy in childhood and is associated with heart failure, arrhythmias, and/or thromboembolic events. This state-of-the-art review provides an overview on pediatric NCCM. In addition, we discuss the natural history, epidemiology, genetics, clinical presentation, outcome, and therapeutic options of NCCM in pediatric patients, including fetuses, neonates, infants, and children. Furthermore, we provide a simple classification of different forms of the disease. Finally, the differences between the pediatric population and the adult population are described.


2006 ◽  
Vol 48 (10) ◽  
pp. 863
Author(s):  
Josef Finsterer ◽  
Claudia Stöllberger

2021 ◽  
Vol 11 (2) ◽  
pp. 39-49
Author(s):  
Letizia Spinelli ◽  
Giuseppe Giugliano ◽  
Giovanni Esposito

Cardiovascular disorders are the main complication in autosomal dominant polycystic kidney disease (ADPKD). contributing to both morbidity and mortality. This review considers clinical studies unveiling cardiovascular features in patients with ADPKD. Additionally, it focuses on basic science studies addressing the dysfunction of the polycystin proteins located in the cardiovascular system as a contributing factor to cardiovascular abnormalities. In particular, the effects of polycystin proteins’ deficiency on the cardiomyocyte function have been considered.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Qurratulain Chundriger ◽  
Muhammad Usman Tariq ◽  
Jamshid Abdul-Ghafar ◽  
Arsalan Ahmed ◽  
Nasir Ud Din

Abstract Background Kaposiform Hemangioendothelioma (KHE) is a rare vascular tumor of intermediate malignant potential which shows locally aggressive growth but only rarely metastasizes. It is mostly considered to be a tumor of pediatric population but its occurrence in the adults is not uncommon as once considered. Histologically, KHE can mimic other soft tissue neoplasms of different behaviors (e.g. Kaposi Sarcoma, hemangioma) and establishing the correct diagnosis is important for appropriate treatment. Herein, we describe the clinicopathological features of 8 cases of KHE which will be helpful in making their diagnosis. Methods We reviewed pathology reports, microscopy glass slides and obtained follow up information about 8 cases of KHE which were diagnosed at our institution from January 2008 till June 2020. Immunohistochemical stain for HHV8 was also performed. Results Age ranged from 7 months to 25 years. Seven patients were less than 20 years of age and one patient was 25 years old. Equal gender distribution was observed. Extremities were the most common sites of involvement, followed by head and neck, pancreas and ischiorectal region. 2 cases were resection specimen and all others were incisional biopsies. The largest tumor size was 5.5 cm in one of the resections. The incisional/fragmented tissues were all less than 5 cm in aggregate. Most cases showed predominance of nodular growth and a minor component of spindle cell population along with lymphangiomatosis like vascular channels, with evidence of microthrombi in 2 cases. Few multinucleated giant cells were observed in 2 cases. None of the cases exhibited significant nuclear atypia or mitotic activity. One of the cases arising in dermis showed underlying bone involvement. HHV8 was negative in 7/7 cases. Conclusions KHE can also involve adult population and it should always be considered in the differential diagnoses of a vascular lesion. Presence of multinucleated giant cells is a rare finding. Knowledge about histological features and potential mimics is helpful in avoiding misdiagnosis.


2008 ◽  
Vol 11 (2) ◽  
pp. 85-105 ◽  
Author(s):  
Megan K. Dishop ◽  
George B. Mallory ◽  
Frances V. White

Lung transplantation offers life-saving and life-extending treatment for children and adolescents with congenital and acquired forms of pulmonary and pulmonary vascular disease, for whom medical therapy is ineffective or insufficient for sustained response. This review summarizes the pathology related to lung transplantation for the practicing pediatric pathologist and also highlights aspects of lung transplantation unique to the pediatric population. Clinical issues related to availability of organs, candidate eligibility, surgical technique, and postoperative monitoring are discussed. Pathologic evaluation of routine surveillance transbronchial biopsies requires attention to acute cellular rejection, opportunistic infection, and other forms of acute and resolving lung injury. These findings are correlated in some cases with endobronchial biopsies and bronchoalveolar lavage as adjunctive tools in surveillance. Open or thoracoscopic biopsies also have diagnostic utility in cases with acute or chronic graft deterioration of uncertain etiology. Future challenges in pediatric lung transplantation are similar to those in the adult population, with continued efforts focused on prolonging graft survival, prevention of bronchiolitis obliterans syndrome due to chronic cellular rejection, and evaluation of humoral rejection.


2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Alexa José Escudero Siosi ◽  
Hudaifa Al Ani ◽  
Antoni Chan

Abstract Case report - Introduction Coronavirus (SARS-COV-19) typically targets the respiratory tract; however extra-respiratory manifestations such as myositis and myopericarditis may be the only presenting feature. We present a patient with myopericarditis who developed sudden onset muscle weakness. CT thorax showed typical appearance of COVID-19 with an absence of respiratory symptoms. MRI of both thighs revealed diffuse symmetrical myositis. Her clinical and paraclinical abnormalities improved with the aid of steroids. We present our approach to the case and highlight that clinicians should consider myositis as another COVID-19 manifestation when reviewing the differentials. Case report - Case description A 50-year-old female, non-smoker, presented with few days history of central chest pain radiating to her back. This was exacerbated by lying down and inspiration. Associated with mild shortness of breath on exertion. She denied upper respiratory tract symptoms. Her past medical history included hypertension and myopericarditis in 2012 and 2013 requiring pericardiocentesis. In 2017 she presented with post-streptococcal erythema nodosum and reactive arthritis in left ankle. On auscultation her heart sounds were normal, and chest was clear. Initial investigations revealed a mild lymphopenia 0.63, a C-reactive protein of 11mg/L, and a raised troponin 77 and 103 on repeat. D-dimer, Chest x-ray were normal. ECHO showed trivial anterior pericardial effusion, good biventricular function. Treatment included colchicine 500 micrograms four times a day and Ibuprofen 400 mg three times a day. On her second day of admission she developed hypotensive episodes BP 75/49 mm/Hg and mild pyrexia of 37.5 degrees. Her chest pain continued. Electrocardiogram was normal, repeat echocardiogram showed stable 1.40 cm pericardial effusion. CT thorax revealed no dissection or features suggesting pulmonary sarcoidosis but ground-glass opacity changes in keeping with COVID-19. Her COVID-19 swab test came back positive. On the 4th day of admission, she complained of sudden onset of severe pain affecting her thighs, shoulders, and arms, with marked proximal lower limbs and truncal weakness. Because of this, she struggled to mobilise. There was a rapid rise in her creatine kinase from 6.423U/L (day 5) to 32.230 U/L (day 7). ALT increased to 136. MRI showed diffuse myositis with symmetrical appearances involving the anterior, medial, and posterior muscle compartments of both thighs. In view of her previous and current presentation, autoimmune screen and extended myositis immunoblot were sent and were negative. Interestingly, her clinical and paraclinical abnormalities improved dramatically after few days with no steroids initially. Case report - Discussion The identification of extra-pulmonary manifestations neurological, cardiac, and muscular have recently increased as the number of COVID-19 cases grow. This case highlights cardiac and skeletal muscle involvement could perhaps represent early or only manifestation of COVID-19. Cardiac involvement in COVID-19 commonly manifests as acute cardiac injury (8–12%), arrhythmia (8.9–16.7%) and myocarditis. In our case the cardiac MRI demonstrated evidence of myocarditis in the basal inferoseptum and apex. Myalgia and muscle weakness are among the symptoms described by patients affected by COVID-19. Some studies report the prevalence of myalgia to be between 11%-50%. The onset of symptoms and the fact that her symptoms improved rapidly led us to consider a viral myositis as the underlying cause, the viral component being COVID-19. We also considered other potential causes. There are reported cases of colchicine myopathy however this is more common in patients with renal impairment, which was absent in this case. On further examination she did not have other clinical signs or symptoms of connective tissue disease or extra muscular manifestation of autoimmune myositis. Her abnormal ALT may be derived from damaged muscle, and therefore in this context is not necessarily a specific indicator of liver disease. Interestingly abnormal liver function tests have been attributed in 16 - 53% of COVID-19 cases. Little is known about the multiple biologic characteristics of COVID-19 and there are no established clinic serological criteria for COVID-19 related myositis nor useful values/cut offs to exclude cardiac involvement in myositis, further research is therefore warranted. In conclusion, clinicians should be aware of the rare manifestation of COVID-19 and consider this in the differentials. Of course, it is important in the first instant to rule out any serious underlying disease or overlap disorder before attributing symptoms to COVID-19. Case report - Key learning points  Myositis is a rare manifestation of COVID-19 that clinicians should be aware of.Detailed medical history, examination and investigations identifies the most likely underlying cause.In the right clinical context, COVID-19 – 19 testing should be included in baseline tests of patients presenting with myositis.


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