Genetics of cardiomyopathies: cardiac manifestations of genetic mitochondrial diseases

ESC CardioMed ◽  
2018 ◽  
pp. 705-710
Author(s):  
Abdallah Fayssoil

Mitochondrial disorders are multisystemic and heterogeneous diseases. Their clinical phenotype is a consequence of a defect in the respiratory chain due to genetic disorders. The first case was reported by Luft and colleagues in 1960. Today, the prevalence of mitochondrial diseases is estimated to be 1:5000. Symptoms may appear at any age and the disease may affect any organ. The heart can be involved in different ways from cardiomyopathy to life-threatening arrhythmia. The management is based on a multidisciplinary approach with genetic counselling being fundamental. This chapter reviews the mitochondrial physiology, the clinical features, and diagnosis of mitochondrial disorders, with a particular focus on cardiac involvement, its management, and prognostic factors.

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Sheetal Sharda ◽  
Inusha Panigrahi ◽  
Ram Kumar Marwaha

There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of these syndromes is still lacking. The common obesity syndromes are Bardet-Biedl, Prader-Willi, Alstrom, Albright's hereditary osteodystrophy, Carpenter, Rubinstein-Taybi, Fragile X, and Börjeson-Forssman-Lehman syndrome. The list is ever increasing as new syndromes are being added to it. One of the recent additions is MOMO syndrome, with about five such cases being reported in literature. Expanding the spectrum of clinical features, we report the first case of MOMO syndrome from India with lobar variant of holoprosencephaly and cryptorchidism, which have not been reported previously.


Author(s):  
Deepak Kumar ◽  
Suresh Bishnoi ◽  
Durga Shankar Meena ◽  
Gopal Krishana Bohra ◽  
Naresh Midha ◽  
...  

Background: Cryptococcal meningitis is a dreaded complication in HIV infected patients. It was associated with high mortality and morbidity before the advent of Highly Active Anti-Retroviral Therapy. A study was planned in our institute to evaluate the clinical profile, laboratory findings, and prognostic factors for survival in these patients. Settings and Design: A prospective hospital-based observational study, conducted in the Department of Medicine at a tertiary care centre in western Rajasthan. Method and Material: HIV infected patients presenting with clinical features of meningitis, and positive CSF culture for Cryptococcus were included in our study. All cases underwent detailed clinical history, physical examinations and relevant laboratory investigations including CD4 count and CSF examination. Results: 48 HIV infected cryptococcal meningitis patients were analysed, and the most common presenting clinical features were headache (85.42%), and fever (72.92%), followed by neck stiffness (62.50%). CSF examination was also done for Cryptococcal Antigen test which was reactive in all cases (100%), and India ink staining was positive in 43 cases (89.58%). Significant fatal outcome was associated with patients presenting with altered sensorium, loss of consciousness, cranial nerve palsy and CD4 cell count of less than 100. Similarly, on laboratory and imaging diagnosis, cryptococcal antigen test (>3+reactive), fundus examination (papilloedema) and abnormal CT/MRI brain imaging were associated with poor survival. Conclusion: Cryptococcal meningitis is a potentially lethal infection in immunocompromised individuals and should be diagnosed early with high clinical suspicion as around 10% of the cases may not be detected on India ink staining and a large proportion (75%) of cases may have normal imaging at initial evaluation. Early diagnosis, watchful eye on prognostic factors and treatment is vital to improve outcome in these patients.


Open Medicine ◽  
2021 ◽  
Vol 16 (1) ◽  
pp. 169-174
Author(s):  
Lei Lei ◽  
Liu Yang ◽  
Yang-yang Xu ◽  
Hua-fei Chen ◽  
Ping Zhan ◽  
...  

Abstract Hepatoid adenocarcinoma of the lung (HAL) is a rare malignant tumor that is defined as a primary alpha-fetoprotein (AFP)-producing lung carcinoma. We aimed to identify prognostic factors associated with the survival of patients with HAL using data from the Surveillance, Epidemiology, and End Results (SEER) database. We collected data from patients diagnosed with HAL, adenocarcinoma (ADC), and squamous cell carcinoma (SCC) of the lung between 1975 and 2016 from the SEER database. The clinical features of patients with ADC and SCC of the lung were also analyzed. The clinical features of HALs were compared to ADCs and SCCs. A chi-square test was used to calculate the correlations between categorical variables, and a t test or Mann–Whitney U test was used for continuous variables. The Kaplan–Meier method and Cox regression analysis were used to identify the prognostic factors for the overall survival (OS) of HALs. Two-tailed p values < 0.05 were considered statistically significant. Sixty-five patients with HAL, 2,84,379 patients with ADC, and 1,86,494 with SCC were identified from the SEER database. Fewer males, advanced stages, and more chemotherapy-treated HALs were found. Compared to patients with SCC, patients with HAL were less likely to be male, more likely to be in an advanced stage, and more likely to receive chemotherapy (p < 0.05). The American Joint Committee on Cancer staging was the only prognostic factor for OS in patients with HAL, and stage IV was significantly different from other stages (hazard ratio = 0.045, 95% confidence interval: 0.005–0.398, p = 0.005). Males with HAL were more likely to receive radiotherapy compared to females with HAL (61.8 vs 31.5%, p = 0.034). Younger patients with HAL were more likely to receive chemotherapy (59.4 + 10.2 years vs 69 + 11.3 years, p = 0.001). The primary tumor size of HAL was associated with the location of the primary lesion (p = 0.012). No conventional antitumor therapies, including surgery, chemotherapy, and radiotherapy, were shown to have a significant survival benefit in patients with HAL (p > 0.05). This study showed that stage IV was the only prognostic factor for OS in HALs compared to other clinicopathologic factors. Conventional antitumor therapies failed to show survival benefit; thus, a more effective method by which to treat HAL is needed. Interestingly, the clinical features and the location of the primary lesion were shown to be associated with primary tumor size and treatment in patients with HAL, which have not been reported before.


2021 ◽  
pp. 106689692110160
Author(s):  
Mingfei Yan ◽  
Mark Rodgers ◽  
Aparna Harbhajanka ◽  
Hannah Gilmore

Breast amyloidosis is a rare condition which is mostly associated with hematological disorders or hereditary genetic disorders. Imaging findings of breast amyloidosis can mimic malignancy, which often leads to biopsy or excision of the lesion. Here, we presented a case of localized lactotransferrin-related breast amyloidosis in an elderly female patient. Histologic examination revealed extensive involvement of breast lobules by amorphous amyloid materials, with attenuation of lobular structures and prominent calcifications. Positive immunostains for myoepithelial cells helped to exclude the possibility of invasive carcinoma. The patient had no hematologic malignancy besides immunoglobulin G lambda monoclonal gammopathy of undetermined significance. Mass spectrometry of the breast amyloid identified lactotransferrin and no immunoglobulin or its light chain. On follow-up, the patient showed no recurrence of the breast lesion after local excision nor showed other systematic comorbidities, indicating the benign nature of the lesion. This first report of lactotransferrin-related amyloidosis may represent a special type of localized breast amyloidosis that has no correlation with systematic disorders.


2020 ◽  
Vol 12 (04) ◽  
pp. 281-284
Author(s):  
Sawsan A. Mohammed ◽  
Azza A. Abdelsatir ◽  
Mohamed Abdellatif ◽  
Suliman Hussein Suliman ◽  
Omer Mohammed Ibrahim Elbasheer ◽  
...  

AbstractsBasidiobolomycosis is a fungal infection caused by Basidiobolus ranarum which affects the skin and subcutaneous tissue and rarely the gastrointestinal tract. We report seven cases of gastrointestinal basidiobolomycosis with interesting clinical, radiological, and histological presentations. To our knowledge, this is the first case series of abdominal basidiobolomycosis to be reported from Sudan.


2021 ◽  
Vol 10 (6) ◽  
pp. 1249
Author(s):  
Daniele Orsucci ◽  
Elena Caldarazzo Ienco ◽  
Andrea Rossi ◽  
Gabriele Siciliano ◽  
Michelangelo Mancuso

In the last ten years, the knowledge of the genetic basis of mitochondrial diseases has significantly advanced. However, the vast phenotypic variability linked to mitochondrial disorders and the peculiar characteristics of their genetics make mitochondrial disorders a complex group of disorders. Although specific genetic alterations have been associated with some syndromic presentations, the genotype–phenotype relationship in mitochondrial disorders is complex (a single mutation can cause several clinical syndromes, while different genetic alterations can cause similar phenotypes). This review will revisit the most common syndromic pictures of mitochondrial disorders, from a clinical rather than a molecular perspective. We believe that the new phenotype definitions implemented by recent large multicenter studies, and revised here, may contribute to a more homogeneous patient categorization, which will be useful in future studies on natural history and clinical trials.


2021 ◽  
Vol 42 (5) ◽  
pp. 103027
Author(s):  
Yi Wang ◽  
Tongli Ren ◽  
Jianghua Jing ◽  
Na Gao ◽  
Hui Zhao ◽  
...  

2015 ◽  
Vol 56 (11) ◽  
pp. 3090-3095 ◽  
Author(s):  
Lionel Kerhuel ◽  
Sandy Amorim ◽  
Elie Azoulay ◽  
Catherine Thiéblemont ◽  
Emmanuel Canet

2021 ◽  
Vol 7 (1) ◽  
pp. 205511692110059
Author(s):  
Michal Vlasin ◽  
Richard Artingstall ◽  
Barbora Mala

Case summary This paper presents two cases of acute postoperative upper airway obstruction following ventral bulla osteotomy (VBO) in cats. The first cat underwent a unilateral left-sided VBO for a suspected inflammatory polyp. The second cat underwent a single-session bilateral VBO procedure for bilateral otitis media. In the first case, immediate re-intubation and a gradual lightening of the anaesthetic plane resolved the clinical signs; in the second case, the patient deteriorated and went into acute cardiorespiratory arrest and received cardiopulmonary resuscitation. Both patients recovered well and were discharged home 3 days after surgery. Both cases were reported to show no further clinical signs on postoperative follow-up 3 weeks and 4 months after surgery, respectively. Relevance and novel information Upper airway obstruction should be regarded as a potential complication of VBO in cats.


2016 ◽  
Vol 263 (5) ◽  
pp. 981-990 ◽  
Author(s):  
Cécile-Audrey Durel ◽  
Romain Marignier ◽  
Delphine Maucort-Boulch ◽  
Jean Iwaz ◽  
Emilie Berthoux ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document