scholarly journals Duchenne Muscular Dystrophy - Case Report

2021 ◽  
Author(s):  
Tainara Emanuele Rossoni ◽  
Ranieri Alvin Stroher Junior ◽  
Bruna Hoeller
Keyword(s):  
Case Report ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Left Ventricular Systolic Dysfunction ◽  
Systolic Dysfunction ◽  
Palliative Therapy ◽  
Clinical Manifestations ◽  
Left Ventricular ◽  
Movement Restriction ◽  
Cardiorespiratory Failure

Context: Duchenne Muscular Dystrophy (DMD) is an inherited recessive disease linked to the X chromosome, it is a progressive neuromuscular disease most prevalent in the world, affecting 1/3600 male births. It is associated with mutations that lead to loss of dystrophin protein expression, loss of severe muscle, respiratory and cardiac failure. At birth, the signs are generally nonspecific. At 3 years of age there is the appearance of specific changes, starting with muscle weakness, which occurs in an ascending, symmetrical and bilateral manner, becoming evident at around 5 years of age, with difficulty walking, jumping and running, in addition to frequent falls. The disease progresses with cardiorespiratory failure, leading to death between 18 and 25 years. Case Report: Male, 3 years old, with frequent falls, difficulty climbing stairs and rising from the floor, even with support, medical guidance for expectant conduct. At 5 years, clinical worsening, investigation of the condition, changes alteration in the creatinophosphokinase test (8918 U / L), suggesting a hypothesis of Muscular Dystrophy. Karyotype performed, with revelation of genetic changes compatible with DMD. Family heredogram, showing a brother without traits for DMD and a mother with an allele for the disease. The patient evolved with progressive loss of motor functions, reaching inability to move around at 9 years of age and the appearance of cardiac changes - left ventricular systolic dysfunction and extrasystoles. Currently, the patient presents marked movement restriction and undergoes palliative treatment. Conclusions: A DMD relies only on palliative therapy, the recognition of the initial clinical manifestations is essential for its investigation, diagnosis and early treatment, enabling improvement in quality and life expectancy.

Predictors of early left ventricular systolic dysfunction in duchenne muscular dystrophy patients

2018 ◽  
Vol 58 (1) ◽  
pp. 84-89 ◽  
Author(s):  
Raphael Henrique Déa Cirino ◽  
Rosana Herminia Scola ◽  
Renata Dal-Prá Ducci ◽  
Ana Cristina Camarozano Wermelinger ◽  
Claudia Suemi Kamoi Kay ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Left Ventricular Systolic Dysfunction ◽  
Systolic Dysfunction ◽  
Left Ventricular ◽  
Ventricular Systolic Dysfunction

Abstract 15784: Left Ventricular Structural Remodeling and Cardiomyopathy in Duchenne Muscular Dystrophy Carriers

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Hannah Lehrenbaum ◽  
Michinari Hieda ◽  
Daniel Cheeran ◽  
Yunbeen Bae ◽  
Colby Ayers ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Left Ventricular Systolic Dysfunction ◽  
Stress Test ◽  
Statistical Significance ◽  
Systolic Dysfunction ◽  
Demographic Data ◽  
Significant Proportion ◽  
Left Ventricular ◽  
Structural Remodeling

Introduction: Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disorder. DMD-associated cardiomyopathy is the primary mode of premature death in the majority of male DMD patients, but the prevalence of cardiomyopathy and its clinical significance in female DMD carriers is less well characterized. Hypothesis: We hypothesized that a significant proportion of DMD carriers develop maladaptive left ventricular (LV) structural remodeling and cardiomyopathy over time. Methods: A cross-sectional study was undertaken comparing cardiac magnetic resonance imaging (cMRI) and cardiopulmonary stress test (CPX) parameters between DMD carriers and healthy age- and sex-matched controls from the Dallas Heart Study (DHS). Demographic data, cMRI parameters, and CPX parameters were collected retrospectively on 30 consecutive DMD carriers and 26 control DHS subjects. Results: Overall, DMD carriers had a significantly lower LVEF compared to DHS controls (58+8% vs 70+7%, p< 0.0001). The overall prevalence of reduced LVEF in DMD carriers (defined as LVEF <60%) was 63% compared to 8% in DHS controls. The volumetric variables indexed to body surface area (LVEDVi and LVESVi) were significantly higher in DMD carriers compared to control subjects (72+14 ml/m 2 vs 58+7, p< 0.0001; 31+10 ml/m 2 vs 17+5, p< 0.0001; respectively). LV concentricity was also significantly lower among all DMD carriers compared to DHS controls (3.10+0.65 g/mL 0.67 vs 3.73+0.79, p =0.002). LV concentricity was significantly lower in DMD carriers with reduced EF compared to controls (3.09+0.51 g/mL 0.67 vs 3.73+0.79, p = 0.012), while DMD carriers with preserved EF also had reduced concentricity compared to controls (3.12+0.86 vs 3.73+0.79, p = 0.054). Finally, peak VO 2 was lower in DMD carriers compared to DHS controls (23+6 ml/kg/min vs 25+4, p =0.076), though this difference did not reach statistical significance. Conclusions: Collectively, the data suggest that middle-aged female DMD carriers are at greater risk of developing left ventricular systolic dysfunction and cardiomyopathy associated with decreased exercise capacity. A possible mechanism driving the development of this cardiomyopathy is progressive, maladaptive left ventricular dilatation and cardiac atrophy.

scholarly journals Global longitudinal strain detects subtle left ventricular systolic dysfunction in Duchenne muscular dystrophy patients and carriers

2021 ◽  
Vol 73 (1) ◽  
Author(s):  
Mahmoud Shehta ◽  
Mona Mostafa Rayan ◽  
Nagia Aly Fahmy ◽  
Ahmed Onsy ◽  
Islam Bastawy
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Ejection Fraction ◽  
Longitudinal Strain ◽  
Left Ventricular Systolic Dysfunction ◽  
Systolic Dysfunction ◽  
Global Longitudinal Strain ◽  
Left Ventricular ◽  
Control Group ◽  
Ventricular Systolic Dysfunction

Abstract Background With the continuous improvement of the respiratory care of Duchenne muscular dystrophy patients, cardiac manifestations (heart failure and arrhythmias) become the leading causes of morbidity and mortality. Early identification of cardiac muscle affection is crucial to start anti-failure drugs that reverse remodeling and improve prognosis. This study aimed to detect subtle cardiac changes in Duchenne muscular dystrophy patients and carriers using electrocardiography and echocardiography. Results This study included genetically diagnosed Duchenne muscular dystrophy patients (28 males) and carriers (25 females) and compared them to healthy gender-matched control groups. All study participants underwent clinical assessment, 12-lead electrocardiography, and global longitudinal strain augmented echocardiography. In the current study, Duchenne muscular dystrophy patients had higher heart rates, smaller left ventricular internal diameters, left atrial diameter, lower ejection fraction, and worse left ventricular global longitudinal strain in comparison with the control group. The global longitudinal strain inversely correlated with the age of Duchenne muscular dystrophy patients. The number of exon mutations did not affect electrocardiography and echocardiographic findings. Exon mutations 45–47 and 51–54 were significantly associated with an ejection fraction less than 60%. Duchenne muscular dystrophy carriers had smaller left ventricular wall diameters, left ventricular end-diastolic diameter, left atrial diameter, and worse left ventricular global longitudinal strain in comparison with the control group. Conclusions Left ventricular global longitudinal strain could detect subtle left ventricular systolic dysfunction in Duchenne muscular dystrophy patients and carriers before the decline of left ventricular ejection fraction.

Is everything clear about Tako-Tsubo syndrome?

Folia Medica ◽  
2011 ◽  
Vol 53 (2) ◽  
pp. 5-35 ◽  
Author(s):  
Ivo S. Petrov ◽  
Mariya P. Tokmakova ◽  
Daniel N. Marchov ◽  
Kostadin N. Kichukov
Keyword(s):  
Left Ventricle ◽  
Left Ventricular Systolic Dysfunction ◽  
Systolic Dysfunction ◽  
Clinical Manifestations ◽  
Apical Ballooning ◽  
Microvascular Dysfunction ◽  
Good Prognosis ◽  
Acute Onset ◽  
Left Ventricular ◽  
Catecholamine Excess

Abstract Introduction: Tako-tsubo syndrome is a novel cardio-vascular disease affecting predominantly postmenopausal women exposed to unexpected strong emotional or physical stress, in the absence of significant coronary heart disease. It is characterized by acute onset of severe chest pain and/or acute left ventricular failure, ECG-changes, typical left ventricular angiographic findings, good prognosis and positive resolution of the morphological and clinical manifestations. First described in 1990 in Japan by Sato, Tako-tsubo cardiomyopathy is characterized by transient contractile abnormalities of the left ventricle, causing typical left ventricular apical ballooning at end-systole with concomitant compensatory basal hyperkinesia. There are also atypical forms, presenting with left ventricular systolic dysfunction which affects the mid-portions of the left ventricle. The etiology of the disease still remains unclear. Many theories have been put forward about the potential underlying pathophysiological mechanisms that may trigger this syndrome among which are the theory of catecholamine excess, the theory of multivessel coronary vasospasm, the ischemic theory, and the theory of microvascular dysfunction and dynamic left ventricular gradient induced by elevated circulating catecholamine levels. Adequate management of Tako-tsubo syndrome demands immediate preparation for coronary angiography. Once the diagnosis is made, treatment is primarily symptomatic and includes monitoring for complications. Patients with Tako-tsubo syndrome most frequently develop acute LV failure, pulmonary edema, rhythm and conductive disturbances and apical thrombosis. Treatment is symptomatic and includes administration of diuretics, vasodilators and mechanical support of circulation with intra-aortic balloon counterpulsation.

scholarly journals The Causes of HIV-Associated Cardiomyopathy: A Tale of Two Worlds

2016 ◽  
Vol 2016 ◽  
pp. 1-9 ◽  
Author(s):  
Rebecca H. Lumsden ◽  
Gerald S. Bloomfield
Keyword(s):  
Opportunistic Infections ◽  
Treatment Guidelines ◽  
Left Ventricular Systolic Dysfunction ◽  
Systolic Dysfunction ◽  
Acute Infection ◽  
Clinical Manifestations ◽  
Stage Iv ◽  
Left Ventricular ◽  
Nutritional Deficiencies ◽  
Middle Income

Antiretroviral therapy (ART) has transformed the clinical profile of human immunodeficiency virus (HIV) from an acute infection with a high mortality into a treatable, chronic disease. As a result, the clinical sequelae of HIV infection are changing as patients live longer. HIV-associated cardiomyopathy (HIVAC) is a stage IV, HIV-defining illness and remains a significant cause of morbidity and mortality among HIV-infected individuals despite ART. Causes and clinical manifestations of HIVAC depend on the degree of host immunosuppression. Myocarditis from direct HIV toxicity, opportunistic infections, and nutritional deficiencies are implicated in causing HIVAC when HIV viral replication is unchecked, whereas cardiac autoimmunity, chronic inflammation, and ART cardiotoxicity contribute to HIVAC in individuals with suppressed viral loads. The initiation of ART has dramatically changed the clinical manifestation of HIVAC in high income countries from one of severe, left ventricular systolic dysfunction to a pattern of subclinical cardiac dysfunction characterized by abnormal diastolic function and strain. In low and middle income countries, however, HIVAC is the most common HIV-associated cardiovascular disease. Clear diagnostic and treatment guidelines for HIVAC are currently lacking but should be prioritized given the global burden of HIVAC.

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