[Cardiovascular disorders in patients infected with 2019 novel coronavirus]. / Atteintes du système cardiovasculaire chez les patients atteints de maladie à coronavirus 19.

The coronavirus disease 2019 (COVID-19) outbreak has become a worldwide public health concern. Cardiovascular complications are relatively frequent, reaching 20% of COVID-19 patients and 43% of COVID-19 patients admitted in Intensive Care Unit. Cardiac injury mechanisms are multiple, including hyperinflammation, pro-coagulant and pro-thrombotic states, sepsis related cardiomyopathy, hypoxia in relation with lung severity, hemodynamic instability, cytokine storm, critically illness, direct myocardial insult by acute respiratory syndrome coronavirus 2 (SARS-CoV-2), and stress cardiomyopathy. The authors report a narrative review about cardio-vascular complications and predictive factors of mortality in patients infected with COVID-19.

Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies.

BACKGROUND AND PURPOSE: To describe a large series of patients with α, ß, and γ sarcoglycanopathies (LGMD-R3, R4, and R5) and study phenotypic correlations and disease progression. METHODS: A multicentric retrospective study in four centers in the Paris area collecting neuromuscular, respiratory, cardiac, histologic, and genetic data. The primary outcome of progression was age of loss of ambulation (LoA); disease severity was established according to LoA before or after 18 years of age. Time-to-event analysis was performed. RESULTS: One hundred patients (54 γ-SG; 41 α-SG; 5 ß-SG) from 80 families were included. The γ-SG patients had earlier disease onset than α-SG patients (5.5 vs. 8 years; p = 0.022) and ß-SG patients (24.4 years). Axial muscle weakness and joint contractures were frequent and exercise intolerance was observed. At mean follow-up of 22.9 years, 65.3% of patients were wheelchair-bound (66.7% α-SG, 67.3% γ-SG, 40% ß-SG). Dilated cardiomyopathy occurred in all sarcoglycanopathy subtypes, especially in γ-SG patients (p = 0.01). Thirty patients were ventilated and six died. Absent sarcoglycan protein expression on muscle biopsy and younger age at onset were associated with earlier time to LoA (p = 0.021 and p = 0.002). Age at onset was an independent predictor of both severity and time to LoA (p = 0.0004 and p = 0.009). The α-SG patients showed genetic heterogeneity, whereas >90% of γ-SG patients carried the homozygous c.525delT frameshift variant. Five new mutations were identified. CONCLUSIONS: This large multicentric series delineates the clinical spectrum of patients with sarcoglycanopathies. Age at disease onset is an independent predictor of severity of disease and LoA, and should be taken into account in future clinical trials.

Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.

BACKGROUND AND PURPOSE: Our aim was to determine the prognostic value of urine and blood heteroplasmy in patients with the m.3243A>G mutation. METHODS: Adults with the m.3243A>G mutation referred to our institution between January 2000 and May 2014 were retrospectively included. The relationship between their baseline clinical characteristics, their mutation load in urine and blood, and major adverse events (MAEs) during follow-up, defined as medical complications requiring a hospitalization or complicated by death, was studied. RESULTS: Of the 43 patients (age 45.6 ± 13.3 years) included in the study, 36 patients were symptomatic, including nine with evidence of focal brain involvement, and seven were asymptomatic. Over a 5.5 ± 4.0 year mean follow-up duration, 14 patients (33%) developed MAEs. Patients with MAEs had a higher mutation load than others in urine (60.1% ± 13.8% vs. 40.6% ± 26.2%, P = 0.01) and in blood (26.9% ± 18.4% vs. 16.0% ± 12.1%, P = 0.03). Optimal cutoff values for the prediction of MAEs were 45% for urine and 35% for blood. In multivariate analysis, mutation load in urine ≥45% [odds ratio 25.3; 95% confidence interval (CI) 1.1-567.8; P = 0.04], left ventricular hypertrophy (odds ratio 16.7; 95% CI 1.3- 222.5; P = 0.03) and seizures (odds ratio 48.3; 95% CI 2.5-933; P = 0.01) were associated with MAEs. CONCLUSIONS: Patients with the m.3243A>G mutation are at high risk of MAEs, which can be independently predicted by mutation load in urine ≥45%, a personal history of seizures, and left ventricular hypertrophy.

Be careful about abdominal discomfort in adult patients with muscular dystrophy.

Muscular dystrophies are genetic muscular disease with disability. Heart failure is a classical complication mainly in Duchenne muscular dystrophy (DMD). We report 2 cases of severe acute heart failure revealed by abdominal discomfort in a patient with DMD and in a patient with gamma-sarcoglycanopathy.

[Heart involvement in sarcoglycanopathies]. / Cœur et sarcoglycanopathies.

Sarcoglycanopathies (SG) are autosomic recessive muscular dystrophies, secondary to mutations of the sarcoglycan complex. Clinical pictures include muscle weakness affecting mainly the proximal limb girdle musculature. We review heart involvement in this group of disease.

[Myocardial function analysis with echocardiography-Doppler in septic shock]. / Analyse de la fonction myocardique par échocardiographie-Doppler dans le choc septique.

Septic shock is a severe sepsis associated with cardio-circulatory failure and tissular hypoperfusion. Echocardiography-Doppler remains essential for the assessment of myocardial function in septic shock. This ultrasound procedure helps clinicians for the analysis of left ventricular systolic function, left ventricular diastolic function, right ventricular function and cardiac filling.

Torsade de pointes induced by citalopram and amiodarone.

Long QT syndrome (LQTS) is a disorder of myocardial repolarization characterized by a prolonged QT interval on the electrocardiogram (ECG). This disorder is associated with an increased risk of torsade de pointes (TdP). We report a case of TdP induced by citalopram, a selective serotonin reuptake inhibitor (SSRI), taken in conjunction with amiodarone.

[Heart and Steinert's disease]. / Cœur et myotonie de Steinert.

Myotonic dystrophy type 1 (Steinert disease) is an autosomal dominant disease characterized by myotonia and multiorgan damage. This latter is the most frequent of the adult-onset muscular dystrophies. Heart involvement is often associated, including cardiomyopathies, atrioventricular block, atrial and ventricular arrhythmias.

Angiotensin-converting enzyme inhibitors and beta-blockers in cardiac asymptomatic patients with Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is an X-linkedrecessive disorder caused by the absence of dystrophin. Cardiac dysfunction is a classical complication in this disease. Most DMD patients remain asymptomatic for years in spite of the progression of cardiac dysfunction because of their limited daily activities. Angiotensin-converting enzyme inhibitors and beta-blockers may delay the onset and the progression of cardiac dysfunction and have to be recommended earlier in this disease.

Which application for systolic wall stress and circumferential fiber velocity shortening in echocardiography in the tissue Doppler imaging era?

We discuss in the paper the usefulness of old echocardiographic parameters including systolic wall stress and fiber velocity shortening in the tissue Doppler imaging era.

Usefulness of myocardial strain imaging in Duchenne muscular dystrophy.

Duchenne muscular dystrophy is an X-linked recessive disorder caused by the absence of dystrophin. Heart involvement is a classical complication in this disease and leads progressively to heart failure. Detecting latent myocardial involvement is essential in this disease because early use of drugs like angiotensin-converting enzyme inhibitors may delay the progression of heart disease. Myocardial strain imaging is an application of the tissue Doppler imaging. By assessing regional myocardial function, this tool might help clinicians to detect latent myocardial involvement in DMD patients.

Sudden death in Steinert's disease.

Steinert's disease is an autosomal dominant neuromuscular disorder. Heart involvement is characterized by conduction system abnormalities, supraventricular and ventricular arrhythmias. Patients with Steinert's disease are reported to have a higher incidence of sudden death. Preventing sudden death is crucial in this disease. It relies on non-invasive and/or invasive approach for risk stratification.

Complete atrioventricular block in Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. It is characterized by progressive muscle wasting and weakness of variable distribution and severity. Heart is involved leading to heart failure. Conduction abnormalities are unusual. We report a case of complete atrio-ventricular block in a DMD patient.

[Echocardiography in mouse]. / Echocardiographie de la souris.

Assessing cardiac phenotype requires invasive or noninvasive techniques in mouse. Echocardiography is a noninvasive technique for evaluating cardiac function. The purpose of this paper is to underline echocardiography modalities and new tools Doppler applications like tissue Doppler imaging.

Cardiomyopathy in Pompe's disease.

Pompe's disease (glycogen storage disease type II) is a lysosomal storage disorder resulting from a deficiency in alpha 1, 4 glucosidase. Prognosis is poor because of heart involvement. Treatment in adult form relies on supportive therapy. Enzyme replacement therapy with recombinant human alpha glucosidase remains a hope for patients.

Hypertrophic cardiomyopathy in Friedreich's ataxia.

Friedreich's ataxia is an autosomal recessive disorder characterized by spinocerebellar degeneration. It is caused by a mutation that consists of an unstable expansion of GAA repeats in the first intron of the gene encoding frataxin on chromosome 9 (9q13). We reported a case of hypertrophic cardiomyopathy associated with Friedreich's ataxia in a twenty year old patient.