Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models.

Research advances over the past 30 years have confirmed a critical role for genetics in the etiology of dilated cardiomyopathies (DCMs). However, full knowledge of the genetic architecture of DCM remains incomplete. We identified candidate DCM causal gene, C10orf71, in a large family with 8 patients with DCM by whole-exome sequencing.

Characteristics of Cardiac Abnormalities in Pediatric Patients With Acute COVID-19.

Introduction Coronavirus disease 2019 (COVID-19) is known to cause cardiac abnormalities in adults. Cardiac abnormalities are well-described in multisystem inflammatory syndrome in children, but effects in children with acute COVID-19 are less understood. In this multicenter study, we assessed the cardiac effects of acute COVID-19 among hospitalized children (<21 years) admitted to three large healthcare systems in New York City.

Fetal echocardiographic diagnosis of a triad with common embryological origins: Cervical aortic arch, retro-aortic left innominate vein and coarctation of the aorta.

Cervical aortic arch (CAA) and retro-aortic innominate vein (RAIV) are rare entities which can be associated with one another in a structurally normal heart. Less well recognized is the fact, that a third entity may often be present as well, since aortic arch abnormalities are common in a CAA. Hence, these three entities (CAA, RAIV, and an arch anomaly - in this case a post-ductal coarctation) may present as a triad.

Association of A Dilated Coronary Sinus in the Fetus with Actual and Apparent Coarctation of the Aorta and Diminutive Left Heart Structures.

Evidence suggests an association between left heart obstructive lesions and dilated coronary sinus (DCS), but this has not been studied in fetuses. A retrospective review of fetal echocardiograms (FE) over an 8-year period was conducted, and patients with DCS were identified and confirmed postnatally. There were 5840 FE performed on 4920 women during this period.

Relationship of ambulatory blood pressure and body mass index to left ventricular mass index in pediatric patients with casual hypertension.

Both obesity and hypertension are associated with left ventricular hypertrophy (LVH) in children. Our objective was to compare the prevalence of LVH in obese and nonobese subjects with casual hypertension who underwent ambulatory blood pressure monitoring (ABPM). Untreated children (aged 6-20 years) underwent 24-hour ABPM, and left ventricular mass index (LVMI) was measured.

Dysmorphic features, cognitive disability, chronic inflammation, and predisposition to vascular disease in two sisters: a new autosomal recessive disorder?

A 20-year-old woman presented with mental retardation and a history of stroke related to moyamoya disease at the age of 8 years. She had cognitive impairment which became more pronounced after the stroke. This patient's parents were first cousins and six close family relatives had strokes in their 60s or 70s.

Unmasking of neonatal renovascular hypertension by milrinone used for cardiac dysfunction.

A neonate initially presented with heart failure, with severe cardiac dysfunction confirmed by echocardiography, at 3 days of age. Blood pressure at presentation was in the high normal range. It was not until there was a rapid improvement of left-ventricular function on intravenous milrinone that the infant was noted to be hypertensive on day of life 7.

Improvement of left ventricular mass with antihypertensive therapy in children with hypertension.

There is paucity of data on the regression of left ventricular hypertrophy (LVH) in hypertensive children. This study assessed the effects of antihypertensive therapy on left ventricular mass in children with and without LVH. Medical records of hypertensive patients who had a baseline and follow-up echocardiogram (echo 1, echo 2) were reviewed.

Relation of coarctation of the aorta to the occurrence of ascending aortic dilation in children and young adults with bicuspid aortic valves.

Children with bicuspid aortic valve (BAV) have aortic dilation that is present and progressive from birth irrespective of the functional state of the valve. There are no published data comparing aortic dilation in children with BAV with and without aortic coarctation (CoA). The objectives of this study were to (1) compare differences in aortic dimensions and rates of dilation between children with isolated BAV with those of children with BAV and CoA and (2) identify risk factors for the development of aortic dilation.

Electrocardiographic predictors of left ventricular hypertrophy in pediatric hypertension.

Objective: To determine the efficacy of electrocardiography (ECG) in detecting left ventricular hypertrophy (LVH) in pediatric hypertension (HT).

Study Design: Concomitant echocardiograms and electrocardiograms in 108 children with HT were reviewed. Left ventricular mass (LVM), assessed by echocardiography, was used as a basis for a diagnosis of LVH (echo LVH) using accepted pediatric criteria.

Frequency of aberrant subclavian artery, arch laterality, and associated intracardiac anomalies detected by echocardiography.

Tetralogy of Fallot is generally considered to be the most common congenital heart defect associated with an aberrant subclavian artery (ASA), but the prevalence of ASA in patients with other cardiac anomalies is not well described. The pediatric echocardiography database, with 15,871 initial echocardiograms, was searched for all patients with ASA. Arch laterality and associated intracardiac anomalies were documented for each patient.

Left atrial appendage: variations in morphology and position causing pitfalls in pediatric echocardiographic diagnosis.

The left atrial appendage is a complex structure that exhibits great variability in structure and form. Hence, it may masquerade as several other cardiac structures by echocardiography and cause errors in diagnosis. This report critically reviews the pitfalls that result in misinterpretation of normal and abnormal anatomy in a pediatric echocardiogram, and discusses and illustrates potential misdiagnoses and methods to avoid them.

Acute myopericarditis after multiple vaccinations in an adolescent: case report and review of the literature.

We report a case of postvaccination acute myopericarditis in an adolescent. The patient presented with acute chest pain, diffuse ST-segment elevation, and elevated cardiac enzyme levels. Cardiac MRI was consistent with acute myocarditis.

Neonatal Marfan syndrome : in utero presentation with aortic and pulmonary artery dilatation and successful repair of an acute flail mitral valve leaflet in infancy.

Neonatal Marfan syndrome (nMFS) is the rare and severe form of this connective tissue disorder with poor outcome due to progressive valvular insufficiency. We describe a case of nMFS suspected in utero, by fetal echocardiography, due to marked dilatation of both great arteries, which is the first description of fetal pulmonary artery dilatation in this disorder. The patient developed a flail mitral valve leaflet during the first year of life that was successfully repaired with an excellent medium-term result.

Ascending aortic aneurysm in a fetus due to a benign nodular myofibroblastic lesion.

A fetal echocardiogram at 20 weeks of gestation revealed a large ascending aortic aneurysm in the presence of a normal aortic root and normal intracardiac anatomy. No other abnormalities were noted in the fetus. Upon termination of pregnancy, histopathological examination revealed an isolated benign nodular myofibroblastic lesion of likely hamartomatous origin, a first description of such pathology contributing to the formation of an aneurysm in the ascending aorta.

Regression of left ventricular hypertrophy in children with antihypertensive therapy.

Left ventricular hypertrophy (LVH) is a complication of hypertension that has received great attention in the adult population. Large-scale randomized control studies in adults have demonstrated that LVH regresses in response to pharmacologic intervention. While it is known that LVH occurs as a complication of hypertension in the pediatric population, few studies have focused on its regression with pharmacological intervention.