Risk prediction models for heart failure admissions in adults with congenital heart disease.

Background: Heart failure (HF) is the leading cause of death in adult patients with congenital heart disease (ACHD). No risk prediction model exists for HF hospitalization (HFH) for ACHD patients. We aimed to develop a clinically relevant one-year risk prediction system to identify ACHD patients at high risk for HFH.

Cardiovascular outcomes of pregnancy in Turner syndrome.

Objectives: Women with Turner syndrome (TS) are frequently counselled against pregnancy due to lack of data and unclear aortic dissection risk. However, with advances in fertility therapy, more women with TS are contemplating pregnancy. This study compared rates of adverse cardiovascular (CV) outcomes among: (1) pregnant and non-pregnant women with TS and (2) pregnant women with TS with/without structural heart disease.

Non-Vitamin K Antagonist Oral Anticoagulants in Adult Congenital Heart Disease.

Non-vitamin K antagonist (VKA) oral anticoagulants (NOACs) have several advantages over VKAs that render them an attractive option for adults with congenital heart disease (CHD). Efficacy and safety data specific to the adult CHD population are emerging. Herein, we synthesize the growing literature regarding NOACs in adults with CHD and attempt to identify subgroups for which it appears reasonable to extrapolate data from populations without CHD.

Consensus recommendations for echocardiography in adults with congenital heart defects from the International Society of Adult Congenital Heart Disease (ISACHD).

The population of adults with congenital heart disease (ACHD) is increasing constantly due to medical, surgical and interventional successes and the input from advanced cardiovascular imaging. ACHD patients are at continuing risk of residua and sequelae related to their CHD contributing to significant morbidity and mortality. Consequently, lifelong expert surveillance is recommended for most patients.

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.

Purpose: Thoracic aortic aneurysm and dissection (TAAD) is typically inherited in an autosomal dominant manner, but rare X-linked families have been described. So far, the only known X-linked gene is FLNA, which is associated with the periventricular nodular heterotopia type of Ehlers-Danlos syndrome. However, mutations in this gene explain only a small number of X-linked TAAD families.

Cardiogenic shock in Takotsubo cardiomyopathy: a focus on management.

Takotsubo cardiomyopathy has become a well recognized mimicker of acute coronary syndrome. Patients generally do well, although a minority can develop life-threatening complications. We present a case of 1 such patient in a branched self-assessment format designed to challenge the reader's clinical management skills.

Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm.

Mutations of the ACTA2 gene, which encodes the smooth muscle cell-specific isoform of α-actin protein, have recently been found to be among the most common genetic abnormalities observed in patients with familial thoracic aortic aneurysms/dissection (TAAD). Other reported vascular manifestations caused by these mutations include premature coronary artery disease and stroke. We report a young adult who presented with an acute brachial artery occlusion and was subsequently found to have aortopathy and an ACTA2 mutation.

Structure and process measures of quality of care in adult congenital heart disease patients: a pan-Canadian study.

Background: There are more adults than children with congenital heart disease. Of over 96,000 ACHD patients in Canada, approximately 50% require ongoing expert care. In spite of published recommendations, data on the quality of care for ACHD patients are lacking.

Mobile ventricular thrombus arising from the mitral annulus in patients with dense mitral annular calcification.

Mitral annular calcification (MAC) has been considered a risk factor for thrombo-embolic disease. Superimposed thrombus formation on MAC has not been well described as a possible underlying mechanism for this association. We report three patients with mobile left ventricular (LV) thrombus arising from the LV aspect of severe calcified mitral annulus in the setting of normal LV function, mitral valve function, and sinus rhythm.

Tricuspid annular systolic velocity predicts maximal oxygen consumption during exercise in adult patients with repaired tetralogy of Fallot.

Background: Many patients with repaired tetralogy of Fallot (TOF) have clinically important pulmonary regurgitation that can eventually lead to right ventricular (RV) dilatation and dysfunction and associated morbidity and mortality. Unfortunately, standard echocardiographic techniques to evaluate RV size and function can be inaccurate. Newer Doppler modalities such as Doppler tissue imaging (DTI) can detect subtle changes in myocardial velocities and may better identify subclinical RV dysfunction in these patients.

Acute reversible left ventricular dysfunction secondary to alcohol.

Chronic excess alcohol use is a well-established cause of dilated cardiomyopathy. The clinical features are variable because patients may be asymptomatic despite there being evidence of severe left ventricular dysfunction. Although the mechanism of alcohol-induced cardiomyopathy is not clearly understood, abstinence from alcohol has been associated with improvement in left ventricular function.

Pulmonary hypertension and patent ductus arteriosus in an 82-year-old female patient.

An 82-year-old female patient with a history of deep vein thrombosis presented with progressive dyspnea. Echocardiogram demonstrated significant pulmonary hypertension and patent ductus arteriosus (PDA). There was considerable debate regarding the role of PDA in the patient's pulmonary hypertension.

Ruptured mycotic pseudoaneurysm of the thoracic aorta.

A 68-year-old man being treated for a Staphylococcus aureus bacteremia developed hemoptysis. A transesophageal echocardiogram (TEE) and computed tomographic (CT) scan showed a large descending thoracic aorta pseudoaneurysm. The patient died before surgical intervention could be performed.

Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies.

Objectives: This study was designed to determine the prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies and to assess the clinician's ability to predict the presence or absence of 22q11.2 microdeletion on the basis of clinical features.

Comparison of real-time 3-dimensional echocardiography with conventional 2-dimensional echocardiography in the assessment of structural heart disease.

We evaluated the diagnostic use of a real-time 3-dimensional (3D) echocardiographic system in 106 patients referred for echocardiography during a 4-month period. Real-time 3D echocardiography was performed and recorded in parallel with a routine, comprehensive 2-dimensional (2D) study. The diagnoses were exclusively on the basis of 2D findings.

Severe aortic insufficiency secondary to an aortic bioprosthesis tear.

A patient with a 10-year-old Medtronic Hancock II porcine aortic bioprosthesis developed severe aortic insufficiency. A transesophageal echocardiogram showed a long and mobile mass attached to the bioprosthesis which was consistent with a torn cusp. The patient underwent replacement of the prosthesis with a mechanical valve.

Temporal variations in effective orifice area during ejection in patients with valvular aortic stenosis.

Effective orifice area (EOA) is the standard index for assessing aortic stenosis (AS) severity. However, EOA varies during ejection and a single measurement at 1 ejection time point may not fully describe the hemodynamic severity of a stenotic aortic valve. We investigated whether the dynamic change in EOA during ejection differs between patients with severe AS (EOA View Article and Find Full Text PDF