Majdalany, David S

Coarctation of the aorta (CoA) comprises 5–7% of congenital heart disease and can present as an isolated narrowing in the aortic arch just distal to the left subclavian artery or can be associated with cardiac abnormalities such as a bicuspid aortic valve, aortopathy, or ventricular septal defects. With the advances in the medical field, intervention on CoA can either be via surgical repair or endovascular stenting. Echocardiography is the mainstay in diagnosing CoA, with tomographic imaging such as magnetic resonance imaging (MRI) or computed tomography providing supplementary assessment of the aorta, valves, and collateral vessels. We present a case of a young hypertensive male who was noted to have a continuous cardiac murmur with diagnostic Doppler pattern of CoA on echocardiography that normalized soon after percutaneous stenting.

Abstract Background Bicuspid aortic valve (BAv) is associated with increased oxidative stress and inflammation, resulting in valve fibrosis, calcification, and ultimately early degenerative valve disease, often necessitating premature aortic valve intervention. In recent years, growing evidence has been published supporting the role of lipoprotein(a) [Lp(a)], an important carrier of oxidized phospholipids, in the development of aortic valve disease in the general population. However, the specific influence of Lp(a) levels in patients with BAv remains to be firmly established. Purpose To assess the role of Lp(a) levels in the development of aortic valve disease and the necessity for aortic valve interventions among individuals with BAv. Methods This retrospective multicenter study encompassed consecutive patients diagnosed with BAv from January 1997 to December 2022, all of whom had undergone serum Lp(a) measurement. This study evaluated the association between Lp(a) concentrations and the occurrence of aortic valve interventions. A cutoff point of ≥30 mg/dl for high Lp(a) levels was established. Binary logistic regression was utilized to calculate the odds ratio (OR) for an aortic intervention according to high versus low Lp(a) levels. Additionally, Kaplan Meier curves were employed to estimate the cumulative requirement for an aortic valve replacement based on Lp(a) concentrations. Results A total of 452 patients with BAv and a Lp(a) measurement were included in the study, with a mean age of 37.2 ±10.5 years at the time of BAv diagnosis, with 71.2% being male. Among these, 101 (22.3%) patients underwent an aortic valve replacement. In 72 cases (71.3%) aortic stenosis was the primary indication for intervention, while aortic regurgitation accounted for 29 cases (28.7%). The presence of elevated Lp(a) levels (≥30 mg/dl) demonstrated a significant association with the requirement for an aortic valve intervention (OR 2.2, 95%CI 1.4-3.6, p<0.001) in both the regression analysis and using the Kaplan-Meier estimator (Figure). High Lp(a) concentrations posed a risk factor for aortic valve replacements regardless of whether the primary indication for intervention was significant stenosis (OR 1.8, 95%CI 1.1-3.1, p=0.028) or regurgitation (OR 2.5, 95%CI 1.2-5.4, p=0.018). Conclusion Increased concentrations of Lp(a) may influence the clinical trajectory of patients with a BAv and may be a significant risk factor for aortic valve replacement, irrespective of the primary indication for intervention. Further investigations will be critical in unveiling the precise pathological mechanisms of Lp(a) in BAv. Confirming whether reducing Lp(a) levels could slow the progression of aortic disease in this demographic requires further exploration. Kaplan-Meier estimator.

Congenital heart disease in adult patients (ACHD) includes individuals with native anatomic deformities and those who have benefited from corrective, ameliorative, or interventional heart and vascular interventions. Congenital heart disease is the most common birth defect, although with interventions most survive into adulthood. Newborns and children with complex congenital heart diseases that feature cyanosis fail to thrive, and once this is identified, heart failure can promptly undergo diagnostic evaluations and treatment. However, patients with simple congenital heart disease and subtle clinical signs and symptoms may escape diagnosis until adulthood or experience changes in their cardiac hemodynamics and physiology in settings such as pregnancy or newly diagnosed arrhythmias. The chest X-ray (CXR) is the most common X-ray among all radiological procedures. Individual features or a constellation of features on a CXR are often present in patients who have congenital heart disease. The ability to recognize these CXR features is a valuable skill for making the diagnosis of ACHD and for following these patients as they age, and can complement echocardiographic findings. When used well to diagnose ACHD, the CXR will be the sharpest arrow in the quiver.

The electrocardiogram is the first test that is undertaken when evaluating a patient’s heart. Diagnosing congenital heart disease in an adult (ACHD) can be facilitated by knowing the classical electrocardiographic (EKG) findings. These EKG findings often result from the congenital defect that prevents a part of the cardiac conduction system from occupying its normal anatomic position. When these classical EKG findings are not present, the clinician should consider alternate diagnoses. As the patient with congenital heart disease ages, with native anatomy or after surgical or device repair, the EKG can be used to assess the patient’s status and to decide if and when treatment requires adjustment. This is because the electrocardiogram (EKG) can diagnose the hypertrophy or enlargement in a cardiac chamber that results from the congenital defect or anomaly and can diagnose an arrhythmia that might compromise an otherwise stable anatomy. While ACHD often involves intracardiac shunting, in many cases the abnormality only involves cardiac electrical conduction block or ventricular repolarization. These life-threatening diseases can be diagnosed with an EKG. This review will demonstrate and explain how the EKG can be used to diagnose and follow adults with congenital heart disease. When coupled with history and physical examination, the value of the EKG in ACHD will be apparent. A diagnosis can then be made or a differential diagnosis proposed, before an imaging study is ordered.

While congenital heart disease historically was a pathology primarily restricted to specialized pediatric centers, advances in technology have dramatically increased the number of people living into adulthood, the number of complications faced by these patients, and the number of patients visiting non-specialized emergency departments for these concerns. Clinicians need to be aware of the issues specific to patients’ individual congenital defects but also have an understanding of how typical cardiac pathology may manifest in this special group of patients. This manuscript attempts to provide an overview of this diverse but increasingly common group of adult patients with congenital heart diseases, including a review of their anatomical variants, the complications they face at the highest rates, and ways that emergency physicians may need to manage these patients differently to avoid causing harm.

Current management of patients with congenital heart disease has increased their survival into adulthood. This is accompanied by potential cardiac complications, including pulmonary hypertension associated with congenital heart disease (PAH-CHD). PAH-CHD constitutes a challenging subgroup of pulmonary hypertension and requires expert management to improve quality of life and prognosis. Novel agents have shown a significant improvement in morbidity and mortality in patients with pulmonary arterial hypertension. However, the long-term effects of these medications on PAH-CHD patients remain somewhat uncertain, necessitating treatment plans largely founded on the clinical experience of the healthcare providers. The aim of this review is to summarize the current evidence and future perspectives regarding treatment strategies for PAH-CHD to help better guide management of this complex disease.