Clinical Presentation and Therapy of Cardiomyopathies.

Cardiomyopathies are a group of diseases that primarily affect the heart muscle, leading to mechanical or electrical dysfunction of the heart. They can be categorized into primary and secondary forms. Primary cardiomyopathies can be further classified as congenital, acquired, or mixed.

Clinical Presentation and Therapy of Truncus Arteriosus.

Truncus arteriosus (TA, also known as common arterial trunk) consists of only one great artery ("the truncus") with a semilunar valve (truncus valve) arising from the heart and an additional ventricular septal defect and (Fig. 50.1).

Clinical Presentation and Therapy of Coronary Artery Anomalies.

There are two major coronary arteries that arise normally directly above the aortic valve in the sinus. The left main coronary artery (LCA or LMCA) arises from the left coronary sinus and divides shortly after its origin into the left anterior descending and the circumflex coronary arteries (LCX). Branches of the left anterior descending (LAD) coronary artery include the left conus, septal, and diagonal arteries.

Clinical Presentation and Therapy of Semilunar Valve and Aortic Arch Anomalies.

The following semilunar valve defects and aortic arch anomalies are called simple defects because there is a single problem that can be well described. Based on the degree of malformation and hemodynamic consequence, these simple lesions can however be life threatening immediately after birth. They all affect either the left or right outflow tract or the aortic arch.

Clinical Presentation and Therapy of Anomalies of the Situs.

Situs abnormalities may occur in many and most often more complex congenital cardiac malformations. These conditions are collectively referred to as heterotaxy syndromes, derived from the Greek words "heteros" meaning different and "taxos" meaning orientation or arrangement. Clinically, heterotaxy spectrum encompasses defects in the left-right laterality and arrangement of visceral organs.

Clinical Presentation and Therapy of d-Transposition of the Great Arteries.

d-Transposition of the great arteries (d-TGA) is the most common form of congenital heart disease that presents with cyanosis in a newborn. The aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. It constitutes 3-5% of all congenital heart defects.

Clinical Presentation and Therapy of Total Anomalous Pulmonary Venous Return.

Total anomalous pulmonary venous return (TAPVR) is rare (accounting for about 1% of all CHD) and can occur as a single lesion or in combination with other types of CHD (such as heterotaxy or HLHS). TAPVR is defined as an abnormal connection where all pulmonary veins do not drain into the left atrium but into the right atrium either directly or through a vein that is connected to the right atrium. TAPVR can be divided into four anatomic groups (Fig.

Clinical Presentation and Therapy of Atrioventricular Septal Defect.

Atrioventricular septal defects (AVSDs) consist of a number of cardiac malformations that result from abnormal development of the endocardial cushions. AVSDs occur in 0.19 of 1000 live births and constitute 4-5 % of congenital heart defects.

Clinical Presentation and Therapy of Atrial Septal Defect.

Atrial septal defects (ASDs) occur in 1 of 1500 live births and constitute 6-10% of congenital heart defects. There is a female-to-male predominance of 2 to 1. According to their embryological origins, we can differentiate five different types of ASDs (see Fig.

Technologies to Study Genetics and Molecular Pathways.

Over the last few decades, the study of congenital heart disease (CHD) has benefited from various model systems and the development of molecular biological techniques enabling the analysis of single gene as well as global effects. In this chapter, we first describe different models including CHD patients and their families, animal models ranging from invertebrates to mammals, and various cell culture systems. Moreover, techniques to experimentally manipulate these models are discussed.

Cardiac Transcription Factors and Regulatory Networks.

Cardiac development is a fine-tuned process governed by complex transcriptional networks, in which transcription factors (TFs) interact with other regulatory layers. In this chapter, we introduce the core cardiac TFs including Gata, Hand, Nkx2, Mef2, Srf, and Tbx. These factors regulate each other's expression and can also act in a combinatorial manner on their downstream targets.

Normal Cardiac Anatomy and Clinical Evaluation.

The heart is positioned in the middle, superior, and posterior regions of the mediastinum. Although it is a midline structure, the apex of the heart is typically situated to the left of the midline (Fig. 4.