Fig. 24.1 The embryonic heart just after cardiac looping. The common atrium (CA) communicates with the left ventricle (LV) only, via the atrioventricular canal (AVC). The primary ring (PR) marks…
Fig. 51.1 The Notch receptor is present in endocardial cells prior to EMT and will bind to its ligand and release its NCID domain. This domain forms a nuclear complex…
Class Genes Transcription factor Cited2, Eya1, Foxc1, Foxc2, Gata3, Gata6, Gbx2, Hand2, Pbx1, Prdm1, Prdm3, Prrx1;Prrx2, Tbx1, Tcfap2a, Zic3 Signalling molecule Notch, Rara; Rarb, Scrib, Sema3c Growth factor Fgf8, Tgfb2,…
Fig. 43.1 Normal left coronary artery system Fig. 43.2 Normal right coronary artery system 43.2 Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery A patient with anomalous…
Phenotype Gene Associated syndrome Extracardiac features Causative gene Calcific aortic stenosis NOTCH1 no no no Supravalvar aortic stenosis ELN Williams–Beuren Elfin facies, mental deficiency, overfriendly personality, short stature, renal artery…
Fig. 58.1 Pathologic specimen of hypertrophic cardiomyopathy. Note the markedly thickened septum and left ventricular posterior wall (Reproduced or adapted from Driscoll, David, Fundamentals of Pediatric Cardiology, Lippincott Williams &…
Disorder/gene Frequency in phenotype (%)/phenotype HCM Frequency in phenotype (%) MYBPC3 30–40 % MYH7 30–50 % TNNT2, TNNI3, MYL2, MYL3, ACTC1 <5 % TTNa, TPM1, TNNC1, MYOZ2, CSRP3, ACTN2, LDB3,…
Fig. 21.1 Details of atrial septation and venous return in the developing mouse heart are shown in a series of episcopic images. (a, b) Images of an E10.5 heart are…
Class Genes Transcription factor Cited2, Foxp1, Gata3, Gata4; Gat6, Gata6, Jun, Msx1; Msx2, Pax3, Pbx1, Prdm1, Prdm3, Sox4, Tbx1, Tcfap2a Signalling molecule Rara; Rarb, Rara; Rarc, Rxra, Sema3c, Shh Growth…
Fig. 18.1 Workflow of Sanger sequencing and two next-generation sequencing platforms. (a) Sanger sequencing. (b) Genome Sequencer FLX from Roche/454. (c) Genome Analyzer from Illumina. dNTP deoxynucleotide, ddNTP dideoxynucleotides, NGS…
