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…
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. 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 &…
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…
Name of enzyme Major cardiac phenotypes Related mechanisms References HDAC1 & 2 Double KO: Dilated cardiomyopathy, arrhythmias, and premature death HDAC1 and 2 are functionally redundant. Double KO dysregulates the…
Fig. 40.1 Pathologic specimen of a bicuspid stenotic calcified aortic valve 40.1.2 Clinical Presentation The clinical presentation of aortic valve stenosis depends upon the severity of the obstruction. The measure…
Fig. 36.1 Transgenic mouse model displaying transposition of the great arteries (TGA). 3D reconstructions from magnetic resonance imaging (MRI) data sets [1] (a, b) and hematoxilin and eosin-stained (H&E) sections…
Gene Protein function Phenotype Status References Transcription factors and cofactors BCOR Transcriptional corepressor OFCD syndrome (with DORV) 2 or more independent reports [60, 61] FOXC1 Forkhead TF TOF 2 or…
