PMC8764405_01
PMC8764405_02
Transthoracic echocardiography. (A) Apical four-chamber view showing biventricular hypertrophied heart with multiple mid and apical-muscular VSD (white arrows); markedly dilated atria, especially the right atrium. (B) Subcostal short-axis view in end-systole revealing non-compaction cardiomyopathy involving both ventricles. Non-compaction area is depicted by blue arrow, whereas compaction area is depicted by red arrow. (C) Left panel: 2D echocardiography demonstrating RV non-compaction with multiple and prominent trabeculation with deep recesses; right panel: a color Doppler echocardiography demonstrated direct communication between RV cavity into deep intertrabecular recesses.
fped-09-801491-g0001.jpg
PMC8764405_02_fped-09-801491-g0001.jpg
F1
Echocardiogram confirmed non-compaction cardiomyopathy (NC:C ratio > 2) involving both RV and LV, severe LV systolic dysfunction with LVEF of 26-28%, impaired RV systolic function with TAPSE of 5 mm, bilateral enlargement, and multiple muscular VSD located at the mid and apical regions of the ventricular septum (Figure 1).
PMC8764405_03
PMC8764405_04
PMC8764405_05
PKP2 variant, c.1511-1G>C. (A) Genomic DNA sequence. Noted nucleotide G/G in normal control, G/C in heterozygous father, and C/C in the patient. (B) Diagram showing the location of the variant at intron 6 acceptor site; normal PKP2 mRNA transcript isoform 2a lacking exon 6; and the mutant variant eliminating exon 7. (C) Agarose gel showing the mRNA (cDNA) detected. Noted both normal size, 503 bp, and the mutant, 325-bp, mRNA transcripts in the heterozygous father (FA) and mother (MO); and only normal-sized mRNA in the normal control (NL). (D) mRNA sequences. Normal PKP2a mRNA transcript with sequence of exon 5 joined by exon 7; mutant transcript lacking exon 7, thus, exon 5 connected to exon 8 sequence. Sequence of exon 6 was not present in PKP2a isoform.
fped-09-801491-g0002.jpg
PMC8764405_06_fped-09-801491-g0002.jpg
F2
PCR of the mRNA transcript of coding exons 4-8 yielded normal-sized and aberrant transcripts in the specimens of the parents, with notably less abundance of the mutant mRNA (Figures 2B,C). Sanger sequencing demonstrated the lack of exon 7 in the mutant transcript (Figure 2D).
PMC8764405_06
PKP2 variant, c.1511-1G>C. (A) Genomic DNA sequence. Noted nucleotide G/G in normal control, G/C in heterozygous father, and C/C in the patient. (B) Diagram showing the location of the variant at intron 6 acceptor site; normal PKP2 mRNA transcript isoform 2a lacking exon 6; and the mutant variant eliminating exon 7. (C) Agarose gel showing the mRNA (cDNA) detected. Noted both normal size, 503 bp, and the mutant, 325-bp, mRNA transcripts in the heterozygous father (FA) and mother (MO); and only normal-sized mRNA in the normal control (NL). (D) mRNA sequences. Normal PKP2a mRNA transcript with sequence of exon 5 joined by exon 7; mutant transcript lacking exon 7, thus, exon 5 connected to exon 8 sequence. Sequence of exon 6 was not present in PKP2a isoform.
fped-09-801491-g0002.jpg
PMC8764405_06_fped-09-801491-g0002.jpg
F2
PCR of the mRNA transcript of coding exons 4-8 yielded normal-sized and aberrant transcripts in the specimens of the parents, with notably less abundance of the mutant mRNA (Figures 2B,C). Sanger sequencing demonstrated the lack of exon 7 in the mutant transcript (Figure 2D).