case_images: PMC11306180_01
case_images: Clinical features of patients with cardiomyopathy and PNPLA2 mutation. (A) Electrocardiogram of case 1 revealed poor R wave progression in precordial leads and Q wave progression in I, aVL lead, and PVC. (B,C) Cardiac magnetic resonance of case 1. Four-chamber view (B) and short axis view (C) reveal extensive subepicardial late gadolinium enhancement in the lateral wall, which extends to the epical segment (orange arrow), and mural thrombosis was observed (red arrow head). (D-F) Skeletal muscle biopsy obtained from case 1. (D) Hematoxylin-eosin (E-H) staining of skeletal muscle shows variation in myofiber size and cytoplasmic lipid vacuoles (yellow arrow head). (E) Lipid vacuoles in myocytes are stained by Oil Red O (yellow arrow head). (F) Transmission electron microscopy shows lipid droplets (yellow arrow head) located between the sarcomeric filaments and under the plasma membranes. (G) Electrocardiogram of case 1 revealed poor R wave progression in precordial leads, Q wave progression in I, aVL, and V5,6 leads, and low voltage in the limb lead. (H,I) Cardiac magnetic resonance of case 1. Four-chamber view (H) and short axis view (I) revealed transmural delayed gadolinium enhancement in the lateral wall (orange arrow).
case_images: fgene-15-1415156-g001.jpg
case_images: PMC11306180_02_fgene-15-1415156-g001.jpg
case_images: F1
case_images: Low voltage in the limb lead was also observed (Figure 1G). CMR-LGE showed transmural enhancement of the lateral wall (Figures 1H, I).
case_images: Genetic analysis: (A,B) genetic analysis of the probands and their family members. Probands are represented by black symbols. (C) Partial sequence of the PNPLA2 gene in our patients. The arrow marks the mutation site. (D) Schematic representation of the native and mutated ATGL protein.
case_images: fgene-15-1415156-g002.jpg
case_images: PMC11306180_02_fgene-15-1415156-g002.jpg
case_images: F2
case_images: Family analysis among the first-degree relatives revealed that the patient's parents, sister, and brother are all heterozygous carriers of this variant, and none of them exhibit a similar disease phenotype (Figure 2B).
case_images: PMC11306180_02
case_images: Clinical features of patients with cardiomyopathy and PNPLA2 mutation. (A) Electrocardiogram of case 1 revealed poor R wave progression in precordial leads and Q wave progression in I, aVL lead, and PVC. (B,C) Cardiac magnetic resonance of case 1. Four-chamber view (B) and short axis view (C) reveal extensive subepicardial late gadolinium enhancement in the lateral wall, which extends to the epical segment (orange arrow), and mural thrombosis was observed (red arrow head). (D-F) Skeletal muscle biopsy obtained from case 1. (D) Hematoxylin-eosin (E-H) staining of skeletal muscle shows variation in myofiber size and cytoplasmic lipid vacuoles (yellow arrow head). (E) Lipid vacuoles in myocytes are stained by Oil Red O (yellow arrow head). (F) Transmission electron microscopy shows lipid droplets (yellow arrow head) located between the sarcomeric filaments and under the plasma membranes. (G) Electrocardiogram of case 1 revealed poor R wave progression in precordial leads, Q wave progression in I, aVL, and V5,6 leads, and low voltage in the limb lead. (H,I) Cardiac magnetic resonance of case 1. Four-chamber view (H) and short axis view (I) revealed transmural delayed gadolinium enhancement in the lateral wall (orange arrow).
case_images: fgene-15-1415156-g001.jpg
case_images: PMC11306180_02_fgene-15-1415156-g001.jpg
case_images: F1
case_images: Low voltage in the limb lead was also observed (Figure 1G). CMR-LGE showed transmural enhancement of the lateral wall (Figures 1H, I).
case_images: Genetic analysis: (A,B) genetic analysis of the probands and their family members. Probands are represented by black symbols. (C) Partial sequence of the PNPLA2 gene in our patients. The arrow marks the mutation site. (D) Schematic representation of the native and mutated ATGL protein.
case_images: fgene-15-1415156-g002.jpg
case_images: PMC11306180_02_fgene-15-1415156-g002.jpg
case_images: F2
case_images: Family analysis among the first-degree relatives revealed that the patient's parents, sister, and brother are all heterozygous carriers of this variant, and none of them exhibit a similar disease phenotype (Figure 2B).