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. 2022 Jan 6;8:798985. doi: 10.3389/fcvm.2021.798985

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Copyright © 2022 Yang, Shaybekyan, Zhao, Kang, Fishbein, Khanlou, Alejos, Halnon, Satou, Biniwale, Lee, Van Arsdell, Nelson, Touma, the UCLA Clinical Genomics Center and the UCLA Congenital Heart Defects-BioCore Faculty.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Clinical Presentation of the Proband. (A) Chest X ray on admission demonstrating severe cardiomegaly. (B) Three-generation family pedigree: III-1, Index case; II-1, father carries the c.355G>C (p.Val119Leu) variant; II-2, mother carries the c.997C>T (p.Arg333Trp) variant. III-2, older healthy sister that has not been tested; No other family history of heart disease besides [I-1], grandfather with coronary heart disease. (C) Graphs representing summary of serum brain-natriuretic peptide (BNP), cardiac Troponin T, and Lactate levels during the first 10 h after admission. (D) Representative echocardiogram, apical views on admission during systole (a) and diastole (b) demonstrating global left ventricular hypokinesis with estimated EF of 10–15%, significant concentric hypertrophy of the left ventricle, normal coronary arteries take offs, circumferential effusion without chamber compression measuring 14 mm posterior and 8 mm anterior, mild mitral regurgitation. *Please see accompanied Supplementary Videos included in Supplementary Materials.