Novel compound heterozygous variants in the PLD1 gene causing cardiac valve dysplasia 1 complicated with dilated cardiomyopathy: a case report
Two novel compound heterozygous variants in PLD1 may be the pathogenic genetic cause of cardiac valve dysplasia 1 (CVDD1) complicated with dilated cardiomyopathy (DCM) in this patient, which expands the variant spectrum of PLD1 and provides valuable evidence for genetic diagnosis and genetic counseling of CVDD1 and rel...