Congenital Heart Disease with Congenital Diaphragmatic Hernia: Surgical Decision Making and Outcomes.

OBJECTIVE: To describe the types of congenital heart disease (CHD) in a congenital diaphragmatic hernia (CDH) cohort in a large volume center and evaluate surgical decision making and outcomes based on complexity of CHD and associated conditions. STUDY DESIGN: A retrospective review of patients with CHD and CDH diagnosed by echocardiogram between 01/01/2005 and 07/31/2021. The cohort was divided into 2 groups based on survival at discharge. RESULTS: Clinically important CHD was diagnosed in 19% (62/326) of CDH patients. There was 90% (18/20) survival in children undergoing surgery for both CHD and CDH as neonates, and 87.5 (22/24) in those undergoing repair initially for CDH alone. A genetic anomaly identified on clinical testing was noted in 16% with no significant association with survival. A higher frequency of other organ system anomalies was noted in nonsurvivors compared with survivors. Nonsurvivors were more likely to have unrepaired CDH (69% vs 0%, P < .001) and unrepaired CHD (88% vs 54%, P < .05), reflecting a decision not to offer surgery. CONCLUSIONS: Survival was excellent in patients who underwent repair of both CHD and CDH. Patients with univentricular physiology have poor survival and this finding should be incorporated into pre and postnatal counseling about eligibility for surgery. In contrast, patients with other complex lesions including transposition of the great arteries have excellent outcomes and survival at 5 years follow-up at a large pediatric and cardiothoracic surgical center.

Extracorporeal Membrane Oxygenation (ECMO) and its complications in newborns with congenital diaphragmatic hernia.

BACKGROUND: Extracorporeal Membrane Oxygenation (ECMO) is offered to patients with congenital diaphragmatic hernia (CDH) who are in severe respiratory and cardiac failure. We aim to describe the types of complications among these patients and their impact on survival. METHODS: A single-center, retrospective review of CDH patients cannulated onto ECMO between January 2005 and November 2020 was conducted. ECMO complications, as categorized by the Extracorporeal Life Support Organization (ELSO), were correlated with survival status. Descriptive statistics were used to compare observed complications between survivors and non-survivors. RESULTS: In our cohort of CDH neonates, 21% (54/258) were supported with ECMO, of whom, 61% (33/54) survived. Survivors and non-survivors were similar in baseline characteristics except for birthweight z-score (p = 0.043). Seventy percent of CDH neonates experienced complications during their ECMO run, with the most common categories being metabolic (48.1%) and mechanical (38.9%), followed by hemorrhage (22.2%), neurological (18.5%), renal (11.1%), pulmonary (7.4%), and cardiovascular (7.4%). The median number of complications per patient was higher in the non-survivor group  (2 (IQR: 1-4) vs 1 (IQR: 0-2), p = 0.043). In addition, mechanical (57.1% vs 27.3%, p = 0.045) and renal (28.6% vs 0%, p = 0.002) complications were more common among non-survivors compared to survivors. CONCLUSION: Complications occur frequently among ECMO-treated newborns with CDH, some of which have serious long-term consequences. Survivors had higher birth weight z-scores, shorter ECMO runs, and fewer complications per patient. Mechanical and renal complications were independently associated with mortality, emphasizing the utility of more focused strategies to target fluid balance and renal protection and to prevent circuit and cannula complications.

The influence of genetics in congenital diaphragmatic hernia.

Congenital diaphragmatic hernia (CDH) is a common birth defect that is associated with significant morbidity and mortality, especially when associated with additional congenital anomalies. Both environmental and genetic factors are thought to contribute to CDH. The genetic contributions to CDH are highly heterogeneous and incompletely defined. No one genetic cause accounts for more than 1-2% of CDH cases. In this review, we summarize the known genetic causes of CDH from chromosomal anomalies to individual genes. Both de novo and inherited variants contribute to CDH. Genes causing CDH are increasingly identified from animal models and from genomic strategies including exome and genome sequencing in humans. CDH genes are often transcription factors, genes involved in cell migration or the components of extracellular matrix. We provide clinical genetic testing strategies in the clinical evaluation that can identify a genetic cause in up to ∼30% of patients with non-isolated CDH and can be useful to refine prognosis, identify associated medical and neurodevelopmental issues to address, and inform family planning options.