Clinical and Parental Status of Patients with Congenital Heart Disease Associated Pulmonary Arterial Hypertension

Objective: The aim of this study was to characterize adults with congenital Heart Diseases (ADCHD) and pulmonary arterial hypertension (PAH) in a single center.

Methods: A prospective registry of all patients with PAH was conducted in a tertiary center ADCHD unit in Jerusalem, Israel, between 2009 and 2015. Patients with PAH and left ventricular end diastolic pressure < 15 mmHg were selected. Demographics, history, echocardiography, catheterization, functional and laboratory data were collected.

Results: Thirty two patients were found. The mean age at the last visit is 44 years, range 19-77 years. The prevalence PAH was 6% (95% confidence interval 4.3%-8.4%) of the whole ADCHD patients. A much higher prevalence (53%) of PAH was found in the Down’s syndrome patients. Non-Down’s syndrome patients with mental retardation were not found to be at higher risk for PAH. Most patients with PAH had moderate or severe disease. Fifteen patients (47%) were treated with pulmonary vasodilators, 6 patients (19%) with combination therapy. The average functional class was 2.6. Morbidity included CVA or TIA in 22%, most in patient with right to left shunt. Arrhythmia occurred in 37%. During a median follow up of 3.5 years, 5 patients (15.6%) died. Of 13 women with no mental retardation, 11 were or had been married, all of whom had children, from 1 to 13, average 3.3 children per woman.

Conclusions: Patients with congenital heart disease are at risk for PAH. These patients have significant morbidity and mortality. Down syndrome patients are at higher risk, but mental retardation alone is not a risk factor for PAH. While pulmonary pressure during the reproductive years is not always known, multiparous women with congenital heart disease may have significant PAH later in life.