Del soplo inocente a la hipertensión arterial pulmonar / From an innocent heart murmur to pulmonary arterial hypertension

Resumen Introducción: La detección de cardiopatías congénitas en la etapa neonatal a partir de un soplo cardiaco o cianosis no es efectiva. Las cardiopatías congénitas críticas, como el tronco arterioso común (TAC), causan la mayoría de las muertes neonatales por malformaciones congénitas. El tamizaje por oximetría de pulso en los recién nacidos detecta hasta el 70% de estas cardiopatías. El TAC presenta una alta mortalidad en el primer año de vida. Caso clínico: Se presenta el caso de un paciente de sexo femenino de 4 años de edad con soplo cardiaco, palpitaciones, disnea y cianosis perioral, con diagnóstico al nacimiento de soplo inocente. Se detectó TAC mediante una ecocardiografía. Las resistencias vasculares pulmonares fueron evaluadas por medio de cateterismo cardiaco derecho, con hallazgo de hipertensión arterial pulmonar y vasorreactividad pulmonar. Se realizó corrección quirúrgica. A la fecha, la hipertensión arterial pulmonar continúa presente, por lo que se implementó Bosentan® (Actelion, USA) como tratamiento a largo plazo. Conclusiones: En recién nacidos, el tamizaje por oximetría de pulso después de las 24 horas de vida es un método efectivo para el diagnóstico oportuno de cardiopatías congénitas críticas antes de los signos de colapso cardiovascular. Por ello, resulta una herramienta diagnóstica fundamental para reducir la morbimortalidad. Aunque la corrección quirúrgica de cardiopatías congénitas con hipertensión arterial pulmonar es factible en algunos pacientes, su manejo subsecuente es complejo e impacta de manera adversa en la calidad de vida.

Abstract Background: The detection of congenital heart disease in newborns, based on a heart murmur or cyanosis is not effective. Critical congenital heart diseases, such as truncus arteriosus (TA), cause most of neonatal deaths due to congenital malformations. The screening for pulse oximetry in newborns detects up to 70% of these heart diseases. TA presents high mortality in the first year of life. Case report: A 4-year-old female patient with a heart murmur, palpitations, dyspnea, and perioral cyanosis was diagnosed with an innocent heart murmur at birth. TA was detected by echocardiography. Pulmonary vascular resistances were evaluated through right cardiac catheterization, and pulmonary arterial hypertension and pulmonary vasoreactivity were diagnosed as well. Surgical correction was performed. Currently, pulmonary arterial hypertension persists, for which Bosentan® (Actelion, USA) has been implemented as a long-term treatment. Conclusions: In newborns, the pulse oximetry screening after 24 hours of life is an effective method for suitable diagnosis of critical congenital heart disease before the signs of cardiovascular collapse. Therefore, it has become an essential diagnostic tool to reduce morbidity and mortality. Although the surgical correction of congenital heart disease with pulmonary arterial hypertension is feasible in some patients, its subsequent management is complex and has an adverse impact on the quality of life.

Heart murmur in the first week of life: Siriraj Hospital.

Congenital heart disease (CHD) is the most common form of cardiovascular diseases in children. In Thailand, there has not been available information about congenital heart disease in neonates. Between January 1st and December 31st, 2000, all full-term babies born at Siriraj Hospital with detected heart murmur within the first week of life were consulted to pediatric cardiologists. Echocardiography was performed for diagnosis in every baby. Total livebirths during that period were 11,245 cases. Heart murmurs were detected in 83 cases. The incidence of heart murmur within the first week of life was 7.38:1,000 livebirths. Innocent murmurs were found in 34 cases and echocardiogram revealed no detectable cardiac anomalies (2 cases), mild tricuspid regurgitation (2 cases), physiologic branch pulmonary stenosis (4 cases), and small size PDA (< 2 mm., 26 cases). Forty-nine cases had CHDs. The incidence of CHD was 4.36:1,000 livebirths. At the time of initial diagnosis, 22 cases (44.8%) were asymptomatic. Among these patients, 1 case had serious cardiac anomaly, i.e., tetralogy of Fallot. There were 27 cases with symptoms, including 15 cases (30.6%) with tachypnea, 8 cases (16.4%) with cyanosis and 4 cases (8.2%) with congestive heart failure. The 3 most common cardiac diseases were ventricular septal defect (9 cases, 18.4%), patent ductus arteriosus greater than 2 mm. (8 cases, 16.3%), and atrial septal defect (8 cases, 16.3%). Those with CHDs were treated with anticongestive medications (22 cases, 44.8%), prostaglandin E1 (5 cases, 10.2%), laser pulmonary vulvulotomy (1 case, 2%), palliative surgery within the first week of life (4 cases, 8.2%) and corrective surgery (4 cases, 8.2%). During follow-up for the period of 1 year, 2 cases died from sepsis. Early diagnosis and proper management are important to reduce morbidity and mortality in the newborn with CHD.