Abstract
Background Patau syndrome is considered the third most common trisomy with an estimated prevalence of 1:20,000- 29,000. However, the prevalence in the UK is documented as 2 in every 10,000 births. The overall 5-year survival rate for a child with trisomy 13 is 9.7%. Central apnoea and multiorgan failure are the most common causes of early death in this cohort of patients where cardiac lesions do not commonly lead to premature deaths.
Common cardiac lesions found in patients with Trisomy 13 include ventricular septal defects (VSD), Tetralogy of Fallot (TOF), Patent Ductus Arteriosus (PDA), VSD + coarctation/arch hypoplasia, Atrial Septal Defect (ASD), coarctation of the aorta, single ventricle, complete atrioventricular septal defect, and Pulmonary atresia VSD. Very rarely, left ventricular noncompaction associated with progressive heart failure had been documented in 2 patients with trisomy 13 in the literature.
Case Presentation A baby girl was born at 40+2 weeks gestation by emergency C-section due to lack of progression. She had an uncomplicated birth. However, her genetic studies performed due to the antenatal suspicion, confirmed Trisomy 13 (47, XX,+13). Her echocardiogram at 5 months of age revealed a small stretched PFO with a dilated, thin-walled and noncompaction left ventricle associated with mild-moderate left ventricular systolic dysfunction. She had no post-tricuspid shunts and had normal coronary origins. Her left ventricular outflow tract and aortic arch were patent with otherwise normal intracardiac anatomy.
Her ECG revealed sinus rhythm without ventricular ectopics or repolarisation changes.
She was commenced on diuretic therapy.
Conclusion This case report demonstrates the rare association of left ventricular noncompaction cardiomyopathy in a patient with Patau syndrome which could be the life-limiting factor in patients with Trisomy 13. The case highlights the importance of detailed cardiac evaluation and follow-up in this cohort of patients
Apical four chamber view showing dilated left ventricle with evidence of noncompaction
Subcostal short axis view of LV showing thin LV muscle mass
Subcostal short axis view of LV showing thin LV musce mass
