cardiomyopathy, dilated, 2D

Cardiomyopathy, dilated, 2D is a severe heart muscle disorder that presents in the neonatal period with marked dilation of the heart and compromised function. It is caused by homozygous or compound heterozygous mutations in the RPL3L gene on chromosome 16p13 and is inherited in an autosomal recessive manner. Although precise prevalence figures are not available, this condition is considered very rare. Affected individuals typically develop severe cardiac decompensation early in life, often necessitating heart transplantation to sustain life.

The clinical presentation centers on cardiac abnormalities. Characteristic findings include interstitial cardiac fibrosis, reduced left ventricular ejection fraction, perinuclear cardiomyocyte vacuolization, and a dilated cardiomyopathy; these are consistently observed. In addition, some patients may experience tricuspid regurgitation, mitral regurgitation, pulmonary arterial hypertension, right atrial enlargement, muscular ventricular septal defect, patent foramen ovale, and even cardiogenic shock. Not all individuals experience every feature, and severity varies considerably.

This condition results from pathogenic variants in the RPL3L gene. The protein product of RPL3L is essential for cardiac muscle function, and mutations disrupt its normal role, leading to severe cardiomyopathy. It is inherited in an autosomal recessive pattern, meaning that both parents are typically carriers of a mutation even though they do not show symptoms themselves. Families are encouraged to seek genetic counseling to understand recurrence risks and discuss options for family planning.

Currently, management focuses on supportive care and symptom control, with treatment plans tailored to the individual by a multidisciplinary team. Due to the rapid progression of the cardiac dysfunction, many affected individuals ultimately require heart transplantation. Regular surveillance is an essential part of long-term care, helping to identify potential complications before they become serious. Genetic counseling is recommended, and patients should discuss treatment options with their healthcare team to determine the most appropriate management strategy for their situation.

The outlook for cardiomyopathy, dilated, 2D is highly variable. Without intervention, the condition leads to rapid cardiac decompensation; however, with current standards of care, including heart transplantation and ongoing multidisciplinary surveillance, outcomes have improved over time. The course may vary substantially among affected individuals, with some experiencing stabilization after intervention, while others continue to face significant challenges. Outcomes described in medical literature continue to evolve as standards of care improve, and families are encouraged to connect with cardiology specialists and genetic counselors for expert guidance.