[2] This congenital disease was first classified in 1985 by Dr. Joe Malouf, who performed a case study on two sisters that displayed this rare syndrome.
[3] The study consisted of two sisters that presented with hypergonadotropic hypogonadism, dilated cardiomyopathy, blepharoptosis, and a broad nasal base.
[4] Upon further analysis of their genetic lineage, it was found that the parents of the sisters were first-degree cousins; Malouf then classified the syndrome as a familial disorder.
The genetic basis of Malouf syndrome remains incompletely understood, contributing to challenges in diagnosis and management.
Signs and symptoms such as congestive or dilated cardiomyopathy, ovarian dysgenesis in females or primary testicular failure in males, intellectual disability, broad nasal base, blepharoptosis, skin lesions, and skeletal abnormalities are used as a reference to diagnosis this rare disease, and genetic testing of the LMNA gene can serve as a way to confirm a diagnosis.
Dr. Malouf examined two sisters who exhibited congestive cardiomyopathy associated with ovarian dysgenesis, secondary hypergonadotropic hypogonadism, bilateral ptosis, and prominent nasal bones.
[28] She was described as having delayed intellectual development, mild cardiomegaly, broad nasal base and several signs of Marfan syndrome such as small stature, arachnodactyly, and a large arm span.
With further testing, it was found that she had several electrocardiography (ECG) deviations which were concluded to be left-side dilated cardiomyopathy and congestive heart failure.
In addition to cardiomyopathy, many of her reproductive organs were also significantly impacted such as hypoplasia of her uterus, vagina, and fallopian tubes.
[citation needed] Despite all of this, providers are strongly encouraged to keep Malouf syndrome in mind with the differential diagnosis of dilated cardiomyopathy until further evidence is discovered which will lead to a more guided approach to diagnosing patients.
Therefore, a thorough clinical evaluation, including detailed medical history and, where possible, genetic testing, is crucial for an accurate diagnosis and appropriate management.
[citation needed] Due to the rare nature of the disease, it has been difficult to understand any underlying mechanisms that cause Malouf syndrome.
[36] As noted by Dr. Zhang et al., the treatment for standard heart failures in relation to LMNA cardiomyopathy uses "beta-blockers, angiotensin-converting enzyme inhibitors or angiotensin receptor blockers, and aldosterone antagonists, but the specific efficacy in this population is undetermined.
Sacubitril/Valsartan (Entresto)- This combination drug includes an ARB and ACE inhibitor to help pump blood from your heart to the rest of your body.
Some of the side effects of this medication include dizziness, low blood pressure, fatigue, and reduced exercise tolerance.
It is indicated for the treatment of stable angina pectoris and heart failure with reduced ejection fraction but has seen an increasing role in treating dilated cardiomyopathy due to its improvement of cardiac function.
Implantable cardioverter-defibrillators monitor the heartbeat and send electrical shocks to control any rapid or abnormal rhythms.
Due to the nature of the disease, and given the potential for progressive symptoms, ongoing monitoring and evaluation by specialists in cardiology, dermatology, and orthopedics are recommended.
As research advances, further understanding of the genetic underpinnings of this condition may lead to more precise diagnostic tools and targeted therapies.