The Heart

 

Four inch (finished) hearts.

I suddenly felt like making myself a quilt of red, pink and white hearts.

 I've also been educating myself on genetic cardiac disorders. 

My granddaughter Kayla died unexpectedly on January 15. An autopsy has been performed and evidently her cause of death is still undetermined and still classified as SUD (Sudden Unexplained Death). Even though she tested negative for covid six days before her death and also her preliminary autopsy results for covid were negative I understand that the final autopsy results for covid were positive. However they have not ruled covid as the cause of death. Now the medical examiner has referred her samples on for  sponsored postmortem cardiac genetic testing to see if there was some genetic cardiac disorder that caused her death. Invitae is the lab that is doing the testing. 

I cannot believe there are so many cardiac genetic disorders that can go undetected in young folks. 

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If you are interested I've included some research I have come across below. 

Most sudden deaths are because of a cardiac etiology and are termed sudden cardiac death (SCD). In younger individuals coronary artery disease is less prevalent and cardiac genetic disorders are more common. If sudden death is unexplained despite an appropriate autopsy and toxicologic assessment the term sudden arrhythmic death syndrome (SADS) may be used. This is an umbrella term and common underlying etiologies are primary arrhythmia syndromes with a familial basis such as Brugada syndrome, long QT syndrome, and subtle forms of cardiomyopathy. The first clinical presentation of these conditions is often SCD, which makes identification, screening, and risk stratification crucial to avert further deaths. 

----From: The Role of Genetic Testing in Unexplained Sudden Death; NIH National Library of Medicine. https://pubmed.ncbi.nlm.nih.gov/26143861/

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From Invitae Test Catalog at: 

https://www.invitae.com/en/providers/test-catalog/test-02101

Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel

Test description

This test provides a comprehensive analysis of the genes associated with inherited arrhythmia and cardiomyopathy conditions.

Disorders Tested:

Alström syndrome
Andersen-Tawil syndrome
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Atrial fibrillation
Barth syndrome
Brugada syndrome (BrS)
Cantu syndrome
Carnitine palmitoyltransferase II (CPTII or CPT2) deficiency
Carvajal syndrome
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Combined oxidative phosphorylation deficiency (COXPD)
Congenital disorder of glycosylation DOLK-CDG (CDG-Im)
Danon disease
Dilated cardiomyopathy (DCM)
Dystrophinopathy
Dystrophy-dystroglycanopathy types A4, B4, C4, A5, B5 and C5
Emery-Dreifuss muscular dystrophy (EDMD)
Fabry disease
Glycogen storage disease type II (GSDII), also known as Pompe disease
Glycogen storage disease, type III (GSD III)
Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis)
Hypertrophic cardiomyopathy (HCM)
Inherited cardiomyopathies
Jervell and Lange-Nielsen syndrome (JLNS)
Left ventricular noncompaction (LVNC)
Limb-girdle muscular dystrophy type 2F
Long QT syndrome (LQTS)
Naxos disease
Noonan-spectrum disorders
Primary carnitine deficiency
Propionic acidemia
Restrictive cardiomyopathy (RCM)
SDHA-related mitochondrial complex II deficiency
Short QT syndrome (SQTS)
Timothy syndrome
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency
Wolff-Parkinson-White syndrome (WPW)